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Human Metabolome Database Version 2.5

 

Showing metabocard for Galactose 1-phosphate (HMDB00645)

Legend: metabolite field enzyme field

Version 2.5
Creation Date 2005-11-16 15:48:42
Update Date 2009-05-05 20:58:10
Accession Number HMDB00645
Secondary Accession Numbers HMDB03359
Common Name Galactose 1-phosphate
Description Galactose 1-phosphate is an intermediate in the Galactose metabolism and Nucleotide sugars metabolism pathways (KEGG) Galactose-1-phosphate is an intermediate in the intraconversion of glucose and galactose. It is formed from galactose by galactokinase. (Wikipeida)
Synonyms
  1. 1-(dihydrogen phosphate) Galactitol
  2. 1-phosphate a-D-Galactopyranose
  3. D-Galactose 1-phosphate
  4. Galactopyranose 1-phosphate
  5. Galactose 1-phosphate
  6. Galactose 1-phosphic acid
  7. a-D-1-(dihydrogen phosphate) Galactopyranose
  8. a-D-Galactopyranosyl phosphate
  9. a-D-Galactose 1-phosphate
  10. a-D-Galactosyl phosphate
  11. alpha-D-1-(dihydrogen phosphate) Galactopyranose
  12. alpha-D-Galactopyranosyl phosphate
  13. alpha-D-Galactose 1-phosphate
  14. alpha-D-Galactosyl phosphate
Chemical IUPAC Name a-D-Galactopyranose, 1-(dihydrogen phosphate)
Chemical Formula C6H13O9P
Chemical Structure Structure
Chemical Taxonomy
Kingdom
  • Organic
Super Class
  • Carbohydrates and Carbohydrate conjugates
Class
  • Sugar Phosphates
Sub Class
  • Monosaccharide phosphates
Family
  • Mammalian Metabolite
Species
  • primary alcohol
  • secondary alcohol
  • 1,2-diol
  • phosphoric acid ester
  • heterocyclic compound
Biofunction
  • Component of Galactose metabolism
  • Component of Nucleotide sugars metabolism
Application
—
Source
  • Endogenous
Average Molecular Weight 260.136
Monoisotopic Molecular Weight 260.029724
Isomeric SMILES OC[C@H]1O[C@H](OP(O)(O)=O)[C@H](O)[C@@H](O)[C@H]1O
Canonical SMILES OCC1OC(OP(O)(O)=O)C(O)C(O)C1O
KEGG Compound ID C00446 Link Image
BioCyc ID GALACTOSE-1P Link Image
BiGG ID 35001 Link Image
Wikipedia Link Galactose 1-phosphate Link Image
NuGOwiki Link HMDB00645 Link Image
Metagene Link HMDB00645 Link Image
METLIN ID 5618 Link Image
PubChem Compound 439995 Link Image
PubChem Substance 10298510 Link Image
ChEBI ID Not Available
CAS Registry Number 2255-14-3
InChI Identifier InChI=1/C6H13O9P/c7-1-2-3(8)4(9)5(10)6(14-2)15-16(11,12)13/h2-10H,1H2,(H2,11,12,13)/t2-,3+,4+,5-,6-/m1/s1
Synthesis Reference Chen Jie; Yager Claire; Reynolds Robert; Palmieri Michael; Segal Stanton Erythrocyte galactose 1-phosphate quantified by isotope-dilution gas chromatography-mass spectrometry. Clinical chemistry (2002), 48(4), 604-12.
