STRING | IntAct | MINT

Open Targets | OMIM

Catalytic Site Atlas

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Nucleus,Cytoplasm;Isoform 2: Nucleus,Cytoplasm,Nucleus speckle,Mitochondrion;

Acts as a transcriptional regulator in adaptive response to low oxygen tension. Acts as a regulator of hypoxia-inducible gene expression (PubMed:9840812, PubMed:11734856, PubMed:21546903). Plays a role in the development of the cardiorespiratory system (PubMed:18070924).Isoform 1: Acts as positive regulator of hypoxia-inducible gene expression. Associates to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters in a ARNT-dependent manner, and hence also participates in the transcriptional activation of reporter genes driven by HRE (PubMed:9840812).Isoform 2: Attenuates the ability of transcription factor HIF1A, EPAS1 and the HIF1A-ARNT complex to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation. Functions as an inhibitor of angiogenesis in hypoxic cells of the cornea. May act as a tumor suppressor (PubMed:11734856). May also be involved in apoptosis (PubMed:21546903).Isoform 3: Attenuates the ability of transcription factor HIF1A, EPAS1 and the HIF1A-ARNT complex to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation (PubMed:18070924). Plays also a role in the development of the lung and heart during embryonic and neonatal stages (PubMed:18070924).

GO:0005737; GO:0005829; GO:0005739; GO:0016607; GO:0005654; GO:0005634; GO:0005886; GO:0003677; GO:0003700; GO:0000981; GO:0046983; GO:0003713; GO:0003714; GO:0001525; GO:0006915; GO:0045944; GO:0006357; GO:0001666; GO:0006366