Homo sapiens Gene: HGD
Summary
InnateDB Gene IDBG-51830.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HGD
Gene Name homogentisate 1,2-dioxygenase
Synonyms AKU; HGO;
Species Homo sapiens
Ensembl Gene ENSG00000113924
Encoded Proteins
homogentisate 1,2-dioxygenase
homogentisate 1,2-dioxygenase
homogentisate 1,2-dioxygenase
homogentisate 1,2-dioxygenase
homogentisate 1,2-dioxygenase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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.[provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:120628173-120682571
Strand Reverse strand
Band q13.33
Transcripts
ENST00000283871 ENSP00000283871
ENST00000492108 ENSP00000419838
ENST00000470321
ENST00000475447 ENSP00000417977
ENST00000494453 ENSP00000419163
ENST00000476082 ENSP00000419560
ENST00000485313
ENST00000488183
ENST00000466528
ENST00000480862
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
Cellular Component
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Phenylalanine and tyrosine catabolism pathway
Metabolism of amino acids and derivatives pathway
Metabolism pathway
KEGG
Tyrosine metabolism pathway
INOH
Tyrosine metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.368254
RefSeq NM_000187
HUGO
OMIM
CCDS CCDS3000
HPRD 06315
IMGT
EMBL
GenPept
RNA Seq Atlas