Melting Point (Experimental) Not Available
Experimental Water Solubility Not Available Source: PhysProp
Predicted Water Solubility 32.3 mg/mL [Predicted by ALOGPS] Calculated using ALOGPS
Physiological Charge -2
State Solid
Experimental LogP/Hydrophobicity Not Available Source: PhysProp
Predicted LogP/Hydrophobicity -2.00 [Predicted by ALOGPS]; -3.8 [Predicted by PubChem via XLOGP] Calculated using ALOGPS
Material Safety Data Sheet (MSDS) Not Available
MOL File Show
SDF File Show
PDB File Show
2D Structure
3D Structure
Experimental PDB ID Not Available
Experimental 1H NMR Spectrum Not Available
Experimental 13C NMR Spectrum Not Available
Experimental 13C HSQC Spectrum Not Available
Predicted 1H NMR Spectrum Show Image
Show Peaklist
Predicted 13C NMR Spectrum Show Image
Show Peaklist
Mass Spectrum Not Available
Simplified TOCSY Spectrum Not Available
BMRB Spectrum Not Available
Cellular Location
  • Cytoplasm (Predicted from LogP)
Biofluid Location
  • Blood
Tissue Location
Tissue References
Erythrocyte —
Red Blood Cell —
Concentrations (Normal)
Biofluid Blood
Value 65.0 +/- 31.0 uM
Age Newborn:0-30 days 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 Blood
Value 31.0 (0.0-57.0) uM
Age Children:1-13 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.
Concentrations (Abnormal) Not Available
Associated Disorders Not Available
OMIM ID Not Available
Pathways
Name SMPDB Link KEGG Link
Galactose Metabolism SMP00043 Link Image map00052 Link Image
Lactose Synthesis SMP00444 Link Image
Nucleotide Sugars Metabolism SMP00010 Link Image map00520 Link Image
General References
  1. Endres W: Inherited metabolic diseases affecting the carrier. J Inherit Metab Dis. 1997 Mar;20(1):9-20. [PubMed Link Image]
  2. Ono H, Mawatari H, Mizoguchi N, Eguchi T, Sakura N, Hamakawa M: Transient galactosemia detected by neonatal mass screening. Pediatr Int. 1999 Jun;41(3):281-4. [PubMed Link Image]
  3. Guerrero NV, Singh RH, Manatunga A, Berry GT, Steiner RD, Elsas LJ 2nd: Risk factors for premature ovarian failure in females with galactosemia. J Pediatr. 2000 Dec;137(6):833-41. [PubMed Link Image]
  4. Schaub J, Remberger K, Endres W, Bremer HJ: Galactosemia with endogenous production of galactose-1-phosphate and with cystic fibrosis-like appearance at autopsy. Helv Paediatr Acta. 1976 Jun;31(1):67-76. [PubMed Link Image]
  5. Bozkowa K, Zbieg-Sendecka E, Grodzka Z, Cabalska B: [Clinical and biochemical diagnosis of galactosemia among our cases] Probl Med Wieku Rozwoj. 1979;8:63-9. [PubMed Link Image]
  6. Dahlqvist A: A fluorometric method for the assay of galactose-1-phosphate in red blood cells. J Lab Clin Med. 1971 Dec;78(6):931-8. [PubMed Link Image]
  7. Berry GT, Palmieri M, Gross KC, Acosta PB, Henstenburg JA, Mazur A, Reynolds R, Segal S: The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency. J Inherit Metab Dis. 1993;16(1):91-100. [PubMed Link Image]
  8. Bozkowa K, Duchnowska A, Chojnacki T, Mankowski T: [New radioisotope method of quantitative determination of galactose-1-phosphate in red blood cells in galactosemia] Pol Tyg Lek. 1975 Dec 22;30(51):2123-6. [PubMed Link Image]
  9. Wharton CH, Berry HK, Bofinger MK: Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote. Clin Genet. 1978 Feb;13(2):171-5. [PubMed Link Image]
