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Human Metabolome Database Version 2.5

 

Showing metabocard for Homogentisic acid (HMDB00130)

Legend: metabolite field enzyme field

Version 2.5
Creation Date 2005-11-16 15:48:42
Update Date 2009-06-19 19:36:30
Accession Number HMDB00130
Secondary Accession Numbers Not Available
Common Name Homogentisic acid
Description An intermediate of the metabolic breakdown of tyrosine and phenylalanine; it occurs in the urine in cases of alkaptonuria. (OMIN 203500) Homogentisic acid is the primary precursor of melanin synthesis in Vibrio cholerae.
Synonyms
  1. (2,5-dihydroxyphenyl)-Acetate
  2. (2,5-dihydroxyphenyl)-Acetic acid
  3. 2,5-Dihydroxy-a-toluate
  4. 2,5-Dihydroxy-a-toluic acid
  5. 2,5-Dihydroxy-alpha-toluate
  6. 2,5-Dihydroxy-alpha-toluic acid
  7. 2,5-Dihydroxy-benzeneacetate
  8. 2,5-Dihydroxy-benzeneacetic acid
  9. 2,5-Dihydroxyphenylacetate
  10. 2,5-Dihydroxyphenylacetic acid
  11. Alcapton
  12. Homogentisate
  13. Homogentisate acid
  14. Homogentisinate
  15. Homogentisinic acid;Melanic acid.
Chemical IUPAC Name 2-(2,5-dihydroxyphenyl)acetic acid
Chemical Formula C8H8O4
Chemical Structure Structure
Chemical Taxonomy
Kingdom
  • Organic
Super Class
  • Alcohols
Class
  • Hydroxy Acids
Sub Class
  • Miscellaneous catecholamines
Family
  • Mammalian Metabolite
Species
  • phenol or hydroxyhetarene
  • carboxylic acid
  • aromatic compound
Biofunction
  • Component of Phenylalanine metabolism
  • Component of Tyrosine metabolism
Application
—
Source
  • Endogenous
Average Molecular Weight 168.147
Monoisotopic Molecular Weight 168.042252
Isomeric SMILES OC(=O)CC1=C(O)C=CC(O)=C1
Canonical SMILES OC(=O)CC1=C(O)C=CC(O)=C1
KEGG Compound ID C00544 Link Image
BioCyc ID Not Available
BiGG ID 1485308 Link Image
Wikipedia Link Homogentisic acid Link Image
NuGOwiki Link HMDB00130 Link Image
Metagene Link HMDB00130 Link Image
METLIN ID 331 Link Image
PubChem Compound 780 Link Image
PubChem Substance 2799 Link Image
ChEBI ID 5755 Link Image
CAS Registry Number 451-13-8
InChI Identifier InChI=1/C8H8O4/c9-6-1-2-7(10)5(3-6)4-8(11)12/h1-3,9-10H,4H2,(H,11,12)
Synthesis Reference Not Available
Melting Point (Experimental) 153 oC
Experimental Water Solubility 850 mg/mL at 25 oC [BEILSTEIN] Source: PhysProp
Predicted Water Solubility 8.10 mg/mL [Predicted by ALOGPS] Calculated using ALOGPS
Physiological Charge -1
State Solid
Experimental LogP/Hydrophobicity 0.86 [SANGSTER (1994)] Source: PhysProp
Predicted LogP/Hydrophobicity 0.81 [Predicted by ALOGPS]; 0.887 [Predicted by PubChem via XLOGP] Calculated using ALOGPS
Material Safety Data Sheet (MSDS)
MOL File Show
SDF File Show
PDB File Show
2D Structure
3D Structure
Experimental PDB ID Not Available
Experimental 1H NMR Spectrum Download Spectrum
Download FID (Bruker)
Show Experimental Conditions Link Image
Experimental 13C NMR Spectrum Not Available
Experimental 13C HSQC Spectrum Download Spectrum
Download FID (Bruker)
Show Experimental Conditions Link Image
Predicted 1H NMR Spectrum Show Image
Show Peaklist
Predicted 13C NMR Spectrum Show Image
Show Peaklist
