Entity Details

Primary name HAAO
Entity type gene
Source Source Link

Details

PrimaryID23498
RefseqGene
SymbolHAAO
Name3-hydroxyanthranilate 3,4-dioxygenase
Chromosome2
Location2p21
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-02-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDs3HAO_HUMAN

GO terms

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GOName
GO:0000334 3-hydroxyanthranilate 3,4-dioxygenase activity
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006569 tryptophan catabolic process
GO:0008198 ferrous iron binding
GO:0009055 electron transfer activity
GO:0009435 NAD biosynthetic process
GO:0010043 response to zinc ion
GO:0019805 quinolinate biosynthetic process
GO:0034354 'de novo' NAD biosynthetic process from tryptophan
GO:0043420 anthranilate metabolic process
GO:0046686 response to cadmium ion
GO:0046874 quinolinate metabolic process
GO:0070050 neuron cellular homeostasis

Diseases

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Disease IDSourceNameDescription
617660 OMIMVertebral, cardiac, renal, and limb defects syndrome 1 (VCRL1)An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions

InteractorPartnerSourcesPublicationsLink
HAAOGAD1BioGRID, HPRD, IntAct16189514 25416956 31515488 32296183 details
HAAOARHGDIABioGRID, MINT21900206 details
HAAOTERF2IPbhf-ucl, BioGRID21044950 details
HAAOPOT1bhf-ucl, BioGRID21044950 details
HAAOBAG3BioGRID23824909 details