  10. Ning C, Reynolds R, Chen J, Yager C, Berry GT, McNamara PD, Leslie N, Segal S: Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency. Pediatr Res. 2000 Aug;48(2):211-7. [PubMed Link Image]
  11. Gitzelmann R, Steinmann B, Mitchell B, Haigis E: Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families. Helv Paediatr Acta. 1977 Apr;31(6):441-52. [PubMed Link Image]
  12. Barbouth D, Slepak T, Klapper H, Lai K, Elsas LJ: Prevention of a molecular misdiagnosis in galactosemia. Genet Med. 2006 Mar;8(3):178-82. [PubMed Link Image]
  13. Mankowski T, Radomyska B, Zbieg-Sendecka E: Preliminary results of UDP galactose pyrophosphorylase in the erythrocytes of healthy persons and in patients with galactosaemia. Mater Med Pol. 1990 Jul-Sep;22(3):191-3. [PubMed Link Image]
  14. Moller HE, Ullrich K, Vermathen P, Schuierer G, Koch HG: In vivo study of brain metabolism in galactosemia by 1H and 31P magnetic resonance spectroscopy. Eur J Pediatr. 1995;154(7 Suppl 2):S8-13. [PubMed Link Image]
  15. Barth CA, Kopra N: Oral intake of glucose plus galactose and erythrocyte galactose-1-phosphate. A nutritional evaluation of hydrolyzed lactose. Z Ernahrungswiss. 1986 Sep;25(3):171-9. [PubMed Link Image]
  16. Pesce MA, Bodourian SH: Clinical significance of plasma galactose and erythrocyte galactose-1-phosphate measurements in transferase-deficient galactosemia and in individuals with below-normal transferase activity. Clin Chem. 1982 Feb;28(2):301-5. [PubMed Link Image]
  17. Schadewaldt P, Kamalanathan L, Hammen HW, Wendel U: Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients. Mol Genet Metab. 2004 Jan;81(1):31-44. [PubMed Link Image]
  18. Pesce MA, Bodourian SH, Nicholson JF: A new microfluorometric method for the measurement of galactose-1-phosphate in erythrocytes. Clin Chim Acta. 1982 Feb 5;118(2-3):177-89. [PubMed Link Image]
  19. Wikipedia Link Image
Metabolic Enzymes
  1. Galactose-1-phosphate uridylyltransferase
  2. Galactokinase
  3. Galactokinase 2 variant
  4. Galactose-1-phosphate uridylyltransferase
Enzyme 1 [top]
Enzyme 1 ID 6381
Enzyme 1 Name Galactose-1-phosphate uridylyltransferase
Enzyme 1 Synonyms
  1. Gal-1-P uridylyltransferase
  2. UDP-glucose--hexose-1-phosphate uridylyltransferase
Enzyme 1 Gene Name GALT
Enzyme 1 Protein Sequence >Galactose-1-phosphate uridylyltransferase 
MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQ
LLKTVPRHDPLNPLCPGAIRANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAK
SARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGC
SNPHPHCQVWASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWL
VLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGW
HGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRA
LPEVHYHLGQKDRETATIA
Enzyme 1 Number of Residues 379
Enzyme 1 Molecular Weight 43364
Enzyme 1 Theoretical pI 6.99
Enzyme 1 GO Classification
Function
  • UDP-glucose:hexose-1-phosphate uridylyltransferase activity
  • catalytic activity
  • nucleotidyltransferase activity
  • transferase activity
  • transferase activity, transferring phosphorus-containing groups
Process
  • alcohol metabolism
  • cellular metabolism
  • galactose metabolism
  • hexose metabolism
  • metabolism
  • monosaccharide metabolism
  • physiological process
Component
—
