| Version |
2.5 |
| Creation Date |
2005-11-16 15:48:42 |
| Update Date |
2010-07-08 12:50:41 |
| Accession Number |
HMDB00121 |
| Secondary Accession Numbers |
Not Available |
| Common Name |
Folic acid |
| Description |
A member of the vitamin B family that stimulates the hematopoietic system. It is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses (poaceae). Folic acid, being biochemically inactive, is converted to tetrahydrofolic acid and methyltetrahydrofolate by dihydrofolate reductase. These folic acid congeners are transported across cells by receptor-mediated endocytosis where they are needed to maintain normal erythropoiesis, synthesize purine and thymidylate nucleic acids, interconvert amino acids, methylated tRNA, and generate and use formate. Folic acid is used in the treatment and prevention of folate deficiencies and megaloblastic anemia. |
| Synonyms |
- Acifolic
- Cytofol
- Dosfolat B activ
- Folacid
- Folacin
- Folate
- Folbal
- Folcidin
- Foldine
- Folettes
- Foliamin
- Folic acid
- Folicet
- Folipac
- Folsan
- Folsaure
- Folsav
- Folvite
- Incafolic
- Liver Lactobacillus casei factor
- Millafol
- Pteroyl-L-glutamate
- Pteroyl-L-glutamic acid
- Pteroyl-L-monoglutamate
- Pteroyl-L-monoglutamic acid
- Pteroylglutamate
- Pteroylglutamic acid
- Pteroylmonoglutamic acid
- Vitamin Bc
- Vitamin Be
- Vitamin M
- N-[4-[[(2-amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
- PGA
- N-pteroyl-L-glutamic acid
- PteGlu
- N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
- N-(4-{[(2-amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
|
| Chemical IUPAC Name |
2-[[4-[(2-amino-4-hydroxy-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid |
| Chemical Formula |
C19H19N7O6 |
| Chemical Structure |
 |
| Chemical Taxonomy |
| Kingdom |
|
| Super Class |
|
| Class |
|
| Sub Class |
|
| Family |
|
| Species |
- primary amine
- primary aromatic amine
- secondary amine
- secondary aliphatic/aromatic amine (alkylarylamine)
- carboxylic acid
- secondary carboxylic acid amide
- oxo(het)arene
- aromatic compound
- heterocyclic compound
|
| Biofunction |
- Essential vitamins
- DNA component
- Enzyme co-factor
- Component of Cyanoamino acid metabolism
- Component of Folate biosynthesis
- Component of Glycine, serine and threonine metabolism
- Component of Glyoxylate and dicarboxylate metabolism
- Component of Methane metabolism
- Component of Pyrimidine metabolism
|
| Application |
| — |
| Source |
|
|
| Average Molecular Weight |
441.397 |
| Monoisotopic Molecular Weight |
441.139679 |
| Isomeric SMILES |
NC1=NC(=O)C2=NC(CNC3=CC=C(C=C3)C(=O)N[C@@H](CCC(O)=O)C(O)=O)=CN=C2N1 |
| Canonical SMILES |
NC1=NC(=O)C2=NC(CNC3=CC=C(C=C3)C(=O)NC(CCC(O)=O)C(O)=O)=CN=C2N1 |
| KEGG Compound ID |
C00504  |
| BioCyc ID |
FOLATE  |
| BiGG ID |
35180  |
| Wikipedia Link |
Folic acid  |
| NuGOwiki Link |
HMDB00121  |
| Metagene Link |
HMDB00121  |
| METLIN ID |
246  |
| PubChem Compound |
6037  |
| PubChem Substance |
11112150  |
| ChEBI ID |
27470  |
| CAS Registry Number |
59-30-3 |
| InChI Identifier |
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s1 |
| Synthesis Reference |
Piper, James R.; McCaleb, George S.; Montgomery, John A. Synthesis of 10-propargylfolic acid from 2-amino-6-(bromomethyl)-4(1H)-pteridinone. Journal of Heterocyclic Chemistry (1987), 24(1), 279-82. |
| Melting Point (Experimental) |
250 oC |
| Experimental Water Solubility |
0.0016 mg/mL [MERCK INDEX (1983)]
Source: PhysProp
|
| Predicted Water Solubility |
0.0761 mg/mL [Predicted by ALOGPS]
Calculated using ALOGPS
|
| Physiological Charge |
-2 |
| State |
Solid |
| Experimental LogP/Hydrophobicity |
Not Available
Source: PhysProp
|
| Predicted LogP/Hydrophobicity |
-2.81 [MEYLAN,WM & HOWARD,PH (1995)]; -2.5 [Predicted by PubChem via XLOGP]; -0.04 [Predicted by ALOGPS]
Calculated using ALOGPS
|
| Material Safety Data Sheet (MSDS) |
|
| MOL File |
Show |
| SDF File |
Show |
| PDB File |
Show |
| 2D Structure |
|
| 3D Structure |
|
| Experimental PDB ID |
1CD2  |
| Experimental PDB File |
Show |
| Experimental PDB Structure |
|
| Experimental 1H NMR Spectrum |
Download Spectrum Download FID (Varian) Show Experimental Conditions  |
| Experimental 13C NMR Spectrum |
Not Available |
| Experimental 13C HSQC Spectrum |
Download Spectrum Download FID (Bruker) Show Experimental Conditions  |
| Predicted 1H NMR Spectrum |
Show Image Show Peaklist
|
| Predicted 13C NMR Spectrum |
Show Image Show Peaklist
|
| Mass Spectrum |
|
| Simplified TOCSY Spectrum |
Not Available |
| BMRB Spectrum |
Not Available |
| Cellular Location |
- Cytoplasm (Predicted from LogP)
- Extracellular
|
| Biofluid Location |
- Blood
- Cellular Cytoplasm
- Cerebrospinal Fluid
- Urine
|
| Tissue Location |
| Tissue |
References |
| Brain |
— |
| Erythrocyte |
— |
| Kidney |
— |
| Liver |
— |
|
| Concentrations (Normal) |
| Biofluid |
Blood |
| Value |
0.077 (0.071 - 0.083) uM |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Olthof MR, Bots ML, Katan MB, Verhoef P: Effect of folic Acid and betaine supplementation on flow-mediated dilation: a randomized, controlled study in healthy volunteers. PLoS Clin Trials. 2006 Jun;1(2):e10. Epub 2006 Jun 9. [PubMed
]
|
| Biofluid |
Blood |
| Value |
0.02 (0.011- 0.036) uM |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Wu AHB. Tietz clinical guide to laboratory tests. 4th ed. St. Louis: Saunders/Elsevier
- 2006.
|
| Biofluid |
Blood |
| Value |
0.039 (0.01 - 0.14) uM |
| Age |
Newborn:0-30 days old |
| Sex |
N/A |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Geigy Scientific Tables, 8th Rev edition, pp. 131. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp. Basel, Switzerland c1981-1992.
|
| Biofluid |
Blood |
| Value |
0.011 (0.004 - 0.028) uM |
| Age |
Children:1-13 yrs old |
| Sex |
N/A |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Geigy Scientific Tables, 8th Rev edition, pp. 131. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp. Basel, Switzerland c1981-1992.
|
| Biofluid |
Blood |
| Value |
0.009 (0.0024 - 0.024) uM |
| Age |
Adult:>18 yrs old |
| Sex |
N/A |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Geigy Scientific Tables, 8th Rev edition, pp. 131. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp. Basel, Switzerland c1981-1992.
|
| Biofluid |
Blood |
| Value |
0.009 (0.0026-0.026) uM |
| Age |
Adult:>18 yrs old |
| Sex |
Female |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Geigy Scientific Tables, 8th Rev edition, pp. 165-177. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp., Basel, Switzerland c1981-1992.
|
| Biofluid |
Blood |
| Value |
0.021 (0.017-0.025) uM |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Patient information |
Normal (plasma) |
| Comments |
Not Available |
| References |
- Chiang EP, Smith DE, Selhub J, Dallal G, Wang YC, Roubenoff R: Inflammation causes tissue-specific depletion of vitamin B6. Arthritis Res Ther. 2005;7(6):R1254-62. Epub 2005 Sep 13. [PubMed
]
|
| Biofluid |
Blood |
| Value |
0.720 (0.594-0.875) uM |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Patient information |
Normal (red blood cells) |
| Comments |
Not Available |
| References |
- Chiang EP, Smith DE, Selhub J, Dallal G, Wang YC, Roubenoff R: Inflammation causes tissue-specific depletion of vitamin B6. Arthritis Res Ther. 2005;7(6):R1254-62. Epub 2005 Sep 13. [PubMed
]
|
| Biofluid |
Cellular Cytoplasm |
| Value |
> 0.35 uM |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
|
| Biofluid |
Cellular Cytoplasm |
| Value |
0.735 +/- 0.202 uM |
| Age |
Newborn:0-30 days old |
| Sex |
N/A |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Geigy Scientific Tables, 8th Rev edition, pp. 131. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp. Basel, Switzerland c1981-1992.
|
| Biofluid |
Cellular Cytoplasm |
| Value |
0.453 +/- 0.131 uM |
| Age |
Adult:>18 yrs old |
| Sex |
N/A |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Geigy Scientific Tables, 8th Rev edition, pp. 131. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp. Basel, Switzerland c1981-1992.
|
| Biofluid |
CSF |
| Value |
0.0000000449 +/- 0.0000000132 uM |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Tallaksen CM, Bohmer T, Bell H: Concentrations of the water-soluble vitamins thiamin, ascorbic acid, and folic acid in serum and cerebrospinal fluid of healthy individuals. Am J Clin Nutr. 1992 Sep;56(3):559-64. [PubMed
]
|
| Biofluid |
CSF |
| Value |
0.0078 +/- 0.0011 uM |
| Age |
Adult:>18 yrs old |
| Sex |
N/A |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Selley ML, Close DR, Stern SE: The effect of increased concentrations of homocysteine on the concentration of (E)-4-hydroxy-2-nonenal in the plasma and cerebrospinal fluid of patients with Alzheimer's disease. Neurobiol Aging. 2002 May-Jun;23(3):383-8. [PubMed
]
|
| Biofluid |
CSF |
| Value |
0.053 +/- 0.024 uM |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Geigy Scientific Tables, 8th Rev edition, pp. 165-177. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp., Basel, Switzerland c1981-1992.
|
| Biofluid |
CSF |
| Value |
0.006 +/- 0.0005 uM |
| Age |
Elderly:>65 yrs old |
| Sex |
Both |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Selley ML, Close DR, Stern SE: The effect of increased concentrations of homocysteine on the concentration of (E)-4-hydroxy-2-nonenal in the plasma and cerebrospinal fluid of patients with Alzheimer's disease. Neurobiol Aging. 2002 May-Jun;23(3):383-8. [PubMed
]
|
| Biofluid |
Urine |
| Value |
< 0.01 umol/mmol creatinine |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Lin Y, Dueker SR, Follett JR, Fadel JG, Arjomand A, Schneider PD, Miller JW, Green R, Buchholz BA, Vogel JS, Phair RD, Clifford AJ: Quantitation of in vivo human folate metabolism. Am J Clin Nutr. 2004 Sep;80(3):680-91. [PubMed
]
|
| Biofluid |
Urine |
| Value |
0.00065 (0.000092-0.0013) umol/mmol creatinine |
| Age |
Adult:>18 yrs old |
| Sex |
Female |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Geigy Scientific Tables, 8th Rev edition, pp. 130. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp. Basel, Switzerland c1981-1992.