Mass Spectrum
Low Energy
Download File
Show Experimental Conditions Link Image
Medium Energy
Download File
Show Experimental Conditions Link Image
High Energy
Download File
Show Experimental Conditions Link Image
Simplified TOCSY Spectrum Show Image
Show Peaklist
BMRB Spectrum Show Image
Show Peaklist
Cellular Location
  • Cytoplasm
Biofluid Location
  • Blood
  • Urine
Tissue Location
Tissue References
Cartilage —
Connective Tissue —
Kidney —
Concentrations (Normal)
Biofluid Blood
Value 0.043 (0.014 - 0.071) uM
Age Adult:>18 yrs old
Sex Both
Patient information Normal
Comments Not Available
References
  • Deutsch JC, Santhosh-Kumar CR: Quantitation of homogentisic acid in normal human plasma. J Chromatogr B Biomed Appl. 1996 Feb 23;677(1):147-51. [PubMed Link Image]
Biofluid Urine
Value 0.04 +/- 0.17 umol/mmol creatinine
Age Infant:0-1 yr old
Sex Both
Patient information Normal
Comments Not Available
References
  • Shoemaker JD, Elliott WH: Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease. J Chromatogr. 1991 Jan 2;562(1-2):125-38. [PubMed Link Image]
Biofluid Urine
Value 1.0 (0.0-2.0) umol/mmol creatinine
Age Adult:>18 yrs old
Sex Both
Patient information Normal
Comments Not Available
References
Concentrations (Abnormal)
Biofluid Blood
Value 35.5 (33.0 - 38.0) uM
Age Adult:>18 yrs old
Sex Both
Condition Alkaptonuria
Comments Not Available
References
  • Bory C, Boulieu R, Chantin C, Mathieu M: Diagnosis of alcaptonuria: rapid analysis of homogentisic acid by HPLC. Clin Chim Acta. 1990 Jul;189(1):7-11. [PubMed Link Image]
Biofluid Urine
Value 1819 (1134 - 2504) umol/mmol creatinine
Age Adult:>18 yrs old
Sex Both
Condition Alkaptonuria
Comments Not Available
References
  • Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA: Natural history of alkaptonuria. N Engl J Med. 2002 Dec 26;347(26):2111-21. [PubMed Link Image]
Biofluid Urine
Value > 2780 umol/mmol creatinine
Age Adult:>18 yrs old
Sex Both
Condition Alkaptonuria
Comments Not Available
References
  • La Du BN Jr: Are we ready to try to cure alkaptonuria? Am J Hum Genet. 1998 Apr;62(4):765-7. [PubMed Link Image]
Biofluid Urine
Value 3000.0 (1000.0-5000.0) umol/mmol creatinine
Age Adult:>18 yrs old
Sex Both
Comments Not Available
References
Associated Disorders
Condition References
Alkaptonuria
OMIM ID
Pathways
Name SMPDB Link KEGG Link
Phenylalanine and Tyrosine Metabolism SMP00008 Link Image map00360 Link Image
Tyrosine Metabolism SMP00006 Link Image map00350 Link Image
General References
  1. Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA: Natural history of alkaptonuria. N Engl J Med. 2002 Dec 26;347(26):2111-21. [PubMed Link Image]
  2. La Du BN Jr: Are we ready to try to cure alkaptonuria? Am J Hum Genet. 1998 Apr;62(4):765-7. [PubMed Link Image]
  3. Concepcion Masip T, Banares Baudet F, Traba ML, Rodriguez de Minon Cifuentes JL: [Alkaptonuria, prostatic calculi, and ectopic ureter] Actas Urol Esp. 1997 Feb;21(2):167-70. [PubMed Link Image]
  4. Ehongo A, Schrooyen M, Pereleux A: [Important bilateral corneal astigmatism in a case of ocular ochronosis] Bull Soc Belge Ophtalmol. 2005;(295):17-21. [PubMed Link Image]