Enzyme 1 General Function Energy production and conversion
Enzyme 1 Specific Function UDP-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate + UDP-galactose
Enzyme 1 Pathways
Enzyme 1 Reactions
  • UDP-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate + UDPgalactose
Enzyme 1 Pfam Domain Function
Enzyme 1 Signals
  • None
Enzyme 1 Transmembrane Regions
  • None
Enzyme 1 Essentiality Not Available
Enzyme 1 GenBank ID Protein 182951 Link Image
Enzyme 1 UniProtKB/Swiss-Prot ID P07902 Link Image
Enzyme 1 UniProtKB/Swiss-Prot Entry Name GALT_HUMAN Link Image
Enzyme 1 PDB ID Not Available
Enzyme 1 Cellular Location Not Available
Enzyme 1 Gene Sequence >1140 bp 
ATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCA
GCAGCAACCTTCCGGGCAAACGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAG
TGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAG
CTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGA
GCCAACGGAGAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCA
GCTCTGCAGCCTGATGCCCCCAGTCCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAG
TCTGCTCGAGGAGTCTGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCA
CTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAG
CTGGGTGCCCAGTACCCTTGGGTGCAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGT
TCTAACCCCCACCCCCACTGCCAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAG
CGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAG
TACAGCCGCCAGGAGCTACTCAGGAAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTA
GTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCGTCGGCCAT
GTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGATCTAGCCTCCATCATGAAG
AAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGG
CATGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCT
CATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAA
ATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGCTGCAGAGAGACTAAGGGCA
CTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCATCGCCTGA
Enzyme 1 GenBank Gene ID M60091 Link Image
Enzyme 1 GeneCard ID GALT Link Image
Enzyme 1 GenAtlas ID GALT Link Image
Enzyme 1 HGNC ID HGNC:4135 Link Image
Enzyme 1 Chromosome Location 9
Enzyme 1 Locus 9p13
Enzyme 1 SNPs SNPJam Report Link Image
Enzyme 1 General References
  1. Reichardt JK, Berg P: Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase. Mol Biol Med. 1988 Apr;5(2):107-22. [PubMed Link Image]
  2. Flach JE, Reichardt JK, Elsas LJ 2nd: Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase. Mol Biol Med. 1990 Aug;7(4):365-9. [PubMed Link Image]
  3. Leslie ND, Immerman EB, Flach JE, Florez M, Fridovich-Keil JL, Elsas LJ: The human galactose-1-phosphate uridyltransferase gene. Genomics. 1992 Oct;14(2):474-80. [PubMed Link Image]
  4. Reichardt JK: Genetic basis of galactosemia. Hum Mutat. 1992;1(3):190-6. [PubMed Link Image]
  5. Tyfield L, Reichardt J, Fridovich-Keil J, Croke DT, Elsas LJ 2nd, Strobl W, Kozak L, Coskun T, Novelli G, Okano Y, Zekanowski C, Shin Y, Boleda MD: Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat. 1999;13(6):417-30. [PubMed Link Image]
  6. Reichardt JK, Packman S, Woo SL: Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. Am J Hum Genet. 1991 Oct;49(4):860-7. [PubMed Link Image]
  7. Reichardt JK, Woo SL: Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. Proc Natl Acad Sci U S A. 1991 Apr 1;88(7):2633-7. [PubMed Link Image]
