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EPAS1 endothelial PAS domain protein 1 [ Homo sapiens (human) ]

Gene ID: 2034, updated on 22-May-2013

Summary

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Official Symbol: EPAS1provided by HGNC
Official Full Name: endothelial PAS domain protein 1provided by HGNC
Primary source: HGNC:3374
See related: Ensembl:ENSG00000116016; HPRD:06787; MIM:603349; Vega:OTTHUMG00000128818
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HLF; MOP2; ECYT4; HIF2A; PASD2; bHLHe73
Summary: 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]

Genomic context

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Location :: 2p21-p16

Sequence :: Chromosome: 2; NC_000002.11 (46524541..46613842)

See EPAS1 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Atypical osteoclast HIF-driven metabolic pathway may be an adaptive mechanism to permit rapid bone resorption in the short term while ensuring curtailment of the process in the absence of re-oxygenation.
Title: Differential regulation of HIF-mediated pathways increases mitochondrial metabolism and ATP production in hypoxic osteoclasts.
Blocking of HIF-2alpha prevents the promoting effects of arsenite on the neoplastic transformation, migration, and chromosomal aberrations induced by BaP in HBE cells.
Title: The inhibition of HIF-2α on the ATM/Chk-2 pathway is involved in the promotion effect of arsenite on benzo(a)pyrene-induced cell transformation.
These data support a critical role for CDCP1 as a unique HIF-2alpha target gene involved in the regulation of cancer metastasis.
Title: Identification of CDCP1 as a hypoxia-inducible factor 2α (HIF-2α) target gene that is associated with survival in clear cell renal cell carcinoma patients.
Data gathered from cell lines, tumorigenicity studies, and primary hepatocellular carcinoma samples demonstrate a negative role of HIF-2alpha in tumors, which is mediated by the TFDP3/E2F1 pathway.
Title: Hypoxia inducible factor 2 alpha inhibits hepatocellular carcinoma growth through the transcription factor dimerization partner 3/ E2F transcription factor 1-dependent apoptotic pathway.
findings demonstrate that HIF-2alpha is a major regulator of COX2/mPGES-1/PGE(2) pathway in colon tumors
Title: Hypoxia-inducible factor-2α is essential in activating the COX2/mPGES-1/PGE2 signaling axis in colon cancer.
data in the present study suggest that the accumulations of HIF-1alpha and HIF-2alpha by JNK and ERK are involved in different levels of arsenite-induced biphasic effects
Title: The accumulations of HIF-1α and HIF-2α by JNK and ERK are involved in biphasic effects induced by different levels of arsenite in human bronchial epithelial cells.
HIF-2alpha/mTORC1/SLC7A5 pathway mediates proliferation and tumor promoting properties of HIF-2alpha.
Title: HIF2α acts as an mTORC1 activator through the amino acid carrier SLC7A5.
HIF2alpha is a tumor promoter in cancer cells.
Title: Metabolic reprogramming and two-compartment tumor metabolism: opposing role(s) of HIF1α and HIF2α in tumor-associated fibroblasts and human breast cancer cells.
There is a negative corelation between the expression of HIF-2alpha and OCT-4 and the prognosis of non-small cell lung cancer.
Title: [Correlation between expression of HIF-2α and OCT-4 and prognosis of NSCLC].
USF2 and hypoxia-inducible factor 2alpha (HIF2alpha) cooperatively activate HIF2 target genes during hypoxia.
Title: Upstream stimulatory factor 2 and hypoxia-inducible factor 2α (HIF2α) cooperatively activate HIF2 target genes during hypoxia.

Submit: New GeneRIF Correction See all (175)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3.