  5. Deutsch JC, Santhosh-Kumar CR: Quantitation of homogentisic acid in normal human plasma. J Chromatogr B Biomed Appl. 1996 Feb 23;677(1):147-51. [PubMed Link Image]
  6. Shoemaker JD, Elliott WH: Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease. J Chromatogr. 1991 Jan 2;562(1-2):125-38. [PubMed Link Image]
  7. Janocha S, Wolz W, Srsen S, Srsnova K, Montagutelli X, Guenet JL, Grimm T, Kress W, Muller CR: The human gene for alkaptonuria (AKU) maps to chromosome 3q. Genomics. 1994 Jan 1;19(1):5-8. [PubMed Link Image]
  8. de Haas V, Carbasius Weber EC, de Klerk JB, Bakker HD, Smit GP, Huijbers WA, Duran M, Poll-The BT: The success of dietary protein restriction in alkaptonuria patients is age-dependent. J Inherit Metab Dis. 1998 Dec;21(8):791-8. [PubMed Link Image]
  9. Hegedus ZL, Nayak U: Homogentisic acid and structurally related compounds as intermediates in plasma soluble melanin formation and in tissue toxicities. Arch Int Physiol Biochim Biophys. 1994 May-Jun;102(3):175-81. [PubMed Link Image]
  10. Venkataseshan VS, Chandra B, Graziano V, Steinlauf P, Marquet E, Irmiere V, Needle MA: Alkaptonuria and renal failure: a case report and review of the literature. Mod Pathol. 1992 Jul;5(4):464-71. [PubMed Link Image]
  11. Bory C, Boulieu R, Chantin C, Mathieu M: Diagnosis of alcaptonuria: rapid analysis of homogentisic acid by HPLC. Clin Chim Acta. 1990 Jul;189(1):7-11. [PubMed Link Image]
  12. Wikipedia Link Image
Metabolic Enzymes
  1. Homogentisate 1,2-dioxygenase
  2. cDNA FLJ76150, highly similar to Homo sapiens 4-hydroxyphenylpyruvate dioxygenase
Enzyme 1 [top]
Enzyme 1 ID 6123
Enzyme 1 Name Homogentisate 1,2-dioxygenase
Enzyme 1 Synonyms
  1. Homogentisicase
  2. Homogentisate oxygenase
  3. Homogentisic acid oxidase
Enzyme 1 Gene Name HGD
Enzyme 1 Protein Sequence >Homogentisate 1,2-dioxygenase 
MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSW
LYRILPSVSHKPFESIDEGHVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLC
GAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEIC
VIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVP
GGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTV
LTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPG
GGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLD
ENYHKCWEPLKSHFTPNSRNPAEPN
Enzyme 1 Number of Residues 445
Enzyme 1 Molecular Weight 49973
Enzyme 1 Theoretical pI 7.00
Enzyme 1 GO Classification
Function
  • catalytic activity
  • homogentisate 1,2-dioxygenase activity
  • oxidoreductase activity
  • oxidoreductase activity, acting on single donors with incorporation of molecular oxygen
  • oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
Process
  • L-phenylalanine catabolism
  • L-phenylalanine metabolism
  • amino acid and derivative metabolism
  • amino acid metabolism
  • aromatic amino acid family metabolism
  • cellular metabolism
  • metabolism
  • physiological process
  • tyrosine metabolism
Component
—
Enzyme 1 General Function Secondary metabolites biosynthesis, transport and catabolism
