InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HGD

Summary

InnateDB Protein

IDBP-51832.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HGD

Protein Name

homogentisate 1,2-dioxygenase

Synonyms

AKU; HGO;

Species

Homo sapiens

Ensembl Protein

ENSP00000283871

InnateDB Gene

IDBG-51830 (HGD)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Disease Associations

Alkaptonuria (AKU) [MIM:203500]: An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis. {ECO:0000269PubMed:10205262, ECO:0000269PubMed:10340975, ECO:0000269PubMed:10482952, ECO:0000269PubMed:10594001, ECO:0000269PubMed:8782815, ECO:0000269PubMed:9154114, ECO:0000269PubMed:9529363, ECO:0000269PubMed:9630082}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highest expression in the prostate, small intestine, colon, kidney and liver.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.

Experimentally validated
Total	11 [view]
Protein-Protein	9 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004411	homogentisate 1,2-dioxygenase activity
GO:0046872	metal ion binding

Biological Process

GO:0006520	cellular amino acid metabolic process
GO:0006559	L-phenylalanine catabolic process
GO:0006570	tyrosine metabolic process
GO:0006572	tyrosine catabolic process
GO:0034641	cellular nitrogen compound metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process