  8. Reichardt JK, Levy HL, Woo SL: Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase. Biochemistry. 1992 Jun 23;31(24):5430-3. [PubMed Link Image]
  9. Reichardt JK, Belmont JW, Levy HL, Woo SL: Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia. Genomics. 1992 Mar;12(3):596-600. [PubMed Link Image]
  10. Reichardt JK, Novelli G, Dallapiccola B: Molecular characterization of the H319Q galactosemia mutation. Hum Mol Genet. 1993 Mar;2(3):325-6. [PubMed Link Image]
  11. Lin HC, Kirby LT, Ng WG, Reichardt JK: On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT). Hum Genet. 1994 Feb;93(2):167-9. [PubMed Link Image]
  12. Elsas LJ, Langley S, Steele E, Evinger J, Fridovich-Keil JL, Brown A, Singh R, Fernhoff P, Hjelm LN, Dembure PP: Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. Am J Hum Genet. 1995 Mar;56(3):630-9. [PubMed Link Image]
  13. Fridovich-Keil JL, Langley SD, Mazur LA, Lennon JC, Dembure PP, Elsas JL 2nd: Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family. Am J Hum Genet. 1995 Mar;56(3):640-6. [PubMed Link Image]
  14. Sommer M, Gathof BS, Podskarbi T, Giugliani R, Kleinlein B, Shin YS: Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants. J Inherit Metab Dis. 1995;18(5):567-76. [PubMed Link Image]
  15. Ashino J, Okano Y, Suyama I, Yamazaki T, Yoshino M, Furuyama J, Lin HC, Reichardt JK, Isshiki G: Molecular characterization of galactosemia (type 1) mutations in Japanese. Hum Mutat. 1995;6(1):36-43. [PubMed Link Image]
  16. Shin YS, Gathof BS, Podskarbi T, Sommer M, Giugliani R, Gresser U: Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia. Eur J Pediatr. 1996 May;155(5):393-7. [PubMed Link Image]
  17. Maceratesi P, Sangiuolo F, Novelli G, Ninfali P, Magnani M, Reichardt JK, Dallapiccola B: Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency. Hum Mutat. 1996;8(4):369-72. [PubMed Link Image]
  18. Ninfali P, Bresolin N, Dallapiccola B, Novelli G: Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle. J Neurol. 1996 Jan;243(1):102-3. [PubMed Link Image]
  19. Greber-Platzer S, Guldberg P, Scheibenreiter S, Item C, Schuller E, Patel N, Strobl W: Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. Hum Mutat. 1997;10(1):49-57. [PubMed Link Image]
  20. Seyrantepe V, Ozguc M, Coskun T, Ozalp I, Reichardt JK: Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online. Hum Mutat. 1999;13(4):339. [PubMed Link Image]
Enzyme 1 Metabolite References Not Available
Enzyme 2 [top]
Enzyme 2 ID 6675
Enzyme 2 Name Galactokinase
Enzyme 2 Synonyms
  1. Galactose kinase
Enzyme 2 Gene Name GALK1
Enzyme 2 Protein Sequence >Galactokinase 
MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMALELM
TVLVGSPRKDGLVSLLTTSEGADEPQRLQFPLPTAQRSLEPGTPRWANYVKGVIQYYPAA
PLPGFSAVVVSSVPLGGGLSSSASLEVATYTFLQQLCPDSGTIAARAQVCQQAEHSFAGM
PCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKLAVLITNSNVRHSLASSEYPVRR
RQCEEVARALGKESLREVQLEELEAARDLVSKEGFRRARHVVGEIRRTAQAAAALRRGDY
RAFGRLMVESHRSLRDDYEVSCPELDQLVEAALAVPGVYGSRMTGGGFGGCTVTLLEASA
APHAMRHIQEHYGGTATFYLSQAADGAKVLCL
Enzyme 2 Number of Residues 392
Enzyme 2 Molecular Weight 42273
Enzyme 2 Theoretical pI 6.42
Enzyme 2 GO Classification
Function
  • ATP binding
  • adenyl nucleotide binding
  • binding