Enzyme 1 Specific Function Homogentisate + O(2) = 4-maleylacetoacetate
Enzyme 1 Pathways
Enzyme 1 Reactions
  • homogentisate + O2 = 4-maleylacetoacetate
Enzyme 1 Pfam Domain Function
Enzyme 1 Signals
  • None
Enzyme 1 Transmembrane Regions
  • None
Enzyme 1 Essentiality Not Available
Enzyme 1 GenBank ID Protein 1616743 Link Image
Enzyme 1 UniProtKB/Swiss-Prot ID Q93099 Link Image
Enzyme 1 UniProtKB/Swiss-Prot Entry Name HGD_HUMAN Link Image
Enzyme 1 PDB ID 1EYB Link Image
Enzyme 1 PDB File Show
Enzyme 1 3D Structure
Enzyme 1 Cellular Location Not Available
Enzyme 1 Gene Sequence >1338 bp 
ATGGCTGAGTTAAAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGC
TGCCCAGGTTCCCTGCCAGAAGGACAGAATAATCCTCAGGTCTGCCCCTACAATCTCTAT
GCTGAGCAGCTCTCAGGATCGGCTTTCACTTGTCCACGGAGCACCAATAAGAGAAGCTGG
CTGTATAGGATTCTACCTTCAGTTTCTCACAAGCCCTTTGAATCCATTGACGAAGGCCAT
GTCACTCACAACTGGGATGAAGTTGATCCTGATCCTAACCAGCTTAGATGGAAACCATTT
GAGATTCCAAAAGCATCTCAGAAGAAAGTAGACTTTGTGAGTGGCCTGCATACCTTGTGT
GGAGCTGGAGACATAAAGTCTAACAATGGGCTTGCTATCCACATTTTCCTCTGCAATACC
TCCATGGAGAACAGATGCTTTTACAATTCAGATGGGGACTTCTTGATTGTTCCGCAGAAA
GGGAACCTTCTCATTTACACCGAGTTTGGCAAGATGCTTGTACAGCCCAATGAGATCTGC
GTCATTCAGAGAGGAATGCGGTTCAGCATAGATGTCTTTGAGGAGACCAGGGGCTACATC
TTGGAGGTCTATGGTGTCCACTTTGAGTTACCTGACCTTGGACCAATTGGGGCCAATGGC
TTGGCCAATCCTCGTGATTTCTTGATACCCATTGCCTGGTATGAGGATCGCCAAGTACCA
GGTGGTTACACGGTCATTAATAAATACCAGGGCAAGCTGTTTGCTGCCAAACAGGATGTC
TCCCCGTTCAATGTTGTGGCCTGGCACGGGAATTATACACCCTACAAGTACAACCTGAAG
AATTTCATGGTTATCAACTCAGTGGCCTTTGACCATGCAGACCCATCCATTTTCACAGTA
TTGACTGCTAAGTCTGTCCGCCCTGGAGTGGCCATTGCTGATTTTGTCATCTTCCCACCT
CGATGGGGGGTTGCTGATAAGACCTTCAGGCCTCCTTATTACCATAGGAACTGCATGAGT
GAGTTCATGGGACTCATCCGAGGTCACTATGAGGCAAAGCAAGGTGGGTTCCTGCCAGGG
GGAGGGAGTCTACACAGCACAATGACCCCCCATGGACCTGATGCTGACTGCTTTGAGAAG
GCCAGCAAGGTCAAGCTGGCACCTGAGAGGATTGCCGATGGCACCATGGCATTTATGTTT
GAATCATCTTTAAGTCTGGCGGTCACAAAGTGGGGACTCAAGGCCTCCAGGTGTTTGGAT
GAGAACTACCACAAGTGCTGGGAGCCACTCAAGAGCCACTTCACTCCCAACTCCAGGAAC
CCAGCAGAACCTAATTGA
Enzyme 1 GenBank Gene ID U63008 Link Image
Enzyme 1 GeneCard ID HGD Link Image
Enzyme 1 GenAtlas ID HGD Link Image
Enzyme 1 HGNC ID HGNC:4892 Link Image
Enzyme 1 Chromosome Location 3
Enzyme 1 Locus 3q13.33
Enzyme 1 SNPs SNPJam Report Link Image
Enzyme 1 General References
  1. Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, Renedo M, Fernandez-Ruiz E, Penalva MA, Rodriguez de Cordoba S: The molecular basis of alkaptonuria. Nat Genet. 1996 Sep;14(1):19-24. [PubMed Link Image]
  2. Granadino B, Beltran-Valero de Bernabe D, Fernandez-Canon JM, Penalva MA, Rodriguez de Cordoba S: The human homogentisate 1,2-dioxygenase (HGO) gene. Genomics. 1997 Jul 15;43(2):115-22. [PubMed Link Image]
  3. Titus GP, Mueller HA, Burgner J, Rodriguez De Cordoba S, Penalva MA, Timm DE: Crystal structure of human homogentisate dioxygenase. Nat Struct Biol. 2000 Jul;7(7):542-6. [PubMed Link Image]
  4. Gehrig A, Schmidt SR, Muller CR, Srsen S, Srsnova K, Kress W: Molecular defects in alkaptonuria. Cytogenet Cell Genet. 1997;76(1-2):14-6. [PubMed Link Image]
