• Gene id: 3081

Gene Summary

• Gene Symbol: HGD   Gene   UCSC   Ensembl
• Aliases: AKU, HGO
• Gene name: homogentisate 1,2-dioxygenase
• Alternate names: homogentisate 1,2-dioxygenase, homogentisate oxidase, homogentisate oxygenase, homogentisic acid oxidase, homogentisicase,
• Gene location: 3q13.33 (120682554: 120628167)     Exons: 16     NC_000003.12
• Gene summary(Entrez): This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided
• OMIM: 607474

Protein Summary

• Protein general information: Q93099  
  • Name: Homogentisate 1,2 dioxygenase (EC 1.13.11.5) (Homogentisate oxygenase) (Homogentisic acid oxidase) (Homogentisicase)
  • Length: 445  
  • Mass: 49964
  • Tissue specificity: Highest expression in the prostate, small intestine, colon, kidney and liver.
• Sequence:

  MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFES
  IDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNS
  DGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPR
  DFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTV
  LTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDA
  DCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN

• Structural information:
  • Interpro: IPR005708  IPR014710  IPR011051  
  • PDB: 1EY2 1EYB
  • PDBsum: 1EY2 1EYB
  • STRING: ENSP00000283871
• Other Databases: GeneCards:  HGD  Malacards:  HGD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006559	L-phenylalanine catabolic process	IBA	biological process
GO:0006520	cellular amino acid metabolic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004411	homogentisate 1,2-dioxygenase activity	IBA	molecular function
GO:0006559	L-phenylalanine catabolic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004411	homogentisate 1,2-dioxygenase activity	IEA	molecular function
GO:0006570	tyrosine metabolic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006559	L-phenylalanine catabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006572	tyrosine catabolic process	IEA	biological process
GO:0004411	homogentisate 1,2-dioxygenase activity	TAS	molecular function
GO:0006572	tyrosine catabolic process	TAS	biological process
GO:0006559	L-phenylalanine catabolic process	TAS	biological process
GO:0004411	homogentisate 1,2-dioxygenase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006559	L-phenylalanine catabolic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006520	cellular amino acid metabolic process	IEA	biological process
GO:0006559	L-phenylalanine catabolic process	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00350	Tyrosine metabolism

Diseases

Associated diseases	References
Alkaptonuria	KEGG:H00163
Alkaptonuria	KEGG:H00163
Alkaptonuria	PMID:8782815
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)