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Nef, p27	nef	HIV-1 Nef increases expression of both VEGF and its transcriptional regulator, hypoxia-inducible factor 2alpha (HIF-2alpha), in a Src kinase-and Stat3-dependent manner	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_001421.2	NP_001659.1	ARNT	BIND	PubMed	Arnt interacts with HLF. This interaction was modeled on a demonstrated interaction between human Arnt and mouse HLF.
NP_001421.2		ARNT	BIND	PubMed	HLF interacts with Arnt. This interaction was modeled on a demonstrated interaction between mouse HLF and human Arnt.
NP_001421.2	NP_000542.1	VHL	BIND	PubMed	The von Hippel-Lindau tumor suppressor protein (pVHL) interacts with Hypoxia inducible factor-2-alpha (HIF-2 alpha)
Q99814	P27540	ARNT	HPRD	PubMed
Q99814	O00327	ARNTL	HPRD	PubMed
Q99814	Q8WYA1	ARNTL2	HPRD	PubMed
Q99814	Q9GZT9	EGLN1	HPRD	PubMed
Q99814	Q96KS0	EGLN2	HPRD	PubMed
Q99814	Q9H6Z9	EGLN3	HPRD	PubMed
Q99814	P60228	EIF3E	HPRD	PubMed
Q99814	Q09472	EP300	HPRD	PubMed
Q99814	P61244	MAX	HPRD	PubMed
Q99814	Q15139	PRKD1	HPRD	PubMed
Q99814	P84022	SMAD3	HPRD	PubMed
Q99814	P40337	VHL	HPRD	PubMed
BioGRID:108348	BioGRID:117940	AKAP8L	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:106821	APC	BioGRID	PubMed	Two-hybrid
BioGRID:108348	BioGRID:121559	ARID1B	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:106898	ARNT	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:108348	BioGRID:115244	ARNT2	BioGRID	PubMed	Affinity Capture-MS; Two-hybrid
BioGRID:108348	BioGRID:106899	ARNTL	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:108348	BioGRID:198205	Arnt	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108348	BioGRID:114908	BAG2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:114691	BCL7C	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:116660	CNOT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:117411	CNOT10	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:118938	CNOT7	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:107777	CREBBP	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:107880	CTNNB1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:115532	DCAF7	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:115582	DNAJA2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:111909	DPF2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:124181	DPY30	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:120060	EGLN1	BioGRID	PubMed	Affinity Capture-MS; Reconstituted Complex; Two-hybrid
BioGRID:108348	BioGRID:125184	EGLN2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:125185	EGLN3	BioGRID	PubMed	Affinity Capture-MS; Two-hybrid
BioGRID:108348	BioGRID:108309	ELAVL1	BioGRID	PubMed	Affinity Capture-RNA
BioGRID:108348	BioGRID:108325	EMD	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:108347	EP300	BioGRID	PubMed	Affinity Capture-MS; Reconstituted Complex
BioGRID:108348	BioGRID:108348	EPAS1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:108414	ETS1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108348	BioGRID:108431	EWSR1	BioGRID	PubMed	Two-hybrid
BioGRID:108348	BioGRID:108459	F12	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108348	BioGRID:114739	GTF3C3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:109338	HIF1A	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:109552	HSP90AA1	BioGRID	PubMed	Reconstituted Complex
BioGRID:108348	BioGRID:109540	HSPA4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108348	BioGRID:114090	IKBKAP	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:116667	KDM1A	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:118100	KLHL20	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:108348	BioGRID:110319	MAX	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108348	BioGRID:110340	MCM3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108348	BioGRID:110344	MCM7	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108348	BioGRID:111465	MED1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:123974	MED10	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:134637	MED11	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:115293	MED12	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:114699	MED14	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:119623	MED15	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:115342	MED16	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:114830	MED17	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:120156	MED18	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:114862	MED20	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:112704	MED22	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:114829	MED23	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:115196	MED24	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:123607	MED25	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:114831	MED26	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:114832	MED27	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:120734	MED29	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:118849	MED4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:114833	MED7	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:125219	MED8	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:110372	MEF2C	BioGRID	PubMed	Two-hybrid