  5. Beltran-Valero de Bernabe D, Granadino B, Chiarelli I, Porfirio B, Mayatepek E, Aquaron R, Moore MM, Festen JJ, Sanmarti R, Penalva MA, de Cordoba SR: Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. Am J Hum Genet. 1998 Apr;62(4):776-84. [PubMed Link Image]
  6. Higashino K, Liu W, Ohkawa T, Yamamoto T, Fukui K, Ohno M, Imanishi H, Iwasaki A, Amuro Y, Hada T: A novel point mutation associated with alkaptonuria. Clin Genet. 1998 Mar;53(3):228-9. [PubMed Link Image]
  7. Beltran-Valero de Bernabe D, Jimenez FJ, Aquaron R, Rodriguez de Cordoba S: Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO). Am J Hum Genet. 1999 May;64(5):1316-22. [PubMed Link Image]
  8. Felbor U, Mutsch Y, Grehn F, Muller CR, Kress W: Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. Br J Ophthalmol. 1999 Jun;83(6):680-3. [PubMed Link Image]
  9. Muller CR, Fregin A, Srsen S, Srsnova K, Halliger-Keller B, Felbor U, Seemanova E, Kress W: Allelic heterogeneity of alkaptonuria in Central Europe. Eur J Hum Genet. 1999 Sep;7(6):645-51. [PubMed Link Image]
  10. Beltran-Valero de Bernabe D, Peterson P, Luopajarvi K, Matintalo P, Alho A, Konttinen Y, Krohn K, Rodriguez de Cordoba S, Ranki A: Mutational analysis of the HGO gene in Finnish alkaptonuria patients. J Med Genet. 1999 Dec;36(12):922-3. [PubMed Link Image]
Enzyme 1 Metabolite References Not Available
Enzyme 2 [top]
Enzyme 2 ID 13081
Enzyme 2 Name cDNA FLJ76150, highly similar to Homo sapiens 4-hydroxyphenylpyruvate dioxygenase
Enzyme 2 Synonyms
  1. HPD, mRNA
  2. 4-hydroxyphenylpyruvate dioxygenase, isoform CRA_b
Enzyme 2 Gene Name HPD
Enzyme 2 Protein Sequence >cDNA FLJ76150, highly similar to Homo sapiens 4-hydroxyphenylpyruvate dioxygenase 
MTTYSDKGAKPERGRFLHFHSVTFWVGNAKQAASFYCSKMGFEPLAYRGLETGSREVVSH
VIKQGKIVFVLSSALNPWNKEMGDHLVKHGDGVKDIAFEVEDCDYIVQKARERGAKIMRE
PWVEQDKFGKVKFAVLQTYGDTTHTLVEKMNYIGQFLPGYEAPAFMDPLLPKLPKCSLEM
IDHIVGNQPDQEMVSASEWYLKNLQFHRFWSVDDTQVHTEYSSLRSIVVANYEESIKMPI
NEPAPGKKKSQIQEYVDYNGGAGVQHIALKTEDIITAIRHLRERGLEFLSVPSTYYKQLR
EKLKTAKIKVKENIDALEELKILVDYDEKGYLLQIFTKPVQDRPTLFLEVIQRHNHQGFG
AGNFNSLFKAFEEEQNLRGNLTNMETNGVVPGM
Enzyme 2 Number of Residues 393
Enzyme 2 Molecular Weight 44935
Enzyme 2 Theoretical pI 7.01
Enzyme 2 GO Classification Not Available
Enzyme 2 General Function Amino acid transport and metabolism
Enzyme 2 Specific Function Not Available
Enzyme 2 Pathways Not Available
Enzyme 2 Reactions Not Available
Enzyme 2 Pfam Domain Function Not Available
Enzyme 2 Signals
  • None
Enzyme 2 Transmembrane Regions
  • None
Enzyme 2 Essentiality Not Available
Enzyme 2 GenBank ID Protein 158255088 Link Image
Enzyme 2 UniProtKB/Swiss-Prot ID A8K461 Link Image
Enzyme 2 UniProtKB/Swiss-Prot Entry Name A8K461_HUMAN Link Image
Enzyme 2 PDB ID 1SQI Link Image
Enzyme 2 PDB File Show
Enzyme 2 3D Structure
Enzyme 2 Cellular Location Not Available
Enzyme 2 Gene Sequence Not Available
Enzyme 2 GenBank Gene ID AK290826 Link Image
Enzyme 2 GeneCard ID A8K461 Link Image
Enzyme 2 GenAtlas ID Not Available
Enzyme 2 HGNC ID Not Available
Enzyme 2 Chromosome Location Not Available
Enzyme 2 Locus Not Available
Enzyme 2 SNPs SNPJam Report Link Image
Enzyme 2 General References Not Available
Enzyme 2 Metabolite References Not Available