|
| Biofluid |
Urine |
| Value |
0.0014 (0.000013-0.0026) umol/mmol creatinine |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Geigy Scientific Tables, 8th Rev edition, pp. 130. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp. Basel, Switzerland c1981-1992.
|
|
| Concentrations (Abnormal) |
| Biofluid |
Blood |
| Value |
0.003 (0.0 - 0.007) uM |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Condition |
Folate deficiency |
| Comments |
Not Available |
| References |
- Wu AHB. Tietz clinical guide to laboratory tests. 4th ed. St. Louis: Saunders/Elsevier
- 2006.
|
| Biofluid |
Blood |
| Value |
0.023 (0.019-0.028) uM |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Condition |
Rheumatoid arthritis |
| Comments |
Patients with rheumatoid arthritis (plasma), n=33 |
| References |
- Chiang EP, Smith DE, Selhub J, Dallal G, Wang YC, Roubenoff R: Inflammation causes tissue-specific depletion of vitamin B6. Arthritis Res Ther. 2005;7(6):R1254-62. Epub 2005 Sep 13. [PubMed
]
|
| Biofluid |
Blood |
| Value |
0.684 (0.594-0.911) uM |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Condition |
Rheumatoid arthritis |
| Comments |
Patients with rheumatoid arthritis (red blood cells), n=33 |
| References |
- Chiang EP, Smith DE, Selhub J, Dallal G, Wang YC, Roubenoff R: Inflammation causes tissue-specific depletion of vitamin B6. Arthritis Res Ther. 2005;7(6):R1254-62. Epub 2005 Sep 13. [PubMed
]
|
| Biofluid |
CSF |
| Value |
0.0056 +/- 0.005 uM |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Condition |
Alzheimer's disease |
| Comments |
Not Available |
| References |
- Selley ML, Close DR, Stern SE: The effect of increased concentrations of homocysteine on the concentration of (E)-4-hydroxy-2-nonenal in the plasma and cerebrospinal fluid of patients with Alzheimer's disease. Neurobiol Aging. 2002 May-Jun;23(3):383-8. [PubMed
]
|
| Biofluid |
CSF |
| Value |
0.008 +/- 0.0011 uM |
| Age |
Elderly:>65 yrs old |
| Sex |
Both |
| Condition |
Alzheimer's disease |
| Comments |
Not Available |
| References |
- Selley ML, Close DR, Stern SE: The effect of increased concentrations of homocysteine on the concentration of (E)-4-hydroxy-2-nonenal in the plasma and cerebrospinal fluid of patients with Alzheimer's disease. Neurobiol Aging. 2002 May-Jun;23(3):383-8. [PubMed
]
|
|
| Associated Disorders |
| Condition |
References |
| Alzheimer's disease |
- Selley ML, Close DR, Stern SE: The effect of increased concentrations of homocysteine on the concentration of (E)-4-hydroxy-2-nonenal in the plasma and cerebrospinal fluid of patients with Alzheimer's disease. Neurobiol Aging. 2002 May-Jun;23(3):383-8. [PubMed
]
|
| Folate deficiency |
- Wu AHB. Tietz clinical guide to laboratory tests. 4th ed. St. Louis: Saunders/Elsevier
- 2006.
|
| Rheumatoid arthritis |
- Chiang EP, Smith DE, Selhub J, Dallal G, Wang YC, Roubenoff R: Inflammation causes tissue-specific depletion of vitamin B6. Arthritis Res Ther. 2005;7(6):R1254-62. Epub 2005 Sep 13. [PubMed
]
|
|
| OMIM ID |
|
| Pathways |
|
| General References |
- Kopczynska E, Ziolkowski M, Jendryczka-Mackiewicz E, Odrowaz-Sypniewska G, Opozda K, Tyrakowski T: [The concentrations of homocysteine, folic acid and vitamin B12 in alcohol dependent male patients] Psychiatr Pol. 2004 Sep-Oct;38(5):947-56. [PubMed
]
- Gregory JF 3rd, Williamson J, Liao JF, Bailey LB, Toth JP: Kinetic model of folate metabolism in nonpregnant women consuming [2H2]folic acid: isotopic labeling of urinary folate and the catabolite para-acetamidobenzoylglutamate indicates slow, intake-dependent, turnover of folate pools. J Nutr. 1998 Nov;128(11):1896-906. [PubMed
]
- Lin Y, Dueker SR, Follett JR, Fadel JG, Arjomand A, Schneider PD, Miller JW, Green R, Buchholz BA, Vogel JS, Phair RD, Clifford AJ: Quantitation of in vivo human folate metabolism. Am J Clin Nutr. 2004 Sep;80(3):680-91. [PubMed
]
- Rodriguez Flores J, Penalvo GC, Mansilla AE, Gomez MJ: Capillary electrophoretic determination of methotrexate, leucovorin and folic acid in human urine. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 May 5;819(1):141-7. [PubMed
]
- Selley ML, Close DR, Stern SE: The effect of increased concentrations of homocysteine on the concentration of (E)-4-hydroxy-2-nonenal in the plasma and cerebrospinal fluid of patients with Alzheimer's disease. Neurobiol Aging. 2002 May-Jun;23(3):383-8. [PubMed
]
- Litwin M, Abuauba M, Wawer ZT, Grenda R, Kuryl T, Pietraszek E: [Sulphur amino acids, vitamin B12 and folic acid in children with chronic renal failure] Pol Merkur Lekarski. 2000 Apr;8(46):268-9. [PubMed
]
- Gregory JF 3rd, Williamson J, Bailey LB, Toth JP: Urinary excretion of [2H4]folate by nonpregnant women following a single oral dose of [2H4]folic acid is a functional index of folate nutritional status. J Nutr. 1998 Nov;128(11):1907-12. [PubMed
]
- Dietrich M, Brown CJ, Block G: The effect of folate fortification of cereal-grain products on blood folate status, dietary folate intake, and dietary folate sources among adult non-supplement users in the United States. J Am Coll Nutr. 2005 Aug;24(4):266-74. [PubMed
]
- Pufulete M, Al-Ghnaniem R, Khushal A, Appleby P, Harris N, Gout S, Emery PW, Sanders TA: Effect of folic acid supplementation on genomic DNA methylation in patients with colorectal adenoma. Gut. 2005 May;54(5):648-53. [PubMed
]
- Clifford AJ, Arjomand A, Dueker SR, Schneider PD, Buchholz BA, Vogel JS: The dynamics of folic acid metabolism in an adult given a small tracer dose of 14C-folic acid. Adv Exp Med Biol. 1998;445:239-51. [PubMed
]
- Olthof MR, Bots ML, Katan MB, Verhoef P: Effect of folic Acid and betaine supplementation on flow-mediated dilation: a randomized, controlled study in healthy volunteers. PLoS Clin Trials. 2006 Jun;1(2):e10. Epub 2006 Jun 9. [PubMed
]
- Stern LL, Bagley PJ, Rosenberg IH, Selhub J: Conversion of 5-formyltetrahydrofolic acid to 5-methyltetrahydrofolic acid is unimpaired in folate-adequate persons homozygous for the C677T mutation in the methylenetetrahydrofolate reductase gene. J Nutr. 2000 Sep;130(9):2238-42. [PubMed
]
- Stuerenburg HJ, Ganzer S, Arlt S, Muller-Thomsen T: The influence of smoking on plasma folate and lipoproteins in Alzheimer disease, mild cognitive impairment and depression. Neuro Endocrinol Lett. 2005 Jun;26(3):261-3. [PubMed
]
- Cahill E, McPartlin J, Gibney MJ: The effects of fasting and refeeding healthy volunteers on serum folate levels. Int J Vitam Nutr Res. 1998;68(2):142-5. [PubMed
]
- Wikipedia

|
| Metabolic Enzymes |
- Glycine N-methyltransferase
- Formimidoyltransferase-cyclodeaminase
- Dihydrofolate reductase
- 5-formyltetrahydrofolate cyclo-ligase
- Folate receptor alpha precursor
- Folate transporter 1
- Thiamine transporter 1
- Folate receptor gamma precursor
- Dihydrofolate reductase (cDNA, FLJ93028, Homo sapiens dihydrofolate reductase (DHFR), mRNA)
- Folate receptor beta
- Mitochondrial folate transporter/carrier
- Folate transporter-like protein DKFZp547H025
- Probable folate receptor delta
|
|
Enzyme 1
[top]
|
| Enzyme 1 ID |
5640 |
| Enzyme 1 Name |
Glycine N-methyltransferase |
| Enzyme 1 Synonyms |
Not Available |
| Enzyme 1 Gene Name |
GNMT |
| Enzyme 1 Protein Sequence |
>Glycine N-methyltransferase
MVDSVYRTRSLGVAAEGLPDQYADGEAARVWQLYIGDTRSRTAEYKAWLLGLLRQHGCQR