BioGRID:108348	BioGRID:110432	MITF	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:108348	BioGRID:116902	NCAPD3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:110815	NEDD8	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108348	BioGRID:111264	PHB	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:116459	PHB2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:111662	PSMB1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:111675	PSMC3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108348	BioGRID:111680	PSMD1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:208024	Ruvbl1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108348	BioGRID:117439	SIN3A	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:110263	SMAD3	BioGRID	PubMed	Co-localization; Two-hybrid
BioGRID:108348	BioGRID:112479	SMARCA2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:112481	SMARCA4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:112482	SMARCB1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:112483	SMARCC1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:112485	SMARCC2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:112546	SOX10	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:108348	BioGRID:112550	SP1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108348	BioGRID:112574	SPP1	BioGRID	PubMed	Two-hybrid
BioGRID:108348	BioGRID:117175	SSBP3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:112653	STAT5A	BioGRID	PubMed	Two-hybrid
BioGRID:108348	BioGRID:115563	STUB1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108348	BioGRID:113188	SUMO1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108348	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108348	BioGRID:112785	TCEB2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:119942	TERF2IP	BioGRID	PubMed	Two-hybrid
BioGRID:108348	BioGRID:112878	TFAP2A	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:108348	BioGRID:119625	TRIM33	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:113269	VHL	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:108348	BioGRID:121227	WRNIP1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:113348	XPO1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108348	BioGRID:119543	YTHDF2	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Adipogenesis, organism-specific biosystem (from WikiPathways)
Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
Cellular response to hypoxia, organism-specific biosystem (from REACTOME)
Cellular response to hypoxia, organism-specific biosystemOxygen plays a central role in the functioning of human cells: it is both essential for normal metabolism and toxic. To begin the annotation of stress responses in Reactome, we have annotated one asp...
Cellular responses to stress, organism-specific biosystem (from REACTOME)
Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
HIF-2-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
HIF-2-alpha transcription factor network, organism-specific biosystem
HIF-2-alpha transcription factor network
Oxygen-dependent Asparagine Hydroxylation of Hypoxia-inducible Factor Alpha, organism-specific biosystem (from REACTOME)
Oxygen-dependent Asparagine Hydroxylation of Hypoxia-inducible Factor Alpha, organism-specific biosystemHIF1AN (FIH, FIH-1) forms a homodimer that hydroxylates an asparagine residue on HIF1A and HIF2A (Hewitson et al. 2002, Lando et al. 2002, Metzen et al. 2003, Lancaster et al. 2004). The hydroxylatio...
Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha, organism-specific biosystem (from REACTOME)
Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha, organism-specific biosystemHIF-alpha subunits, comprising HIF1A (Bruick and McKnight 2001, Ivan et al. 2001, Jaakkola et al. 2001), HIF2A (Percy et al. 2008, Furlow et al. 2009), and HIF3A (Maynard et al. 2003), are hydroxylat...
Pathways in cancer, organism-specific biosystem (from KEGG)
Pathways in cancer, organism-specific biosystem
Pathways in cancer
Regulation of Gene Expression by Hypoxia-inducible Factor, organism-specific biosystem (from REACTOME)
Regulation of Gene Expression by Hypoxia-inducible Factor, organism-specific biosystemHIF-alpha (HIF1A, HIF2A (EPAS1), HIF3A) is translocated to the nucleus, possibly by two pathways: importin 4/7 (Chachami et al. 2009) and importin alpha/beta (Depping et al. 2008). Once in the nucleu...
Regulation of Hypoxia-inducible Factor (HIF) by Oxygen, organism-specific biosystem (from REACTOME)
Regulation of Hypoxia-inducible Factor (HIF) by Oxygen, organism-specific biosystemIn the presence of oxygen members of the transcription factor family HIF-alpha, comprising HIF1A, HIF2A (EPAS1), and HIF3A, are hydroxylated on proline residues by PHD1 (EGLN2), PHD2 (EGLN1), and PHD...
Renal cell carcinoma, organism-specific biosystem (from KEGG)
Renal cell carcinoma, organism-specific biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
Renal cell carcinoma, conserved biosystem (from KEGG)
Renal cell carcinoma, conserved biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
Signaling events mediated by VEGFR1 and VEGFR2, organism-specific biosystem (from Pathway Interaction Database)
Signaling events mediated by VEGFR1 and VEGFR2, organism-specific biosystem
Signaling events mediated by VEGFR1 and VEGFR2

