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Description for Protein HGD

homogentisate 1,2-dioxygenase
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/1)
(platelet: 1; secretome: 1)
Summary:
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. (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
1.13.11.5
KEGG - Orthology:
K00451
KEGG - Pathway(s):
hsa00350; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
HGO; Homogentisicase; Homogentisate oxygenase; Homogentisic acid oxidase
Approved Symbol:
HGD
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 2
Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Alkaptonuria(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06315 Entrez Gene ID: 3081 OMIM ID: 607474 Swissprot Accession: Q93099;