  • catalytic activity
  • galactokinase activity
  • kinase activity
  • nucleotide binding
  • phosphotransferase activity, alcohol group as acceptor
  • purine nucleotide binding
  • transferase activity
  • transferase activity, transferring phosphorus-containing groups
Process
  • alcohol metabolism
  • carbohydrate metabolism
  • carbohydrate phosphorylation
  • cellular metabolism
  • galactose metabolism
  • hexose metabolism
  • macromolecule metabolism
  • metabolism
  • monosaccharide metabolism
  • phosphate metabolism
  • phosphorus metabolism
  • phosphorylation
  • physiological process
Component
  • cell
  • cytoplasm
  • intracellular
Enzyme 2 General Function Carbohydrate transport and metabolism
Enzyme 2 Specific Function Major enzyme for galactose metabolism
Enzyme 2 Pathways
Enzyme 2 Reactions
  • ATP + D-galactose = ADP + alpha-D-galactose 1-phosphate
Enzyme 2 Pfam Domain Function
Enzyme 2 Signals
  • None
Enzyme 2 Transmembrane Regions
  • None
Enzyme 2 Essentiality Not Available
Enzyme 2 GenBank ID Protein 1002507 Link Image
Enzyme 2 UniProtKB/Swiss-Prot ID P51570 Link Image
Enzyme 2 UniProtKB/Swiss-Prot Entry Name GALK1_HUMAN Link Image
Enzyme 2 PDB ID 1WUU Link Image
Enzyme 2 PDB File Show
Enzyme 2 3D Structure
Enzyme 2 Cellular Location Not Available
Enzyme 2 Gene Sequence >1179 bp 
ATGGCTGCTTTGAGACAGCCCCAGGTCGCGGAGCTGCTGGCCGAGGCCCGGCGAGCCTTC
CGGGAGGAGTTCGGGGCCGAGCCCGAGCTGGCCGTGTCAGCGCCGGGCCGCGTCAACCTC
ATCGGGGAACACACGGACTACAACCAGGGCCTGGTGCTGCCTATGGCTCTGGAGCTCATG
ACGGTGCTGGTGGGCAGCCCCCGCAAGGATGGGCTGGTGTCTCTCCTCACCACCTCTGAG
GGTGCCGATGAGCCCCAGCGGCTGCAGTTTCCACTGCCCACAGCCCAGCGCTCGCTGGAG
CCTGGGACTCCTCGGTGGGCCAACTATGTCAAGGGAGTGATTCAGTACTACCCAGCTGCC
CCCCTCCCTGGCTTCAGTGCAGTGGTGGTCAGCTCAGTGCCCCTGGGGGGTGGCCTGTCC
AGCTCAGCATCCTTGGAAGTGGCCACGTACACCTTCCTCCAGCAGCTCTGTCCAGACTCG
GGCACAATAGCTGCCCGCGCCCAGGTGTGTCAGCAGGCCGAGCACAGCTTCGCAGGGATG
CCCTGTGGCATCATGGACCAGTTCATCTCACTTATGGGACAGAAAGGCCACGCGCTGCTC
ATTGACTGCAGGTCCTTGGAGACCAGCCTGGTGCCACTCTCGGACCCCAAGCTGGCCGTG
CTCATCACCAACTCTAATGTCCGCCACTCCCTGGCCTCCAGCGAGTACCCTGTGCGGCGG
CGCCAATGTGAAGAAGTGGCCCGGGCGCTGGGCAAGGAAAGCCTCCGGGAGGTACAACTG
GAAGAGCTAGAGGCTGCCAGGGACCTGGTGAGCAAAGAGGGCTTCCGGCGGGCCCGGCAC
GTGGTGGGGGAGATTCGGCGCACGGCCCAGGCAGCGGCCGCCCTGAGACGTGGCGACTAC
AGAGCCTTTGGCCGCCTCATGGTGGAGAGCCACCGCTCACTCAGAGACGACTATGAGGTG
AGCTGCCCAGAGCTGGACCAGCTGGTGGAGGCTGCGCTTGCTGTGCCTGGGGTTTATGGC
AGCCGCATGACGGGCGGTGGCTTCGGTGGCTGCACGGTGACACTGCTGGAGGCCTCCGCT
GCTCCCCACGCCATGCGGCACATCCAGGAGCACTACGGCGGGACTGCCACCTTCTACCTC
TCTCAAGCAGCCGATGGAGCCAAGGTGCTGTGCTTGTGA
Enzyme 2 GenBank Gene ID U26401 Link Image
Enzyme 2 GeneCard ID GALK1 Link Image
Enzyme 2 GenAtlas ID GALK1 Link Image
Enzyme 2 HGNC ID HGNC:4118 Link Image
Enzyme 2 Chromosome Location 17
Enzyme 2 Locus 17q24
Enzyme 2 SNPs SNPJam Report Link Image
Enzyme 2 General References
  1. Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M, Bergsma DJ: Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. Nat Genet. 1995 Jul;10(3):307-12. [PubMed Link Image]
  2. Bergsma DJ, Ai Y, Skach WR, Nesburn K, Anoia E, Van Horn S, Stambolian D: Fine structure of the human galactokinase GALK1 gene. Genome Res. 1996 Oct;6(10):980-5. [PubMed Link Image]
  3. Ai Y, Basu M, Bergsma DJ, Stambolian D: Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2. Biochem Biophys Res Commun. 1995 Jul 17;212(2):687-91. [PubMed Link Image]