VLDVACGTGVDSIMLVEEGFSVTSVDASDKMLKYALKERWNRRHEPAFDKWVIEEANWMT
LDKDVPQSAEGGFDAVICLGNSFAHLPDCKGDQSEHRLALKNIASMVRAGGLLVIDHRNY
DHILSTGCAPPGKNIYYKSDLTKDVTTSVLIVNNKAHMVTLDYTVQVPGAGQDGSPGLSK
FRLSYYPHCLASFTELLQAAFGGKCQHSVLGDFKPYKPGQTYIPCYFIHVLKRTD
|
| Enzyme 1 Number of Residues |
295 |
| Enzyme 1 Molecular Weight |
32743 |
| Enzyme 1 Theoretical pI |
7.03 |
| Enzyme 1 GO Classification |
Not Available |
| Enzyme 1 General Function |
Secondary metabolites biosynthesis, transport and catabolism |
| Enzyme 1 Specific Function |
Catalyzes the methylation of glycine by using S- adenosylmethionine (AdoMet) to form N-methylglycine (sarcosine) with the concomitant production of S-adenosylhomocysteine (AdoHcy). Possible crucial role in the regulation of tissue concentration of AdoMet and of metabolism of methionine |
| Enzyme 1 Pathways |
- Glycine, Serine and Threonine Metabolism (map00260
)
|
| Enzyme 1 Reactions |
- S-adenosyl-L-methionine + glycine = S-adenosyl-L-homocysteine + sarcosine
|
| Enzyme 1 Pfam Domain Function |
|
| Enzyme 1 Signals |
|
| Enzyme 1 Transmembrane Regions |
|
| Enzyme 1 Essentiality |
Not Available |
| Enzyme 1 GenBank ID Protein |
8671584  |
| Enzyme 1 UniProtKB/Swiss-Prot ID |
Q14749  |
| Enzyme 1 UniProtKB/Swiss-Prot Entry Name |
GNMT_HUMAN  |
| Enzyme 1 PDB ID |
1R74  |
| Enzyme 1 PDB File |
Show |
| Enzyme 1 3D Structure |
|
| Enzyme 1 Cellular Location |
Not Available |
| Enzyme 1 Gene Sequence |
>888 bp
ATGGTGGACAGCGTGTACCGGACCCGCTCCCTGGGGGTGGCGGCCGAAGGGCTCCCGGAC
CAGTACGCGGACGGGGAGGCGGCGCGCGTGTGGCAGCTGTATATCGGAGACACCCGCAGC
CGCACCGCCGAGTACAAGGCATGGCTGCTTGGGCTGCTGCGCCAGCACGGCTGCCAGCGG
GTGCTCGACGTAGCCTGTGGCACTGGGGTGGACTCCATTATGCTGGTGGAAGAGGGCTTC
AGTGTGACGAGTGTGGATGCCAGTGACAAGATGCTGAAGTATGCACTTAAGGAGCGCTGG
AACCGGCGGCACGAGCCCGCCTTCGACAAGTGGGTCATCGAAGAAGCCAACTGGATGACT
CTGGACAAAGATGTGCCCCAGTCAGCAGAGGGTGGCTTTGATGCTGTCATCTGCCTTGGA
AACAGTTTCGCTCACTTGCCAGACTGCAAAGGGGACCAGAGTGAGCACCGGCTGGCGCTG
AAAAACATTGCGAGCATGGTGCGGGCAGGGGGCCTACTGGTCATTGATCATCGCAACTAC
GACCACATCCTCAGTACAGGCTGTGCACCCCCAGGGAAGAACATCTACTATAAGAGTGAC
TTGACCAAGGACGTCACAACATCAGTGCTGATAGTGAACAACAAGGCCCACATGGTGACC
CTGGACTATACGGTGCAGGTGCCGGGGGCTGGCCAGGATGGCTCTCCTGGCTTGAGTAAG
TTCCGGCTCTCCTACTACCCACACTGTCTGGCATCCTTCACGGAGCTGCTCCAAGCAGCC
TTCGGAGGTAAGTGCCAGCACAGCGTCCTGGGCGACTTCAAGCCTTACAAGCCAGGCCAA
ACCTACATTCCCTGCTACTTCATCCACGTGCTCAAGAGGACAGACTGA
|
| Enzyme 1 GenBank Gene ID |
AF101477  |
| Enzyme 1 GeneCard ID |
GNMT  |
| Enzyme 1 GenAtlas ID |
GNMT  |
| Enzyme 1 HGNC ID |
HGNC:4415  |
| Enzyme 1 Chromosome Location |
Not Available |
| Enzyme 1 Locus |
Not Available |
| Enzyme 1 SNPs |
SNPJam Report  |
| Enzyme 1 General References |
- Chen YM, Shiu JY, Tzeng SJ, Shih LS, Chen YJ, Lui WY, Chen PH: Characterization of glycine-N-methyltransferase-gene expression in human hepatocellular carcinoma. Int J Cancer. 1998 Mar 2;75(5):787-93. [PubMed
]
- Chen YM, Chen LY, Wong FH, Lee CM, Chang TJ, Yang-Feng TL: Genomic structure, expression, and chromosomal localization of the human glycine N-methyltransferase gene. Genomics. 2000 May 15;66(1):43-7. [PubMed
]
- Luka Z, Cerone R, Phillips JA 3rd, Mudd HS, Wagner C: Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. Hum Genet. 2002 Jan;110(1):68-74. Epub 2001 Dec 7. [PubMed
]
|
| Enzyme 1 Metabolite References |
Not Available |
|
Enzyme 2
[top]
|
| Enzyme 2 ID |
5959 |
| Enzyme 2 Name |
Formimidoyltransferase-cyclodeaminase |
| Enzyme 2 Synonyms |
- Formiminotransferase- cyclodeaminase
- FTCD
- LCHC1[Includes: Glutamate formimidoyltransferase
- Glutamate formiminotransferase
- Glutamate formyltransferase
- Formimidoyltetrahydrofolate cyclodeaminase
- Formiminotetrahydrofolate cyclodeaminase]
|
| Enzyme 2 Gene Name |
FTCD |
| Enzyme 2 Protein Sequence |
>Formimidoyltransferase-cyclodeaminase
MSQLVECVPNFSEGKNQEVIDAISGAITQTPGCVLLDVDAGPSTNRTVYTFVGPPECVVE
GALNAARVASRLIDMSRHQGEHPRMGALDVCPFIPVRGVSVDECVLCAQAFGQRLAEELD
VPVYLYGEAARMDSRRTLPAIRAGEYEALPKKLQQADWAPDFGPSSFVPSWGATATGARK
FLIAFNINLLGTKEQAHRIALNLREQGRGKDQPGRLKKVQGIGWYLDEKNLAQVSTNLLD
FEVTALHTVYEETCREAQELSLPVVGSQLVGLVPLKALLDAAAFYCEKENLFILEEEQRI
RLVVSRLGLDSLCPFSPKERIIEYLVPERGPERGLGSKSLRAFVGEVGARSAAPGGGSVA
AAAAAMGAALGSMVGLMTYGRRQFQSLDTTMRRLIPPFREASAKLTTLVDADAEAFTAYL
EAMRLPKNTPEEKDRRTAALQEGLRRAVSVPLTLAETVASLWPALQELARCGNLACRSDL
QVAAKALEMGVFGAYFNVLINLRDITDEAFKDQIHHRVSSLLQEAKTQAALVLDCLETRQ
E
|
| Enzyme 2 Number of Residues |
541 |
| Enzyme 2 Molecular Weight |
58927 |
| Enzyme 2 Theoretical pI |
5.45 |
| Enzyme 2 GO Classification |
| Function |
- binding
- catalytic activity
- folic acid binding
- transferase activity
- vitamin binding
|
| Process |
- metabolism
- physiological process
|
| Component |
| — |
|
| Enzyme 2 General Function |
Amino acid transport and metabolism |
| Enzyme 2 Specific Function |
Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool |
| Enzyme 2 Pathways |
|
| Enzyme 2 Reactions |
- 5-formimidoyltetrahydrofolate = 5,10-methenyltetrahydrofolate + NH3
|
| Enzyme 2 Pfam Domain Function |
|
| Enzyme 2 Signals |
|
| Enzyme 2 Transmembrane Regions |
|
| Enzyme 2 Essentiality |
Not Available |
| Enzyme 2 GenBank ID Protein |
6537208  |
| Enzyme 2 UniProtKB/Swiss-Prot ID |
O95954  |
| Enzyme 2 UniProtKB/Swiss-Prot Entry Name |
FTCD_HUMAN  |
| Enzyme 2 PDB ID |
Not Available |
| Enzyme 2 Cellular Location |
Not Available |
| Enzyme 2 Gene Sequence |
>1626 bp
ATGTCCCAGCTGGTGGAATGCGTCCCCAACTTTTCGGAGGGGAAGAACCAGGAGGTGATC
GACGCCATCTCTGGAGCCATCACACAGACCCCGGGCTGCGTGCTGCTGGATGTGGACGCA
GGCCCTTCCACCAACCGCACCGTGTACACCTTCGTGGGGCCGCCGGAGTGCGTGGTGGAG
GGGGCCCTCAACGCTGCCCGGGTAGCTTCCCGACTTATCGACATGAGCAGGCACCAAGGA
GAGCACCCCCGCATGGGGGCCCTAGACGTCTGCCCCTTCATCCCCGTGAGGGGCGTCAGC
GTGGATGAGTGTGTGCTCTGCGCCCAGGCCTTTGGCCAGAGGCTGGCAGAGGAGCTGGAC
GTGCCAGTTTACCTGTACGGCGAGGCAGCCAGGATGGACAGTCGCCGGACCCTGCCGGCC
ATCCGGGCCGGGGAGTACGAGGCCCTCCCTAAGAAGCTCCAGCAGGCCGACTGGGCGCCC
GACTTTGGTCCCAGCTCCTTTGTCCCCAGTTGGGGGGCCACGGCCACGGGGGCGAGGAAG
TTCCTCATTGCTTTTAACATCAACCTGCTCGGCACAAAGGAGCAAGCCCACCGCATCGCG
CTCAACCTGCGGGAGCAGGGCCGCGGGAAGGACCAGCCAGGACGTCTGAAGAAAGTTCAG
GGCATTGGCTGGTACCTGGATGAGAAGAACCTGGCTCAGGTGTCCACCAATCTTCTGGAC
TTTGAGGTCACGGCACTGCACACGGTCTACGAGGAGACCTGCCGAGAAGCACAGGAGCTG
AGCCTCCCAGTGGTGGGCTCACAGCTGGTGGGCCTGGTGCCCCTGAAGGCTCTGCTGGAT
GCGGCCGCCTTCTACTGCGAGAAGGAGAACCTCTTCATCCTGGAGGAGGAGCAGCGGATC
AGGCTGGTGGTGAGCCGGCTGGGCCTGGACTCCCTGTGCCCCTTCAGCCCTAAGGAGCGG
ATCATCGAGTACCTGGTCCCTGAGCGCGGGCCTGAGCGAGGCCTGGGCAGCAAGTCCCTG
CGCGCCTTCGTGGGGGAGGTGGGTGCCCGCTCTGCGGCCCCCGGGGGCGGCTCGGTGGCG
GCGGCCGCTGCGGCCATGGGTGCGGCGCTGGGCTCCATGGTGGGCCTCATGACCTACGGG
CGGCGCCAATTCCAGTCCCTGGACACGACGATGCGGCGCCTGATCCCGCCCTTCCGCGAG
GCTTCGGCCAAGCTAACCACGCTGGTGGATGCCGACGCCGAGGCCTTCACCGCCTACCTG
GAAGCAATGAGGCTCCCCAAGAACACACCTGAGGAAAAGGACAGGCGCACGGCGGCCCTA
CAGGAGGGTCTGAGGCGGGCAGTCTCTGTGCCGCTGACGCTGGCGGAGACGGTGGCCTCG
CTGTGGCCGGCGCTGCAGGAACTGGCCCGGTGTGGGAACCTGGCCTGCCGGTCAGACCTC
CAGGTGGCGGCCAAAGCCCTGGAGATGGGCGTGTTTGGCGCATATTTCAACGTGCTCATC
AACCTGAGGGACATCACAGACGAGGCATTTAAGGACCAGATCCACCATCGTGTTTCCAGC
CTCCTGCAGGAAGCCAAGACCCAGGCTGCACTGGTGCTGGACTGCTTGGAGACCCGGCAG
GAGTGA
|
| Enzyme 2 GenBank Gene ID |
AF169017  |
| Enzyme 2 GeneCard ID |
FTCD  |
| Enzyme 2 GenAtlas ID |
FTCD  |
| Enzyme 2 HGNC ID |
HGNC:3974  |
| Enzyme 2 Chromosome Location |
Not Available |
| Enzyme 2 Locus |
Not Available |
| Enzyme 2 SNPs |
SNPJam Report  |
| Enzyme 2 General References |
