Aliases for HIF1AN Gene
External Ids for HIF1AN Gene
Previous GeneCards Identifiers for HIF1AN Gene
GeneCards Summary for HIF1AN Gene
HIF1AN (Hypoxia Inducible Factor 1 Subunit Alpha Inhibitor) is a Protein Coding gene. Diseases associated with HIF1AN include Hypoxia and Familial Isolated Hypoparathyroidism. Among its related pathways are HIF1Alpha Pathway and HIF Repressors. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors. An important paralog of this gene is HSPBAP1.
UniProtKB/Swiss-Prot Summary for HIF1AN Gene
Hydroxylates HIF-1 alpha at 'Asn-803' in the C-terminal transactivation domain (CAD). Functions as an oxygen sensor and, under normoxic conditions, the hydroxylation prevents interaction of HIF-1 with transcriptional coactivators including Cbp/p300-interacting transactivator. Involved in transcriptional repression through interaction with HIF1A, VHL and histone deacetylases. Hydroxylates specific Asn residues within ankyrin repeat domains (ARD) of NFKB1, NFKBIA, NOTCH1, ASB4, PPP1R12A and several other ARD-containing proteins. Also hydroxylates Asp and His residues within ARDs of ANK1 and TNKS2, respectively. Negatively regulates NOTCH1 activity, accelerating myogenic differentiation. Positively regulates ASB4 activity, promoting vascular differentiation.