Mus musculus Protein: Hgd
Summary
InnateDB Protein IDBP-537170.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Hgd
Protein Name homogentisate 1, 2-dioxygenase
Synonyms aku; Hgo;
Species Mus musculus
Ensembl Protein ENSMUSP00000125492
InnateDB Gene IDBG-159602 (Hgd)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
Disease Associations Note=Defects in Hgd are the cause of alkaptonuria (aku). Aku is an autosomal recessive error of metabolism which is characterized by an increase in the level of homogentisic acid.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
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:0055114 oxidation-reduction process
Cellular Component
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID MGI:96078
InterPro IPR005708 Homogentisate 1,2-dioxygenase
IPR011051 RmlC-like cupin domain
PFAM PF04209
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O09173
PhosphoSite PhosphoSite-O09173
TrEMBL
UniProt Splice Variant
Entrez Gene 15233
UniGene
RefSeq NP_038575
MGI ID
MGI Symbol Hgd
OMIM
CCDS CCDS49849
HPRD
IMGT
EMBL BC055029 CH466521 U58988
GenPept AAC53224 AAH55029 EDK97961