- Solans A, Estivill X, de la Luna S: Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency. Cytogenet Cell Genet. 2000;88(1-2):43-9. [PubMed
]
- Lapierre P, Hajoui O, Homberg JC, Alvarez F: Formiminotransferase cyclodeaminase is an organ-specific autoantigen recognized by sera of patients with autoimmune hepatitis. Gastroenterology. 1999 Mar;116(3):643-9. [PubMed
]
- Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS: The molecular basis of glutamate formiminotransferase deficiency. Hum Mutat. 2003 Jul;22(1):67-73. [PubMed
]
|
| Enzyme 2 Metabolite References |
Not Available |
|
Enzyme 3
[top]
|
| Enzyme 3 ID |
6070 |
| Enzyme 3 Name |
Dihydrofolate reductase |
| Enzyme 3 Synonyms |
Not Available |
| Enzyme 3 Gene Name |
DHFR |
| Enzyme 3 Protein Sequence |
>Dihydrofolate reductase
MVGSLNCIVAVSQNMGIGKNGDLPWPPLRNEFRYFQRMTTTSSVEGKQNLVIMGKKTWFS
IPEKNRPLKGRINLVLSRELKEPPQGAHFLSRSLDDALKLTEQPELANKVDMVWIVGGSS
VYKEAMNHPGHLKLFVTRIMQDFESDTFFPEIDLEKYKLLPEYPGVLSDVQEEKGIKYKF
EVYEKND
|
| Enzyme 3 Number of Residues |
187 |
| Enzyme 3 Molecular Weight |
21453 |
| Enzyme 3 Theoretical pI |
7.60 |
| Enzyme 3 GO Classification |
| Function |
- NADP binding
- binding
- catalytic activity
- coenzyme binding
- cofactor binding
- dihydrofolate reductase activity
- oxidoreductase activity
- oxidoreductase activity, acting on the CH-NH group of donors
- oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor
|
| Process |
- amino acid and derivative metabolism
- amino acid metabolism
- cellular metabolism
- glycine biosynthesis
- glycine metabolism
- metabolism
- nucleobase, nucleoside, nucleotide and nucleic acid metabolism
- nucleotide biosynthesis
- nucleotide metabolism
- physiological process
- serine family amino acid metabolism
|
| Component |
| — |
|
| Enzyme 3 General Function |
Coenzyme transport and metabolism |
| Enzyme 3 Specific Function |
5,6,7,8-tetrahydrofolate + NADP(+) = 7,8- dihydrofolate + NADPH |
| Enzyme 3 Pathways |
- Folate and Pterine Biosynthesis (map00790
)
- One Carbon Pool By Folate (map00670
)
|
| Enzyme 3 Reactions |
- 5,6,7,8-tetrahydrofolate + NADP+ = 7,8-dihydrofolate + NADPH + H+
|
| Enzyme 3 Pfam Domain Function |
|
| Enzyme 3 Signals |
|
| Enzyme 3 Transmembrane Regions |
|
| Enzyme 3 Essentiality |
Not Available |
| Enzyme 3 GenBank ID Protein |
182724  |
| Enzyme 3 UniProtKB/Swiss-Prot ID |
P00374  |
| Enzyme 3 UniProtKB/Swiss-Prot Entry Name |
DYR_HUMAN  |
| Enzyme 3 PDB ID |
1MVT  |
| Enzyme 3 PDB File |
Show |
| Enzyme 3 3D Structure |
|
| Enzyme 3 Cellular Location |
Not Available |
| Enzyme 3 Gene Sequence |
>564 bp
ATGGTTGGTTCGCTAAACTGCATCGTCGCTGTGTCCCAGAACATGGGCATCGGCAAGAAC
GGGGACCTGCCCTGGCCACCGCTCAGGAATGAATTCAGATATTTCCAGAGAATGACCACA
ACCTCTTCAGTAGAAGGTAAACAGAATCTGGTGATTATGGGTAAGAAGACCTGGTTCTCC
ATTCCTGAGAAGAATCGACCTTTAAAGGGTAGAATTAATTTAGTTCTCAGCAGAGAACTC
AAGGAACCTCCACAAGGAGCTCATTTTCTTTCCAGAAGTCTAGATGATGCCTTAAAACTT
ACTGAACAACCAGAATTAGCAAATAAAGTAGACATGGTCTGGATAGTTGGTGGCAGTTCT
GTTTATAAGGAAGCCATGAATCACCCAGGCCATCTTAAACTATTTGTGACAAGGATCATG
CAAGACTTTGAAAGTGACACGTTTTTTCCAGAAATTGATTTGGAGAAATATAAACTTCTG
CCAGAATACCCAGGTGTTCTCTCTGATGTCCAGGAGGAGAAAGGCATTAAGTACAAATTT
GAAGTATATGAGAAGAATGATTAA
|
| Enzyme 3 GenBank Gene ID |
J00140  |
| Enzyme 3 GeneCard ID |
DHFR  |
| Enzyme 3 GenAtlas ID |
DHFR  |
| Enzyme 3 HGNC ID |
HGNC:2861  |
| Enzyme 3 Chromosome Location |
5 |
| Enzyme 3 Locus |
5q11.2-q13.2 |
| Enzyme 3 SNPs |
SNPJam Report  |
| Enzyme 3 General References |
- Chen MJ, Shimada T, Moulton AD, Cline A, Humphries RK, Maizel J, Nienhuis AW: The functional human dihydrofolate reductase gene. J Biol Chem. 1984 Mar 25;259(6):3933-43. [PubMed
]
- Masters JN, Attardi G: The nucleotide sequence of the cDNA coding for the human dihydrofolic acid reductase. Gene. 1983 Jan-Feb;21(1-2):59-63. [PubMed
]
- Yang JK, Masters JN, Attardi G: Human dihydrofolate reductase gene organization. Extensive conservation of the G + C-rich 5' non-coding sequence and strong intron size divergence from homologous mammalian genes. J Mol Biol. 1984 Jun 25;176(2):169-87. [PubMed
]
- Oefner C, D'Arcy A, Winkler FK: Crystal structure of human dihydrofolate reductase complexed with folate. Eur J Biochem. 1988 Jun 1;174(2):377-85. [PubMed
]
- Davies JF 2nd, Delcamp TJ, Prendergast NJ, Ashford VA, Freisheim JH, Kraut J: Crystal structures of recombinant human dihydrofolate reductase complexed with folate and 5-deazafolate. Biochemistry. 1990 Oct 9;29(40):9467-79. [PubMed
]
- Cody V, Galitsky N, Luft JR, Pangborn W, Rosowsky A, Blakley RL: Comparison of two independent crystal structures of human dihydrofolate reductase ternary complexes reduced with nicotinamide adenine dinucleotide phosphate and the very tight-binding inhibitor PT523. Biochemistry. 1997 Nov 11;36(45):13897-903. [PubMed
]
- Stockman BJ, Nirmala NR, Wagner G, Delcamp TJ, DeYarman MT, Freisheim JH: Sequence-specific 1H and 15N resonance assignments for human dihydrofolate reductase in solution. Biochemistry. 1992 Jan 14;31(1):218-29. [PubMed
]
|
| Enzyme 3 Metabolite References |
Not Available |
|
Enzyme 4
[top]
|
| Enzyme 4 ID |
6704 |
| Enzyme 4 Name |
5-formyltetrahydrofolate cyclo-ligase |
| Enzyme 4 Synonyms |
- 5,10-methenyl- tetrahydrofolate synthetase
- Methenyl-THF synthetase
- MTHFS
|
| Enzyme 4 Gene Name |
MTHFS |
| Enzyme 4 Protein Sequence |
>5-formyltetrahydrofolate cyclo-ligase
MAAAAVSSAKRSLRGELKQRLRAMSAEERLRQSRVLSQKVIAHSEYQKSKRISIFLSMQD
EIETEEIIKDIFQRGKICFIPRYRFQSNHMDMVRIESPEEISLLPKTSWNIPQPGEGDVR
EEALSTGGLDLIFMPGLGFDKHGNRLGRGKGYYDAYLKRCLQHQEVKPYTLALAFKEQIC
LQVPVNENDMKVDEVLYEDSSTA
|
| Enzyme 4 Number of Residues |
203 |
| Enzyme 4 Molecular Weight |
23256 |
| Enzyme 4 Theoretical pI |
8.06 |
| Enzyme 4 GO Classification |
| Function |
|
| Process |
- metabolism
- physiological process
|
| Component |
| — |
|
| Enzyme 4 General Function |
Coenzyme transport and metabolism |
| Enzyme 4 Specific Function |
ATP + 5-formyltetrahydrofolate = ADP + phosphate + 5,10-methenyltetrahydrofolate |
| Enzyme 4 Pathways |
|
| Enzyme 4 Reactions |
- ATP + 5-formyltetrahydrofolate = ADP + phosphate + 5,10-methenyltetrahydrofolate
|
| Enzyme 4 Pfam Domain Function |
|
| Enzyme 4 Signals |
|
| Enzyme 4 Transmembrane Regions |
|
| Enzyme 4 Essentiality |
Not Available |
| Enzyme 4 GenBank ID Protein |
886297  |
| Enzyme 4 UniProtKB/Swiss-Prot ID |
P49914  |
| Enzyme 4 UniProtKB/Swiss-Prot Entry Name |
MTHFS_HUMAN  |
| Enzyme 4 PDB ID |
Not Available |
| Enzyme 4 Cellular Location |
Not Available |
| Enzyme 4 Gene Sequence |
>612 bp
ATGGCGGCGGCAGCGGTGAGCAGCGCCAAGCGGAGCCTGCGGGGAGAGCTGAAGCAGCGT
CTGCGGGCGATGAGTGCCGAGGAGCGGCTACGCCAGTCCCGCGTACTGAGCCAGAAGGTG
ATTGCCCACAGTGAGTATCAAAAGTCCAAAAGAATTTCCATCTTTCTGAGCATGCAAGAT
GAAATTGAGACAGAAGAGATCATCAAGGACATTTTCCAACGAGGCAAAATCTGCTTCATC
CCTCGGTACCGGTTCCAGAGCAATCACATGGATATGGTGAGAATAGAATCACCAGAGGAA
ATTTCTTTACTTCCCAAAACATCCTGGAATATCCCTCAGCCTGGTGAGGGTGATGTTCGG
GAGGAGGCCTTGTCCACAGGGGGACTTGATCTCATCTTCATGCCAGGCCTTGGGTTTGAC
AAACATGGCAACCGACTGGGGAGGGGCAAGGGCTACTATGATGCCTATCTGAAGCGCTGT
TTGCAGCATCAGGAAGTGAAGCCCTACACCCTGGCGTTGGCTTTCAAAGAACAGATTTGC
CTCCAGGTCCCAGTGAATGAAAACGACATGAAGGTAGATGAAGTCCTTTACGAAGACTCG
TCAACAGCTTAA
|
| Enzyme 4 GenBank Gene ID |
L38928  |
| Enzyme 4 GeneCard ID |
MTHFS  |
| Enzyme 4 GenAtlas ID |
MTHFS  |
| Enzyme 4 HGNC ID |
HGNC:7437  |
| Enzyme 4 Chromosome Location |
