MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP000959

Record overview

MGPD IDMGP000959
Gene ID2034
SpeciesHomo sapiens (Human)
Gene Nameendothelial PAS domain protein 1
Gene Symbol EPAS1
SynonymsHLF; MOP2; ECYT4; HIF2A; PASD2; bHLHe73;
Alternate namesendothelial PAS domain-containing protein 1; EPAS-1; HIF-1-alpha-like factor; HIF-1alpha-like factor; HIF-2-alpha; HIF2-alpha; PAS domain-containing protein 2; basic-helix-loop-helix-PAS protein MOP2; class E basic helix-loop-helix protein 73; hypoxia-inducible factor 2 alpha; hypoxia-inducible factor 2-alpha; member of PAS protein 2;
Chromosome2
Map Location2p21-p16
SummaryThis 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]
OrthologsView orthologs and multiple alignments for EPAS1

Proteins

endothelial PAS domain-containing protein 1
Refseq ID:NP_001421
Protein GI:40254439
UniProt ID:Q99814
mRNA ID:NM_001430
Length:870
RefSeq Status:
MTADKEKKRSSSERRKEKSRDAARCRRSKETEVFYELAHELPLPHSVSSHLDKASIMRLAISFLRTHKLLSSVCSENESEAEADQQMDNLYLKALEGFIA
VVTQDGDMIFLSENISKFMGLTQVELTGHSIFDFTHPCDHEEIRENLSLKNGSGFGKKSKDMSTERDFFMRMKCTVTNRGRTVNLKSATWKVLHCTGQVK
VYNNCPPHNSLCGYKEPLLSCLIIMCEPIQHPSHMDIPLDSKTFLSRHSMDMKFTYCDDRITELIGYHPEELLGRSAYEFYHALDSENMTKSHQNLCTKG
QVVSGQYRMLAKHGGYVWLETQGTVIYNPRNLQPQCIMCVNYVLSEIEKNDVVFSMDQTESLFKPHLMAMNSIFDSSGKGAVSEKSNFLFTKLKEEPEEL
AQLAPTPGDAIISLDFGNQNFEESSAYGKAILPPSQPWATELRSHSTQSEAGSLPAFTVPQAAAPGSTTPSATSSSSSCSTPNSPEDYYTSLDNDLKIEV
IEKLFAMDTEAKDQCSTQTDFNELDLETLAPYIPMDGEDFQLSPICPEERLLAENPQSTPQHCFSAMTNIFQPLAPVAPHSPFLLDKFQQQLESKKTEPE
HRPMSSIFFDAGSKASLPPCCGQASTPLSSMGGRSNTQWPPDPPLHFGPTKWAVGDQRTEFLGAAPLGPPVSPPHVSTFKTRSAKGFGARGPDVLSPAMV
ALSNKLKLKRQLEYEEQAFQDLSGGDPPGGSTSHLMWKRMKNLRGGSCPLMPDKPLSANVPNDKFTQNPMRGLGHPLRHLPLPQPPSAISPGENSKSRFP
PQCYATQYQDYSLSSAHKVSGMASRLLGPSFESYLLPELTRYDCEVNVPVLGSSTLLQGGDLLRALDQAT
 
  logo