  4. Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, Jordanova A, Savov A, Yanakiev P, Kremensky I, Radeva B, Hallmayer J, Markov A, Nedkova V, Tournev I, Aneva L, Gitzelmann R: A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Am J Hum Genet. 1999 Nov;65(5):1299-307. [PubMed Link Image]
  5. Okano Y, Asada M, Fujimoto A, Ohtake A, Murayama K, Hsiao KJ, Choeh K, Yang Y, Cao Q, Reichardt JK, Niihira S, Imamura T, Yamano T: A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians. Am J Hum Genet. 2001 Apr;68(4):1036-42. Epub 2001 Feb 23. [PubMed Link Image]
Enzyme 2 Metabolite References Not Available
Enzyme 3 [top]
Enzyme 3 ID 15220
Enzyme 3 Name Galactokinase 2 variant
Enzyme 3 Synonyms Not Available
Enzyme 3 Gene Name Not Available
Enzyme 3 Protein Sequence >Galactokinase 2 variant 
MPVLYDRLLKLKEMFNSKFGSIPKFYVRAPGRVNIIGEHIDYCGYSVLPMAVEQDVLIAV
EPVKTYALQLANTNPLYPDFSTSANNIQIDKTKPLWHNYFLCGLKGIQEHFGLSNLTGMN
CLVDGNIPPSSGLSSSSALVCCAGLVTLTVLGRNLSKVELAEICAKSERYIGTEGGGMDQ
SISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRLAA
KLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEEL
RTQILSPNTQDVLIFKLYQRAKHVYSEAARVLQFKKICEEAPENMVQLLGELMNQSHMSC
RDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYYQR
SDGSLAPEKQSLFATKPGGGALVLLEA
Enzyme 3 Number of Residues 447
Enzyme 3 Molecular Weight 49236
Enzyme 3 Theoretical pI 6.31
Enzyme 3 GO Classification
Function
  • ATP binding
  • adenyl nucleotide binding
  • binding
  • catalytic activity
  • galactokinase activity
  • kinase activity
  • nucleotide binding
  • phosphotransferase activity, alcohol group as acceptor
  • purine nucleotide binding
  • transferase activity
  • transferase activity, transferring phosphorus-containing groups
Process
  • alcohol metabolism
  • carbohydrate metabolism
  • carbohydrate phosphorylation
  • cellular metabolism
  • galactose metabolism
  • hexose metabolism
  • macromolecule metabolism
  • metabolism
  • monosaccharide metabolism
  • phosphate metabolism
  • phosphorus metabolism
  • phosphorylation
  • physiological process
Component
  • cell
  • cytoplasm
  • intracellular
Enzyme 3 General Function Carbohydrate transport and metabolism
Enzyme 3 Specific Function Not Available
Enzyme 3 Pathways Not Available
Enzyme 3 Reactions Not Available
Enzyme 3 Pfam Domain Function
Enzyme 3 Signals
  • None
Enzyme 3 Transmembrane Regions
  • None
Enzyme 3 Essentiality Not Available
Enzyme 3 GenBank ID Protein 33187707 Link Image
Enzyme 3 UniProtKB/Swiss-Prot ID Q7Z4Q4 Link Image
Enzyme 3 UniProtKB/Swiss-Prot Entry Name Q7Z4Q4_HUMAN Link Image
Enzyme 3 PDB ID Not Available
Enzyme 3 Cellular Location Not Available
Enzyme 3 Gene Sequence >1344 bp 
ATGCCCGTCCTATATGACAGGTTACTGAAGCTAAAGGAGATGTTTAACTCCAAGTTTGGA
TCTATTCCCAAGTTTTATGTTCGAGCACCAGGAAGAGTCAACATAATAGGAGAGCATATA
GATTATTGTGGATATTCTGTTCTTCCTATGGCTGTAGAACAAGATGTGCTAATAGCTGTA
GAACCTGTGAAAACGTACGCTCTCCAACTGGCCAATACAAATCCCTTGTATCCGGACTTC
AGTACTAGTGCTAATAACATCCAGATTGATAAAACCAAGCCTTTGTGGCACAACTATTTC
TTATGTGGACTTAAAGGAATTCAGGAACACTTTGGTCTTAGTAACCTGACTGGAATGAAC
TGCCTGGTAGATGGAAATATCCCACCAAGTTCTGGCCTCTCCAGCTCCAGTGCTTTGGTC
TGTTGTGCTGGCTTGGTGACGCTCACAGTGCTGGGAAGGAATCTATCCAAGGTGGAACTT
GCAGAAATCTGTGCCAAGAGTGAGCGTTACATTGGCACTGAAGGAGGAGGCATGGACCAG