15 |
| Enzyme 4 Locus |
15q25.1 |
| Enzyme 4 SNPs |
SNPJam Report  |
| Enzyme 4 General References |
- Dayan A, Bertrand R, Beauchemin M, Chahla D, Mamo A, Filion M, Skup D, Massie B, Jolivet J: Cloning and characterization of the human 5,10-methenyltetrahydrofolate synthetase-encoding cDNA. Gene. 1995 Nov 20;165(2):307-11. [PubMed
]
- Bertrand R, MacKenzie RE, Jolivet J: Human liver methenyltetrahydrofolate synthetase: improved purification and increased affinity for folate polyglutamate substrates. Biochim Biophys Acta. 1987 Jan 30;911(2):154-61. [PubMed
]
|
| Enzyme 4 Metabolite References |
Not Available |
|
Enzyme 5
[top]
|
| Enzyme 5 ID |
7811 |
| Enzyme 5 Name |
Folate receptor alpha precursor |
| Enzyme 5 Synonyms |
- FR-alpha
- Folate receptor 1
- Folate receptor, adult
- Adult folate-binding protein
- FBP
- Ovarian tumor- associated antigen MOv18
- KB cells FBP
|
| Enzyme 5 Gene Name |
FOLR1 |
| Enzyme 5 Protein Sequence |
>Folate receptor alpha precursor
MAQRMTTQLLLLLVWVAVVGEAQTRIAWARTELLNVCMNAKHHKEKPGPEDKLHEQCRPW
RKNACCSTNTSQEAHKDVSYLYRFNWNHCGEMAPACKRHFIQDTCLYECSPNLGPWIQQV
DQSWRKERVLNVPLCKEDCEQWWEDCRTSYTCKSNWHKGWNWTSGFNKCAVGAACQPFHF
YFPTPTVLCNEIWTHSYKVSNYSRGSGRCIQMWFDPAQGNPNEEVARFYAAAMSGAGPWA
AWPFLLSLALMLLWLLS
|
| Enzyme 5 Number of Residues |
257 |
| Enzyme 5 Molecular Weight |
29819 |
| Enzyme 5 Theoretical pI |
8.02 |
| Enzyme 5 GO Classification |
Not Available |
| Enzyme 5 General Function |
Not Available |
| Enzyme 5 Specific Function |
Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells |
| Enzyme 5 Pathways |
Not Available |
| Enzyme 5 Reactions |
Not Available |
| Enzyme 5 Pfam Domain Function |
|
| Enzyme 5 Signals |
|
| Enzyme 5 Transmembrane Regions |
|
| Enzyme 5 Essentiality |
Not Available |
| Enzyme 5 GenBank ID Protein |
182416  |
| Enzyme 5 UniProtKB/Swiss-Prot ID |
P15328  |
| Enzyme 5 UniProtKB/Swiss-Prot Entry Name |
FOLR1_HUMAN  |
| Enzyme 5 PDB ID |
Not Available |
| Enzyme 5 Cellular Location |
Not Available |
| Enzyme 5 Gene Sequence |
>774 bp
ATGGCTCAGCGGATGACAACACAGCTGCTGCTCCTTCTAGTGTGGGTGGCTGTAGTAGGG
GAGGCTCAGACAAGGATTGCATGGGCCAGGACTGAGCTTCTCAATGTCTGCATGAACGCC
AAGCACCACAAGGAAAAGCCAGGCCCCGAGGACAAGTTGCATGAGCAGTGTCGACCCTGG
AGGAAGAATGCCTGCTGTTCTACCAACACCAGCCAGGAAGCCCATAAGGATGTTTCCTAC
CTATATAGATTCAACTGGAACCACTGTGGAGAGATGGCACCTGCCTGCAAACGGCATTTC
ATCCAGGACACCTGCCTCTACGAGTGCTCCCCCAACTTGGGGCCCTGGATCCAGCAGGTG
GATCAGAGCTGGCGCAAAGAGCGGGTACTGAACGTGCCCCTGTGCAAAGAGGACTGTGAG
CAATGGTGGGAAGATTGTCGCACCTCCTACACCTGCAAGAGCAACTGGCACAAGGGCTGG
AACTGGACTTCAGGGTTTAACAAGTGCGCAGTGGGAGCTGCCTGCCAACCTTTCCATTTC
TACTTCCCCACACCCACTGTTCTGTGCAATGAAATCTGGACTCACTCCTACAAGGTCAGC
AACTACAGCCGAGGGAGTGGCCGCTGCATCCAGATGTGGTTCGACCCAGCCCAGGGCAAC
CCCAATGAGGAGGTGGCGAGGTTCTATGCTGCAGCCATGAGTGGGGCTGGGCCCTGGGCA
GCCTGGCCTTTCCTGCTTAGCCTGGCCCTAATGCTGCTGTGGCTGCTCAGCTGA
|
| Enzyme 5 GenBank Gene ID |
M28099  |
| Enzyme 5 GeneCard ID |
FOLR1  |
| Enzyme 5 GenAtlas ID |
FOLR1  |
| Enzyme 5 HGNC ID |
HGNC:3791  |
| Enzyme 5 Chromosome Location |
11 |
| Enzyme 5 Locus |
11q13.3-q14.1 |
| Enzyme 5 SNPs |
SNPJam Report  |
| Enzyme 5 General References |
- Lacey SW, Sanders JM, Rothberg KG, Anderson RG, Kamen BA: Complementary DNA for the folate binding protein correctly predicts anchoring to the membrane by glycosyl-phosphatidylinositol. J Clin Invest. 1989 Aug;84(2):715-20. [PubMed
]
- Elwood PC: Molecular cloning and characterization of the human folate-binding protein cDNA from placenta and malignant tissue culture (KB) cells. J Biol Chem. 1989 Sep 5;264(25):14893-901. [PubMed
]
- Campbell IG, Jones TA, Foulkes WD, Trowsdale J: Folate-binding protein is a marker for ovarian cancer. Cancer Res. 1991 Oct 1;51(19):5329-38. [PubMed
]
- Coney LR, Tomassetti A, Carayannopoulos L, Frasca V, Kamen BA, Colnaghi MI, Zurawski VR Jr: Cloning of a tumor-associated antigen: MOv18 and MOv19 antibodies recognize a folate-binding protein. Cancer Res. 1991 Nov 15;51(22):6125-32. [PubMed
]
- Sadasivan E, Cedeno M, Rothenberg SP: Genomic organization of the gene and a related pseudogene for a human folate binding protein. Biochim Biophys Acta. 1992 May 7;1131(1):91-4. [PubMed
]
- Sadasivan E, Rothenberg SP: The complete amino acid sequence of a human folate binding protein from KB cells determined from the cDNA. J Biol Chem. 1989 Apr 5;264(10):5806-11. [PubMed
]
- Luhrs CA, Pitiranggon P, da Costa M, Rothenberg SP, Slomiany BL, Brink L, Tous GI, Stein S: Purified membrane and soluble folate binding proteins from cultured KB cells have similar amino acid compositions and molecular weights but differ in fatty acid acylation. Proc Natl Acad Sci U S A. 1987 Sep;84(18):6546-9. [PubMed
]
- Yan W, Ratnam M: Preferred sites of glycosylphosphatidylinositol modification in folate receptors and constraints in the primary structure of the hydrophobic portion of the signal. Biochemistry. 1995 Nov 7;34(44):14594-600. [PubMed
]
|
| Enzyme 5 Metabolite References |
Not Available |
|
Enzyme 6
[top]
|
| Enzyme 6 ID |
7978 |
| Enzyme 6 Name |
Folate transporter 1 |
| Enzyme 6 Synonyms |
- Solute carrier family 19 member 1
- Placental folate transporter
- FOLT
- Reduced folate carrier protein
- RFC
- Intestinal folate carrier
- IFC-1
|
| Enzyme 6 Gene Name |
SLC19A1 |
| Enzyme 6 Protein Sequence |
>Folate transporter 1
MVPSSPAVEKQVPVEPGPDPELRSWRHLVCYLCFYGFMAQIRPGESFITPYLLGPDKNFT
REQVTNEITPVLSYSYLAVLVPVFLLTDYLRYTPVLLLQGLSFVSVWLLLLLGHSVAHMQ
LMELFYSVTMAARIAYSSYIFSLVRPARYQRVAGYSRAAVLLGVFTSSVLGQLLVTVGRV
SFSTLNYISLAFLTFSVVLALFLKRPKRSLFFNRDDRGRCETSASELERMNPGPGGKLGH
ALRVACGDSVLARMLRELGDSLRRPQLRLWSLWWVFNSAGYYLVVYYVHILWNEVDPTTN
SARVYNGAADAASTLLGAITSFAAGFVKIRWARWSKLLIAGVTATQAGLVFLLAHTRHPS
SIWLCYAAFVLFRGSYQFLVPIATFQIASSLSKELCALVFGVNTFFATIVKTIITFIVSD
VRGLGLPVRKQFQLYSVYFLILSIIYFLGAMLDGLRHCQRGHHPRQPPAQGLRSAAEEKA
AQALSVQDKGLGGLQPAQSPPLSPEDSLGAVGPASLEQRQSDPYLAQAPAPQAAEFLSPV
TTPSPCTLCSAQASGPEAADETCPQLAVHPPGVSKLGLQCLPSDGVQNVNQ
|
| Enzyme 6 Number of Residues |
591 |
| Enzyme 6 Molecular Weight |
64869 |
| Enzyme 6 Theoretical pI |
9.10 |
| Enzyme 6 GO Classification |
| Function |
- binding
- carrier activity
- electrochemical potential-driven transporter activity
- folic acid binding
- porter activity
- reduced folate carrier activity
- transporter activity
- vitamin binding
|
| Process |
- cellular physiological process
- physiological process
- transport
|
| Component |
|
|
| Enzyme 6 General Function |
Not Available |
| Enzyme 6 Specific Function |
Transporter for the intake of folate. Uptake of folate in human placental choriocarcinoma cells occurs by a novel mechanism called potocytosis which functionally couples three components, namely the folate receptor, the folate transporter, and a V-type H(+)-pump |
| Enzyme 6 Pathways |
Not Available |
| Enzyme 6 Reactions |
Not Available |
| Enzyme 6 Pfam Domain Function |
|
| Enzyme 6 Signals |
|
| Enzyme 6 Transmembrane Regions |
- 24-44
71-89
96-116
124-144
160-177
187-203
260-287
310-327
334-354
361-378
395-419
434-454
|
| Enzyme 6 Essentiality |
Not Available |
| Enzyme 6 GenBank ID Protein |
1222523  |
| Enzyme 6 UniProtKB/Swiss-Prot ID |
P41440  |
| Enzyme 6 UniProtKB/Swiss-Prot Entry Name |
S19A1_HUMAN  |
| Enzyme 6 PDB ID |
Not Available |
| Enzyme 6 Cellular Location |
Not Available |
| Enzyme 6 Gene Sequence |
>1776 bp
ATGGTGCCCTCCAGCCCAGCGGTGGAGAAGCAGGTGCCCGTGGAACCTGGGCCTGACCCC
