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This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009]
Q99814 [Direct mapping] Endothelial PAS domain-containing protein 1
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Predicted intracellular proteins Plasma proteins Transcription factors Basic domains Cancer-related genes Candidate cancer biomarkers Disease related genes Protein evidence (Kim et al 2014)
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GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001525 [angiogenesis] GO:0001666 [response to hypoxia] GO:0001892 [embryonic placenta development] GO:0001974 [blood vessel remodeling] GO:0002027 [regulation of heart rate] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005667 [transcription factor complex] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006979 [response to oxidative stress] GO:0007005 [mitochondrion organization] GO:0007165 [signal transduction] GO:0007601 [visual perception] GO:0008134 [transcription factor binding] GO:0016607 [nuclear speck] GO:0030097 [hemopoiesis] GO:0030154 [cell differentiation] GO:0030218 [erythrocyte differentiation] GO:0030324 [lung development] GO:0035019 [somatic stem cell population maintenance] GO:0035035 [histone acetyltransferase binding] GO:0042415 [norepinephrine metabolic process] GO:0043129 [surfactant homeostasis] GO:0043565 [sequence-specific DNA binding] GO:0043619 [regulation of transcription from RNA polymerase II promoter in response to oxidative stress] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046982 [protein heterodimerization activity] GO:0046983 [protein dimerization activity] GO:0048469 [cell maturation] GO:0048625 [myoblast fate commitment] GO:0055072 [iron ion homeostasis] GO:0061418 [regulation of transcription from RNA polymerase II promoter in response to hypoxia] GO:0071456 [cellular response to hypoxia]