EPAS1
entrez
2034
canonical
uniprot
Q99814
canonical
ensembl
ENSG00000116016
resolver
ensp
ENSP00000263734
resolver
enst
ENST00000263734
resolver
genesymbol
EPAS1
resolver
genesymbol_syn
BHLHE73
resolver
genesymbol_syn
HIF2A
resolver
genesymbol_syn
MOP2
resolver
genesymbol_syn
PASD2
resolver
hgnc
HGNC:3374
resolver
uniprot
B3KW07
resolver
uniprot
Q86VA2
resolver
uniprot
Q99630
resolver
uniprot_entry
B3KW07_HUMAN
resolver
uniprot_entry
EPAS1_HUMAN
resolver
uniprot_sec
Q86VA2
resolver
uniprot_sec
Q99630
resolver
amino_acid_sequence
MTADKEKKRSSSERRKEKSRDAARCRRSKETEVFYELAHELPLPHSVSSHLDKASIMRLAISFLRTHKLLSSVCSENESEAEADQQMDNLYLKALEGFIAVVTQDGDMIFLSENISKFMGLTQVELTGHSIFDFTHPCDHEEIRENLSLKNGSGFGKKSKDMSTERDFFMRMKCTVTNRGRTVNLKSATWKVLHCTGQVKVYNNCPPHNSLCGYKEPLLSCLIIMCEPIQHPSHMDIPLDSKTFLSRHSMDMKFTYCDDRITELIGYHPEELLGRSAYEFYHALDSENMTKSHQNLCTKGQVVSGQYRMLAKHGGYVWLETQGTVIYNPRNLQPQCIMCVNYVLSEIEKNDVVFSMDQTESLFKPHLMAMNSIFDSSGKGAVSEKSNFLFTKLKEEPEELAQLAPTPGDAIISLDFGNQNFEESSAYGKAILPPSQPWATELRSHSTQSEAGSLPAFTVPQAAAPGSTTPSATSSSSSCSTPNSPEDYYTSLDNDLKIEVIEKLFAMDTEAKDQCSTQTDFNELDLETLAPYIPMDGEDFQLSPICPEERLLAENPQSTPQHCFSAMTNIFQPLAPVAPHSPFLLDKFQQQLESKKTEPEHRPMSSIFFDAGSKASLPPCCGQASTPLSSMGGRSNTQWPPDPPLHFGPTKWAVGDQRTEFLGAAPLGPPVSPPHVSTFKTRSAKGFGARGPDVLSPAMVALSNKLKLKRQLEYEEQAFQDLSGGDPPGGSTSHLMWKRMKNLRGGSCPLMPDKPLSANVPNDKFTQNPMRGLGHPLRHLPLPQPPSAISPGENSKSRFPPQCYATQYQDYSLSSAHKVSGMASRLLGPSFESYLLPELTRYDCEVNVPVLGSSTLLQGGDLLRALDQAT
uniprot
proteins
disease_involvement
DISEASE: Erythrocytosis, familial, 4 (ECYT4) [MIM:611783]: An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit, and normal platelet and leukocyte counts. {ECO:0000269|PubMed:18184961, ECO:0000269|PubMed:18378852, ECO:0000269|PubMed:19208626, ECO:0000269|PubMed:22367913}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor involved in the induction of oxygen regulated genes. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation requires recruitment of transcriptional coactivators such as CREBBP and probably EP300. Interaction with redox regulatory protein APEX1 seems to activate CTAD (By similarity). {ECO:0000250, ECO:0000250|UniProtKB:P97481}.
uniprot
proteins
mass_dalton
96459
uniprot
proteins
mutagenesis
MUTAGEN 844; /note="C->S: Abolishes hypoxia-inducible transcriptional activation of ctaD."; /evidence="ECO:0000269|PubMed:10202154
uniprot
proteins
post_translational_modification
PTM: In normoxia, is probably hydroxylated on Pro-405 and Pro-531 by EGLN1/PHD1, EGLN2/PHD2 and/or EGLN3/PHD3. The hydroxylated prolines promote interaction with VHL, initiating rapid ubiquitination and subsequent proteasomal degradation. Under hypoxia, proline hydroxylation is impaired and ubiquitination is attenuated, resulting in stabilization (By similarity). {ECO:0000250}.; PTM: In normoxia, is hydroxylated on Asn-847 by HIF1AN thus probably abrogating interaction with CREBBP and EP300 and preventing transcriptional activation. {ECO:0000250}.; PTM: Phosphorylated on multiple sites in the CTAD. {ECO:0000250}.; PTM: The iron and 2-oxoglutarate dependent 3-hydroxylation of asparagine is (S) stereospecific within HIF CTAD domains. {ECO:0000250}.
uniprot
proteins
pubmed
10202154
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16181639
uniprot
proteins
pubmed
18184961
uniprot
proteins
pubmed
18378852
uniprot
proteins
pubmed
19208626
uniprot
proteins
pubmed
22367913
uniprot
proteins
pubmed
25043035
uniprot
proteins
pubmed
31189709
uniprot
proteins
pubmed
34050022
uniprot
proteins
pubmed
36417539
uniprot
proteins
pubmed
36930720
uniprot
proteins
pubmed
9000051
uniprot
proteins
pubmed
9079689
uniprot
proteins
sequence_length
870
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P97481, ECO:0000255|PROSITE-ProRule:PRU00981}. Nucleus speckle {ECO:0000250|UniProtKB:P97481}. Note=Colocalizes with HIF3A in the nucleus and speckles. {ECO:0000250|UniProtKB:P97481}.
uniprot
proteins