GAGCTCCGGTCCTGGCGGCGCCTCGTGTGCTACCTTTGCTTCTACGGCTTCATGGCGCAG
ATACGGCCAGGGGAGAGCTTCATCACCCCCTACCTCCTGGGGCCCGACAAGAACTTCACG
CGGGACGAGGTCACGAACGAGATCACGCCGGTGCTGTCGTACTCCTACCTGGCCGTGCTG
GTGCCCGTGTTCCTGCTCACCGACTACCTGCGCTACACGCCGGTGCTGCTGCTGCAGGGG
CTCAGCTTCGTGTCGGTGTGGCTGCTGCTGCTGCTGGGCCACTCGGTGGCGCACATGCAG
CTCATGGAGCTCTTCTACAGCGTCACCATGGCCGCGCGCATCGCCTATTCCTCCTACATC
TTCTCTCTCGTGCGGCCCGCGCGCTACCAGCGTGTGGCCGGCTACTCGCGCGCTGCGGTG
CTGCTGGGCGTGTTCACCAGCTCCGTGCTGGGCCAGCTGCTGGTCACTGTGGGCCGAGTC
TCCTTCTCCACGCTCAACTACATCTCGCTGGCCTTCCTCACCTTCAGCGTGGTCCTCGCC
CTCTTCCTGAAGCGCCCCAAGCGCAGCCTCTTCTTCAACCGCGACGACCGGGGGCGGTGC
GAAACCTCGGCTTCGGAGCTGGAGCGCATGAATCCCGGCCCAGGCGGGAAGCTGGGACAC
GCCCTGCGGGTGGCCTGTGGGGACTCAGTGCTGGCGCGGATGCTGCGGGAGCTGGGGGAC
AGCCTGCGGCGGCCGCAGCTGCCCCTGTGGTCCCTCTGGTGGGTCTTCAACTCGGCCGGC
TACTACCTGGTGGTCTACTACGTGCACATCCTGTGGAACGAGGTGGACCCCACCACCAAC
AGTGCGCGGGTCTACAACGGCGCGGCAGATGCTGCCTCCACGCTGCTGGGCGCCATCACG
TCCTTCGCCGCGGGCTTCGTGAAGATCCGCTGGGCGCGCTGGTCCAAGCTGCTCATCGCG
GGCGTCACGGCCACGCAGGCGGGGCTGGTCTTCCTTCTGGCGCACACGCGCCACCCGAGC
AGCATCTGGCTGTGCTATGCGGCCTTCGTGCTGTTCCGCGGCTCCTACCAGTTCCTCGTG
CCCATCGCCACCTTTCAGATTGCATCTTCTCTGTCTAAAGAGCTCTGTGCCCTGGTCTTC
GGGGTCAACACGTTCTTTGCCACCATCGTCAAGACCATCATCACTTTCATTGTCTCGGAC
GTGCGGGGCCTGGGCCTCCCGGTCCGCAAGCAGTTCCAGTTATACTCCGTGTACTTCCTG
ATCCTGTCCATCATCTACTTCTTGGGGGCCATGCTGGATGGCCTGCGGCACTGCCAGCGG
GGCCACCACCCGCGGCAGCCCCCGGCCCAGGGCCTGAGGAGTGCCGCGGAGGAGAAGGCA
GCACAGGCACTGAGCGTGCAGGACAAGGGCCTCGGAGGCCTGCAGCCAGCCCAGAGCCCG
CCGCTTTCCCCAGAAGACAGCCTGGGGGCTGTGGGGCCAGCCTCCCTGGAGCAGAGACAG
AGCGACCCATACCTGGCCCAGGCCCCGGCCCCGCAGGCAGCTGAATTCCTGAGCCCAGTG
ACAACCCCTTCCCCCTGCACTCTGTCGTCCGCCCAAGCCTCAGGCCCTGAGGCTGCAGAT
GAGACTTGTCCCCAGCTGGCTGTCCATCCTCCTGGTGTCAGCAAGCTGGGTTTGCAGTGT
CTTCCAAGCGACGGTGTTCAGAATGTGAACCAGTGA
|
| Enzyme 6 GenBank Gene ID |
U15939  |
| Enzyme 6 GeneCard ID |
SLC19A1  |
| Enzyme 6 GenAtlas ID |
SLC19A1  |
| Enzyme 6 HGNC ID |
HGNC:10937  |
| Enzyme 6 Chromosome Location |
Not Available |
| Enzyme 6 Locus |
Not Available |
| Enzyme 6 SNPs |
SNPJam Report  |
| Enzyme 6 General References |
- Prasad PD, Ramamoorthy S, Leibach FH, Ganapathy V: Molecular cloning of the human placental folate transporter. Biochem Biophys Res Commun. 1995 Jan 17;206(2):681-7. [PubMed
]
- Wong SC, Proefke SA, Bhushan A, Matherly LH: Isolation of human cDNAs that restore methotrexate sensitivity and reduced folate carrier activity in methotrexate transport-defective Chinese hamster ovary cells. J Biol Chem. 1995 Jul 21;270(29):17468-75. [PubMed
]
- Moscow JA, Gong M, He R, Sgagias MK, Dixon KH, Anzick SL, Meltzer PS, Cowan KH: Isolation of a gene encoding a human reduced folate carrier (RFC1) and analysis of its expression in transport-deficient, methotrexate-resistant human breast cancer cells. Cancer Res. 1995 Sep 1;55(17):3790-4. [PubMed
]
- Williams FM, Flintoff WF: Isolation of a human cDNA that complements a mutant hamster cell defective in methotrexate uptake. J Biol Chem. 1995 Feb 17;270(7):2987-92. [PubMed
]
- Nguyen TT, Dyer DL, Dunning DD, Rubin SA, Grant KE, Said HM: Human intestinal folate transport: cloning, expression, and distribution of complementary RNA. Gastroenterology. 1997 Mar;112(3):783-91. [PubMed
]
- Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML: The DNA sequence of human chromosome 21. Nature. 2000 May 18;405(6784):311-9. [PubMed
]
- Ferguson PL, Flintoff WF: Topological and functional analysis of the human reduced folate carrier by hemagglutinin epitope insertion. J Biol Chem. 1999 Jun 4;274(23):16269-78. [PubMed
]
|
| Enzyme 6 Metabolite References |
Not Available |
|
Enzyme 7
[top]
|
| Enzyme 7 ID |
8126 |
| Enzyme 7 Name |
Thiamine transporter 1 |
| Enzyme 7 Synonyms |
- ThTr-1
- ThTr1
- Thiamine carrier 1
- TC1
- Solute carrier family 19 member 2
|
| Enzyme 7 Gene Name |
SLC19A2 |
| Enzyme 7 Protein Sequence |
>Thiamine transporter 1
MDVPGPVSRRAAAAAATVLLRTARVRRECWFLPTALLCAYGFFASLRPSEPFLTPYLLGP
DKNLTEREVFNEIYPVWTYSYLVLLFPVFLATDYLRYKPVVLLQGLSLIVTWFMLLYAQG
LLAIQFLEFFYGIATATEIAYYSYIYSVVDLGMYQKVTSYCRSATLVGFTVGSVLGQILV
SVAGWSLFSLNVISLTCVSVAFAVAWFLPMPQKSLFFHHIPSTCQRVNGIKVQNGGIVTD
TPASNHLPGWEDIESKIPLNMEEPPVEEPEPKPDRLLVLKVLWNDFLMCYSSRPLLCWSV
WWALSTCGYFQVVNYTQGLWEKVMPSRYAAIYNGGVEAVSTLLGAVAVFAVGYIKISWST
WGEMTLSLFSLLIAAAVYIMDTVGNIWVCYASYVVFRIIYMLLITIATFQIAANLSMERY
ALVFGVNTFIALALQTLLTLIVVDASGLGLEITTQFLIYASYFALIAVVFLASGAVSVMK
KCRKLEDPQSSSQVTTS
|
| Enzyme 7 Number of Residues |
497 |
| Enzyme 7 Molecular Weight |
55401 |
| Enzyme 7 Theoretical pI |
6.72 |
| Enzyme 7 GO Classification |
| Function |
- binding
- carrier activity
- electrochemical potential-driven transporter activity
- folic acid binding
- porter activity
- reduced folate carrier activity
- transporter activity
- vitamin binding
|
| Process |
- cellular physiological process
- physiological process
- transport
|
| Component |
|
|
| Enzyme 7 General Function |
Not Available |
| Enzyme 7 Specific Function |
High-affinity transporter for the intake of thiamine |
| Enzyme 7 Pathways |
Not Available |
| Enzyme 7 Reactions |
Not Available |
| Enzyme 7 Pfam Domain Function |
|
| Enzyme 7 Signals |
|
| Enzyme 7 Transmembrane Regions |
- 29-46
73-91
100-118
129-149
166-185
192-208
286-310
338-354
364-380
387-409
420-443
456-479
|
| Enzyme 7 Essentiality |
Not Available |
| Enzyme 7 GenBank ID Protein |
5514679  |
| Enzyme 7 UniProtKB/Swiss-Prot ID |
O60779  |
| Enzyme 7 UniProtKB/Swiss-Prot Entry Name |
S19A2_HUMAN  |
| Enzyme 7 PDB ID |
Not Available |
| Enzyme 7 Cellular Location |
Not Available |
| Enzyme 7 Gene Sequence |
>1494 bp
ATGGATGTGCCCGGCCCGGTGTCTCGGCGGGCGGCGGCGGCGGCGGCCACTGTGCTCCTG
CGGACCGCTCGGGTCCGTCGCGAATGCTGGTTCTTGCCGACCGCGCTGCTCTGCGCCTAC
GGCTTCTTCGCCAGCCTCAGGCCGTCCGAGCCCTTCCTGACCCCGTACCTGCTGGGGCCG
GACAAGAACCTGACCGAGAGGGAGGTCTTCAATGAAATTTATCCAGTATGGACTTACTCT
TACCTGGTGCTACTGTTTCCTGTGTTCCTTGCCACAGACTACCTCCGTTATAAACCTGTT
GTTCTACTGCAGGGGCTCAGCCTTATTGTTACATGGTTTATGCTGCTCTATGCCCAGGGA
CTGCTGGCCATTCAATTTCTAGAATTTTTTTATGGCATCGCCACAGCCACTGAAATTGCC
TATTACTCTTATATCTACAGTGTGGTGGACCTGGGCATGTACCAGAAAGTCACAAGTTAC
TGTCGAAGTGCCACTTTGGTGGGCTTTACAGTGGGCTCTGTCCTAGGGCAAATCCTTGTC
TCAGTGGCAGGCTGGTCGCTGTTCAGCCTGAATGTCATCTCTCTTACCTGTGTTTCAGTG
GCTTTTGCTGTGGCCTGGTTTTTACCTATGCCACAGAAGAGCCTCTTCTTTCACCACATT
CCTTCTACCTGCCAGAGAGTGAATGGCATCAAGGTACAAAATGGTGGCATTGTTACTGAC
ACCCCAGCTTCTAACCACCTTCCTGGCTGGGAGGACATTGAGTCAAAAATCCCTCTAAAT
ATGGAGGAGCCTCCCGTGGAGGAACCGGAACCCAAGCCAGACCGTCTCCTTGTATTGAAA
GTACTATGGAATGATTTCCTGATGTGCTACTCCTCTCGCCCTCTTCTCTGCTGGTCTGTG
TGGTGGGCCCTCTCTACCTGTGGCTATTTTCAAGTTGTGAACTACACACAGGGCCTGTGG
GAGAAAGTGATGCCTTCTCGCTATGCTGCTATCTATAATGGTGGCGTGGAGGCCGTTTCA
ACCTTACTGGGTGCTGTTGCTGTGTTTGCAGTTGGTTATATAAAAATATCCTGGTCAACT
TGGGGAGAAATGACATTATCTCTCTTTTCTCTCCTGATTGCTGCTGCAGTGTATATCATG
GACACTGTGGGTAACATTTGGGTGTGCTATGCATCCTATGTTGTCTTCAGAATCATCTAC
ATGTTACTCATCACGATAGCAACTTTTCAAATTGCTGCAAACCTCAGCATGGAACGCTAT
GCCCTAGTATTTGGTGTAAATACCTTCATTGCCCTGGCACTGCAGACGCTGCTCACTCTA
ATTGTGGTAGATGCCAGTGGCCTTGGATTAGAAATTACCACTCAGTTTTTGATCTATGCC
AGTTATTTTGCACTCATCGCTGTGGTTTTCCTGGCCAGTGGTGCAGTCAGTGTTATGAAG
AAATGTAGAAAGCTGGAAGATCCACAATCAAGTTCTCAAGTAACCACTTCATAA
|
| Enzyme 7 GenBank Gene ID |
AJ238413  |
| Enzyme 7 GeneCard ID |
SLC19A2  |
| Enzyme 7 GenAtlas ID |
SLC19A2  |
| Enzyme 7 HGNC ID |
HGNC:10938  |
| Enzyme 7 Chromosome Location |
1 |
| Enzyme 7 Locus |
1q23.3 |
| Enzyme 7 SNPs |