TCTATATCATTTCTTGCAGAAGAAGGAACTGCCAAGTTGATAGAATTTAGTCCTCTGAGG
GCAACCGATGTAAAACTCCCAAGTGGAGCAGTGTTTGTGATTGCCAACAGTTGTGTGGAG
ATGAATAAGGCAGCAACTTCCCATTTCAATATCAGGGTGATGGAGTGTCGGCTGGCTGCG
AAGCTCCTGGCTAAATACAAAAGCTTGCAATGGGACAAAGTACTGAGGCTGGAGGAGGTG
CAGGCTAAACTAGGGATTAGTCTAGAAGAAATGCTGTTGGTCACAGAAGATGCCCTTCAT
CCTGAACCCTATAACCCTGAGGAGATCTGCAGGTGTCTGGGAATTAGCCTGGAGGAACTC
CGAACCCAAATCCTGAGTCCAAACACTCAAGATGTGCTCATCTTCAAACTCTATCAGCGG
GCAAAGCATGTGTACAGCGAGGCTGCGCGAGTGCTCCAGTTTAAGAAGATATGTGAAGAA
GCACCTGAAAACATGGTCCAGCTGCTGGGAGAGTTGATGAACCAGAGCCACATGAGCTGC
CGGGACATGTATGAGTGCAGCTGCCCCGAGCTGGATCAGCTGGTGGACATCTGTCGGAAG
TTTGGGGCTCAAGGGTCACGACTTACTGGAGCAGGATGGGGAGGCTGCACAGTATCAATG
GTACCTGCGGACAAGCTGCCCAGCTTTCTAGCAAATGTGCACAAAGCTTATTACCAGAGG
AGTGATGGAAGCTTAGCACCGGAGAAGCAAAGTTTGTTTGCTACCAAACCTGGAGGTGGG
GCTTTGGTTTTGCTTGAGGCCTGA
Enzyme 3 GenBank Gene ID AF461816 Link Image
Enzyme 3 GeneCard ID Q7Z4Q4 Link Image
Enzyme 3 GenAtlas ID Not Available
Enzyme 3 HGNC ID HGNC:4119 Link Image
Enzyme 3 Chromosome Location Not Available
Enzyme 3 Locus Not Available
Enzyme 3 SNPs Not Available
Enzyme 3 General References Not Available
Enzyme 3 Metabolite References Not Available
Enzyme 4 [top]
Enzyme 4 ID 16941
Enzyme 4 Name Galactose-1-phosphate uridylyltransferase
Enzyme 4 Synonyms Not Available
Enzyme 4 Gene Name GALT
Enzyme 4 Protein Sequence >Galactose-1-phosphate uridylyltransferase 
MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQ
LLKTVPRHDPLNPLCPGAIRANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAK
SARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGC
SNPHPHCQVWASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWL
VLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGW
HGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRA
LPEVHYHLGQKDRETATIA
Enzyme 4 Number of Residues 379
Enzyme 4 Molecular Weight 43364
Enzyme 4 Theoretical pI 6.99
Enzyme 4 GO Classification
Function
  • UDP-glucose:hexose-1-phosphate uridylyltransferase activity
  • catalytic activity
  • nucleotidyltransferase activity
  • transferase activity
  • transferase activity, transferring phosphorus-containing groups
Process
  • alcohol metabolism
  • cellular metabolism
  • galactose metabolism
  • hexose metabolism
  • metabolism
  • monosaccharide metabolism
  • physiological process
Component
—
Enzyme 4 General Function Energy production and conversion
Enzyme 4 Specific Function UDP-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate + UDP-galactose
Enzyme 4 Pathways Not Available
Enzyme 4 Reactions Not Available
Enzyme 4 Pfam Domain Function
Enzyme 4 Signals
  • None
Enzyme 4 Transmembrane Regions
  • None
Enzyme 4 Essentiality Not Available
Enzyme 4 GenBank ID Protein Not Available
Enzyme 4 UniProtKB/Swiss-Prot ID Q5VZ81 Link Image
Enzyme 4 UniProtKB/Swiss-Prot Entry Name Q5VZ81_HUMAN Link Image
Enzyme 4 PDB ID Not Available
Enzyme 4 Cellular Location Not Available
Enzyme 4 Gene Sequence Not Available
Enzyme 4 GenBank Gene ID AL162231 Link Image
Enzyme 4 GeneCard ID Q5VZ81 Link Image
Enzyme 4 GenAtlas ID GALT Link Image
Enzyme 4 HGNC ID HGNC:4135 Link Image
Enzyme 4 Chromosome Location Not Available
Enzyme 4 Locus Not Available
Enzyme 4 SNPs SNPJam Report Link Image
Enzyme 4 General References Not Available
Enzyme 4 Metabolite References Not Available