SNPJam Report  |
| Enzyme 7 General References |
- Labay V, Raz T, Baron D, Mandel H, Williams H, Barrett T, Szargel R, McDonald L, Shalata A, Nosaka K, Gregory S, Cohen N: Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nat Genet. 1999 Jul;22(3):300-4. [PubMed
]
- Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD: Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nat Genet. 1999 Jul;22(3):309-12. [PubMed
]
- Fleming JC, Tartaglini E, Steinkamp MP, Schorderet DF, Cohen N, Neufeld EJ: The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Nat Genet. 1999 Jul;22(3):305-8. [PubMed
]
- Dutta B, Huang W, Molero M, Kekuda R, Leibach FH, Devoe LD, Ganapathy V, Prasad PD: Cloning of the human thiamine transporter, a member of the folate transporter family. J Biol Chem. 1999 Nov 5;274(45):31925-9. [PubMed
]
- Raz T, Labay V, Baron D, Szargel R, Anbinder Y, Barrett T, Rabl W, Viana MB, Mandel H, Baruchel A, Cayuela JM, Cohen N: The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families. Hum Mutat. 2000;16(1):37-42. [PubMed
]
|
| Enzyme 7 Metabolite References |
Not Available |
|
Enzyme 8
[top]
|
| Enzyme 8 ID |
8723 |
| Enzyme 8 Name |
Folate receptor gamma precursor |
| Enzyme 8 Synonyms |
- FR-gamma
- Folate receptor 3
|
| Enzyme 8 Gene Name |
FOLR3 |
| Enzyme 8 Protein Sequence |
>Folate receptor gamma precursor
MAWQMMQLLLLALVTAAGSAQPRSARARTDLLNVCMNAKHHKTQPSPEDELYGQCSPWKK
NACCTASTSQELHKDTSRLYNFNWDHCGKMEPTCKRHFIQDSCLYECSPNLGPWIRQVNQ
SWRKERILNVPLCKEDCERWWEDCRTSYTCKSNWHKGWNWTSGINECPAGALCSTFESYF
PTPAALCEGLWSHSFKVSNYSRGSGRCIQMWFDSAQGNPNEEVAKFYAAAMNAGAPSRGI
IDS
|
| Enzyme 8 Number of Residues |
243 |
| Enzyme 8 Molecular Weight |
27638 |
| Enzyme 8 Theoretical pI |
7.88 |
| Enzyme 8 GO Classification |
Not Available |
| Enzyme 8 General Function |
Not Available |
| Enzyme 8 Specific Function |
Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells. Isoform Short does not bind folate |
| Enzyme 8 Pathways |
Not Available |
| Enzyme 8 Reactions |
Not Available |
| Enzyme 8 Pfam Domain Function |
|
| Enzyme 8 Signals |
|
| Enzyme 8 Transmembrane Regions |
Not Available |
| Enzyme 8 Essentiality |
Not Available |
| Enzyme 8 GenBank ID Protein |
473236  |
| Enzyme 8 UniProtKB/Swiss-Prot ID |
P41439  |
| Enzyme 8 UniProtKB/Swiss-Prot Entry Name |
FOLR3_HUMAN  |
| Enzyme 8 PDB ID |
Not Available |
| Enzyme 8 Cellular Location |
Not Available |
| Enzyme 8 Gene Sequence |
>732 bp
ATGGCCTGGCAGATGATGCAGCTGCTGCTTCTGGCTTTGGTGACTGCTGCGGGGAGTGCC
CAGCCCAGGAGTGCGCGGGCCAGGACGGACCTGCTCAATGTCTGCATGAACGCCAAGCAC
CACAAGACACAGCCCAGCCCCGAGGACGAGCTGTATGGCCAGTGCAGTCCCTGGAAGAAG
AATGCCTGCTGCACGGCCAGCACCAGCCAGGAGCTGCACAAGGACACCTCCCGCCTGTAC
AACTTTAACTGGGATCACTGTGGTAAGATGGAACCCACCTGCAAGCGCCACTTTATCCAG
GACAGCTGTCTCTATGAGTGCTCACCCAACCTGGGGCCCTGGATCCGGCAGGTCAACCAG
AGCTGGCGCAAAGAGCGCATTCTGAACGTGCCCCTGTGCAAAGAGGACTGTGAGCGCTGG
TGGGAGGACTGTCGCACCTCCTACACCTGCAAAAGCAACTGGCACAAAGGCTGGAATTGG
ACCTCAGGGATTAATGAGTGTCCGGCCGGGGCCCTCTGCAGCACCTTTGAGTCCTACTTC
CCCACTCCAGCCGCCCTTTGTGAAGGCCTCTGGAGCCACTCCTTCAAGGTCAGCAACTAT
AGTCGAGGGAGCGGCCGCTGCATCCAGATGTGGTTTGACTCAGCCCAGGGCAACCCCAAT
GAGGAGGTGGCCAAGTTCTATGCTGCGGCCATGAATGCTGGGGCCCCGTCTCGTGGGATT
ATTGATTCCTGA
|
| Enzyme 8 GenBank Gene ID |
Z32564  |
| Enzyme 8 GeneCard ID |
FOLR3  |
| Enzyme 8 GenAtlas ID |
FOLR3  |
| Enzyme 8 HGNC ID |
HGNC:3795  |
| Enzyme 8 Chromosome Location |
11 |
| Enzyme 8 Locus |
11q13 |
| Enzyme 8 SNPs |
SNPJam Report  |
| Enzyme 8 General References |
- Shen F, Ross JF, Wang X, Ratnam M: Identification of a novel folate receptor, a truncated receptor, and receptor type beta in hematopoietic cells: cDNA cloning, expression, immunoreactivity, and tissue specificity. Biochemistry. 1994 Feb 8;33(5):1209-15. [PubMed
]
- Shen F, Wu M, Ross JF, Miller D, Ratnam M: Folate receptor type gamma is primarily a secretory protein due to lack of an efficient signal for glycosylphosphatidylinositol modification: protein characterization and cell type specificity. Biochemistry. 1995 Apr 25;34(16):5660-5. [PubMed
]
|
| Enzyme 8 Metabolite References |
Not Available |
|
Enzyme 9
[top]
|
| Enzyme 9 ID |
13030 |
| Enzyme 9 Name |
Dihydrofolate reductase (cDNA, FLJ93028, Homo sapiens dihydrofolate reductase (DHFR), mRNA) |
| Enzyme 9 Synonyms |
Not Available |
| Enzyme 9 Gene Name |
DYR |
| Enzyme 9 Protein Sequence |
>Dihydrofolate reductase (cDNA, FLJ93028, Homo sapiens dihydrofolate reductase (DHFR), mRNA)
MVGSLNCIVAVSQNMGIGKNGDLPWPPLRNEFRYFQRMTTTSSVEGKQNLVIMGKKTWFS
IPEKNRPLKGRINLVLSRELKEPPQGAHFLSRSLDDALKLTEQPELANKVDMVWIVGGSS
VYKEAMNHPGHLKLFVTRIMQDFESDTFFPEIDLEKYKLLPEYPGVLSDVQEEKGIKYKF
EVYEKND
|
| Enzyme 9 Number of Residues |
187 |
| Enzyme 9 Molecular Weight |
21453 |
| Enzyme 9 Theoretical pI |
Not Available |
| Enzyme 9 GO Classification |
Not Available |
| Enzyme 9 General Function |
Not Available |
| Enzyme 9 Specific Function |
Not Available |
| Enzyme 9 Pathways |
Not Available |
| Enzyme 9 Reactions |
Not Available |
| Enzyme 9 Pfam Domain Function |
|
| Enzyme 9 Signals |
|
| Enzyme 9 Transmembrane Regions |
|
| Enzyme 9 Essentiality |
Not Available |
| Enzyme 9 GenBank ID Protein |
Not Available |
| Enzyme 9 UniProtKB/Swiss-Prot ID |
B0YJ76  |
| Enzyme 9 UniProtKB/Swiss-Prot Entry Name |
B0YJ76_HUMAN  |
| Enzyme 9 PDB ID |
Not Available |
| Enzyme 9 Cellular Location |
Not Available |
| Enzyme 9 Gene Sequence |
Not Available |
| Enzyme 9 GenBank Gene ID |
Not Available |
| Enzyme 9 GeneCard ID |
B0YJ76  |
| Enzyme 9 GenAtlas ID |
Not Available |
| Enzyme 9 HGNC ID |
Not Available |
| Enzyme 9 Chromosome Location |
Not Available |
| Enzyme 9 Locus |
Not Available |
| Enzyme 9 SNPs |
SNPJam Report  |
| Enzyme 9 General References |
Not Available |
| Enzyme 9 Metabolite References |
Not Available |
|
Enzyme 10
[top]
|
| Enzyme 10 ID |
17142 |
| Enzyme 10 Name |
Folate receptor beta |
| Enzyme 10 Synonyms |
- FR-beta
- Folate receptor 2
- Folate receptor, fetal/placental
- Placental folate-binding protein
- FBP
|
| Enzyme 10 Gene Name |
FOLR2 |
| Enzyme 10 Protein Sequence |
>Folate receptor beta
MVWKWMPLLLLLVCVATMCSAQDRTDLLNVCMDAKHHKTKPGPEDKLHDQCSPWKKNACC
TASTSQELHKDTSRLYNFNWDHCGKMEPACKRHFIQDTCLYECSPNLGPWIQQVNQSWRK
ERFLDVPLCKEDCQRWWEDCHTSHTCKSNWHRGWDWTSGVNKCPAGALCRTFESYFPTPA
ALCEGLWSHSYKVSNYSRGSGRCIQMWFDSAQGNPNEEVARFYAAAMHVNAGEMLHGTGG
LLLSLALMLQLWLLG
|
| Enzyme 10 Number of Residues |
255 |
| Enzyme 10 Molecular Weight |
29280 |
| Enzyme 10 Theoretical pI |
7.56 |
| Enzyme 10 GO Classification |
Not Available |
| Enzyme 10 General Function |
Not Available |
| Enzyme 10 Specific Function |
Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells |
| Enzyme 10 Pathways |
Not Available |
| Enzyme 10 Reactions |
Not Available |
| Enzyme 10 Pfam Domain Function |
|
| Enzyme 10 Signals |
|
| Enzyme 10 Transmembrane Regions |
|
| Enzyme 10 Essentiality |
Not Available |
| Enzyme 10 GenBank ID Protein |
Not Available |
| Enzyme 10 UniProtKB/Swiss-Prot ID |
P14207  |
| Enzyme 10 UniProtKB/Swiss-Prot Entry Name |
FOLR2_HUMAN  |
| Enzyme 10 PDB ID |
Not Available |
| Enzyme 10 Cellular Location |
Not Available |
| Enzyme 10 Gene Sequence |
Not Available |
| Enzyme 10 GenBank Gene ID |
X69516  |
| Enzyme 10 GeneCard ID |
P14207  |
| Enzyme 10 GenAtlas ID |
FOLR2  |
| Enzyme 10 HGNC ID |
HGNC:3793  |
| Enzyme 10 Chromosome Location |
11 |
| Enzyme 10 Locus |
11q13.3-q13.5 |
| Enzyme 10 SNPs |
SNPJam Report  |
| Enzyme 10 General References |
- Page ST, Owen WC, Price K, Elwood PC: Expression of the human placental folate receptor transcript is regulated in human tissues. Organization and full nucleotide sequence of the gene. J Mol Biol. 1993 Feb 20;229(4):1175-83. [PubMed
]
- Ratnam M, Marquardt H, Duhring JL, Freisheim JH: Homologous membrane folate binding proteins in human placenta: cloning and sequence of a cDNA. Biochemistry. 1989 Oct 3;28(20):8249-54. [PubMed
]
- Sadasivan E, Cedeno MM, Rothenberg SP: Characterization of the gene encoding a folate-binding protein expressed in human placenta. Identification of promoter activity in a G-rich SP1 site linked with the tandemly repeated GGAAG motif for the ets encoded GA-binding protein. J Biol Chem. 1994 Feb 18;269(7):4725-35. [PubMed
]
- Freisheim JH, Price EM, Ratnam M: Folate coenzyme and antifolate transport proteins in normal and neoplastic cells. Adv Enzyme Regul. 1989;29:13-26. [PubMed
]
- Yan W, Ratnam M: Preferred sites of glycosylphosphatidylinositol modification in folate receptors and constraints in the primary structure of the hydrophobic portion of the signal. Biochemistry. 1995 Nov 7;34(44):14594-600. [PubMed
]
- Wang J, Shen F, Yan W, Wu M, Ratnam M: Proteolysis of the carboxyl-terminal GPI signal independent of GPI modification as a mechanism for selective protein secretion. Biochemistry. 1997 Nov 25;36(47):14583-92. [PubMed
]
|
| Enzyme 10 Metabolite References |
Not Available |
|
Enzyme 11
[top]
|
| Enzyme 11 ID |
17143 |
| Enzyme 11 Name |
Mitochondrial folate transporter/carrier |
| Enzyme 11 Synonyms |
- Solute carrier family 25 member 32
|
| Enzyme 11 Gene Name |
SLC25A32 |
| Enzyme 11 Protein Sequence |
>Mitochondrial folate transporter/carrier
MTGQGQSASGSSAWSTVFRHVRYENLIAGVSGGVLSNLALHPLDLVKIRFAVSDGLELRP
KYNGILHCLTTIWKLDGLRGLYQGVTPNIWGAGLSWGLYFFFYNAIKSYKTEGRAERLEA
TEYLVSAAEAGAMTLCITNPLWVTKTRLMLQYDAVVNSPHRQYKGMFDTLVKIYKYEGVR
GLYKGFVPGLFGTSHGALQFMAYELLKLKYNQHINRLPEAQLSTVEYISVAALSKIFAVA
ATYPYQVVRARLQDQHMFYSGVIDVITKTWRKEGVGGFYKGIAPNLIRVTPACCITFVVY
ENVSHFLLDLREKRK
|
| Enzyme 11 Number of Residues |
315 |
| Enzyme 11 Molecular Weight |
35408 |
| Enzyme 11 Theoretical pI |
9.79 |
| Enzyme 11 GO Classification |
| Function |
- binding
- transporter activity
|
| Process |
- cellular physiological process
- physiological process
- transport
|
| Component |
- cell
- membrane
- mitochondrial inner membrane
- organelle inner membrane
- organelle membrane
|
|
| Enzyme 11 General Function |
Not Available |
| Enzyme 11 Specific Function |
Transports folate across the inner membranes of mitochondria |
| Enzyme 11 Pathways |
Not Available |
| Enzyme 11 Reactions |
Not Available |
| Enzyme 11 Pfam Domain Function |
|
| Enzyme 11 Signals |
|
| Enzyme 11 Transmembrane Regions |
- 26-43
89-106
123-143
186-203
227-243
281-300
|
| Enzyme 11 Essentiality |
Not Available |
| Enzyme 11 GenBank ID Protein |
Not Available |
| Enzyme 11 UniProtKB/Swiss-Prot ID |
Q9H2D1  |
| Enzyme 11 UniProtKB/Swiss-Prot Entry Name |
MFTC_HUMAN  |
| Enzyme 11 PDB ID |
Not Available |
| Enzyme 11 Cellular Location |
Not Available |
| Enzyme 11 Gene Sequence |
Not Available |
| Enzyme 11 GenBank Gene ID |
AF283645  |
| Enzyme 11 GeneCard ID |
Q9H2D1  |
| Enzyme 11 GenAtlas ID |
SLC25A32  |
| Enzyme 11 HGNC ID |
HGNC:29683  |
| Enzyme 11 Chromosome Location |
Not Available |
| Enzyme 11 Locus |
Not Available |
| Enzyme 11 SNPs |
SNPJam Report  |
| Enzyme 11 General References |
- Titus SA, Moran RG: Retrovirally mediated complementation of the glyB phenotype. Cloning of a human gene encoding the carrier for entry of folates into mitochondria. J Biol Chem. 2000 Nov 24;275(47):36811-7. [PubMed
]
|
| Enzyme 11 Metabolite References |
Not Available |
|
Enzyme 12
[top]
|
| Enzyme 12 ID |
17144 |
| Enzyme 12 Name |
Folate transporter-like protein DKFZp547H025 |
| Enzyme 12 Synonyms |
Not Available |
| Enzyme 12 Gene Name |
Not Available |
| Enzyme 12 Protein Sequence |
>Folate transporter-like protein DKFZp547H025
MEDYALTFGINPFIALMIQPIVTMTVVDNQGLGLPVDIQHKAKPSPKASQMLPPDLGPPS
FQNLLSPSEKLEPWDPGMRKLTVQTCGLTFIHPAGHGLCHPTAEASAETLSSTALNRPSV
REGACNEKSTENKKPQDSVLWSHSRWFQGN
|
| Enzyme 12 Number of Residues |
150 |
| Enzyme 12 Molecular Weight |
16373 |
| Enzyme 12 Theoretical pI |
6.67 |
| Enzyme 12 GO Classification |
| Function |
- binding
- carrier activity
- electrochemical potential-driven transporter activity
- folic acid binding
- porter activity
- reduced folate carrier activity
- transporter activity
- vitamin binding
|
| Process |
- cellular physiological process
- physiological process
- transport
|
| Component |
|
|
| Enzyme 12 General Function |
Not Available |
| Enzyme 12 Specific Function |
Not Available |
| Enzyme 12 Pathways |
Not Available |
| Enzyme 12 Reactions |
Not Available |
| Enzyme 12 Pfam Domain Function |
|
| Enzyme 12 Signals |
|
| Enzyme 12 Transmembrane Regions |
|
| Enzyme 12 Essentiality |
Not Available |
| Enzyme 12 GenBank ID Protein |
Not Available |
| Enzyme 12 UniProtKB/Swiss-Prot ID |
Q53S99  |
| Enzyme 12 UniProtKB/Swiss-Prot Entry Name |
S19AL_HUMAN  |
| Enzyme 12 PDB ID |
Not Available |
| Enzyme 12 Cellular Location |
Not Available |
| Enzyme 12 Gene Sequence |
Not Available |
| Enzyme 12 GenBank Gene ID |
AL359944  |
| Enzyme 12 GeneCard ID |
Q53S99  |
| Enzyme 12 GenAtlas ID |
C2orf83  |
| Enzyme 12 HGNC ID |
HGNC:25344  |
| Enzyme 12 Chromosome Location |
Not Available |
| Enzyme 12 Locus |
Not Available |
| Enzyme 12 SNPs |
Not Available |
| Enzyme 12 General References |
Not Available |
| Enzyme 12 Metabolite References |
Not Available |
|
Enzyme 13
[top]
|
| Enzyme 13 ID |
17145 |
| Enzyme 13 Name |
Probable folate receptor delta |
| Enzyme 13 Synonyms |
- FR-delta
- Folate receptor 4
|
| Enzyme 13 Gene Name |
FOLR4 |
| Enzyme 13 Protein Sequence |
>Probable folate receptor delta
MACWWPLLLELWTVMPTWAGDELLNICMNAKHHKRVPSPEDKLYEECIPWKDNACCTLTT
SWEAHLDVSPLYNFSLFHCGLLMPGCRKHFIQAICFYECSPNLGPWIQPVGSLGWEGERV
VNVPLCQEDCEEWWEDCRMSYTCKSNWRGGWDWSQGKNRCPKGAQCLPFSHYFPTPADLC
EKTWSNSFKASPERRNSGRCLQKWFEPAQGNPNVAVARLFASSAPSWELSYTIMVCSLFL
PFLS
|
| Enzyme 13 Number of Residues |
244 |
| Enzyme 13 Molecular Weight |
28132 |
| Enzyme 13 Theoretical pI |
6.22 |
| Enzyme 13 GO Classification |
Not Available |
| Enzyme 13 General Function |
Not Available |
| Enzyme 13 Specific Function |
Not Available |
| Enzyme 13 Pathways |
Not Available |
| Enzyme 13 Reactions |
Not Available |
| Enzyme 13 Pfam Domain Function |
|
| Enzyme 13 Signals |
|
| Enzyme 13 Transmembrane Regions |
|
| Enzyme 13 Essentiality |
Not Available |
| Enzyme 13 GenBank ID Protein |
Not Available |
| Enzyme 13 UniProtKB/Swiss-Prot ID |
A6ND01  |
| Enzyme 13 UniProtKB/Swiss-Prot Entry Name |
FOLR4_HUMAN  |
| Enzyme 13 PDB ID |
Not Available |
| Enzyme 13 Cellular Location |
Not Available |
| Enzyme 13 Gene Sequence |
Not Available |
| Enzyme 13 GenBank Gene ID |
AP002784  |
| Enzyme 13 GeneCard ID |
A6ND01  |
| Enzyme 13 GenAtlas ID |
Not Available |
| Enzyme 13 HGNC ID |
Not Available |
| Enzyme 13 Chromosome Location |
11 |
| Enzyme 13 Locus |
11q21 |
| Enzyme 13 SNPs |
SNPJam Report  |
| Enzyme 13 General References |
Not Available |
| Enzyme 13 Metabolite References |
Not Available |