General gene information

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Markers

RH71235 (e-PCR)
- UniSTS:28950

RH120495 (e-PCR)
- UniSTS:133660

D2S288 (e-PCR), detects polymorphism
- UniSTS:57394

RH16555 (e-PCR)
- UniSTS:82783

G20740 (e-PCR)
- UniSTS:59750

A006E13 (e-PCR)
- UniSTS:59751

RH122462 (e-PCR)
- UniSTS:135334

Epas1 (e-PCR), detects polymorphism
- UniSTS:499132

STS-M78744 (e-PCR)
- UniSTS:67522

SHGC-33342 (e-PCR)
- UniSTS:46788

D2S1715E (e-PCR)
- UniSTS:150744

D2S246E (e-PCR)
- UniSTS:473077

SGC34838 (e-PCR)
- UniSTS:31228

Genotypes

See EPAS1 SNP Geneview Report
See EPAS1 SNP Genotype Report
See EPAS1 SNP Variation Viewer Report

Homology

Homologs of the EPAS1 gene: The EPAS1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and mosquito.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA binding	IGI Inferred from Genetic Interaction more info	PubMed
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	IEA Inferred from Electronic Annotation more info
histone acetyltransferase binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
contributes_to sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
signal transducer activity	IEA Inferred from Electronic Annotation more info
transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
angiogenesis	IEA Inferred from Electronic Annotation more info
blood vessel remodeling	IEA Inferred from Electronic Annotation more info
cell maturation	IEA Inferred from Electronic Annotation more info
cellular response to hypoxia	TAS Traceable Author Statement more info
cellular response to stress	TAS Traceable Author Statement more info
embryonic placenta development	IEA Inferred from Electronic Annotation more info
erythrocyte differentiation	IEA Inferred from Electronic Annotation more info
lung development	IEA Inferred from Electronic Annotation more info
mitochondrion organization	IEA Inferred from Electronic Annotation more info
myoblast fate commitment	ISS Inferred from Sequence or Structural Similarity more info
norepinephrine metabolic process	IEA Inferred from Electronic Annotation more info
positive regulation of transcription from RNA polymerase II promoter	IGI Inferred from Genetic Interaction more info	PubMed
regulation of heart rate	IEA Inferred from Electronic Annotation more info
regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS Traceable Author Statement more info
regulation of transcription from RNA polymerase II promoter in response to oxidative stress	IEA Inferred from Electronic Annotation more info
response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
signal transduction	TAS Traceable Author Statement more info	PubMed
surfactant homeostasis	IEA Inferred from Electronic Annotation more info
transcription from RNA polymerase II promoter	TAS Traceable Author Statement more info	PubMed
visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytosol	TAS Traceable Author Statement more info
nucleoplasm	TAS Traceable Author Statement more info
transcription factor complex	IDA Inferred from Direct Assay more info	PubMed
transcription factor complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: endothelial PAS domain-containing protein 1

Names: endothelial PAS domain-containing protein 1; EPAS-1; HIF2-alpha; HIF-2-alpha; HIF-1alpha-like factor; HIF-1-alpha-like factor; member of PAS protein 2; PAS domain-containing protein 2; hypoxia-inducible factor 2 alpha; hypoxia-inducible factor 2-alpha; basic-helix-loop-helix-PAS protein MOP2; class E basic helix-loop-helix protein 73

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016000.1 RefSeqGene

Range

5001..94302

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001430.4 → NP_001421.2 endothelial PAS domain-containing protein 1

Status: REVIEWED

Source sequence(s)

AC016696, AK123845, BC051338, BM671511, CD109908

Consensus CDS

CCDS1825.1

UniProtKB/TrEMBL

B3KW07

UniProtKB/Swiss-Prot

Q99814

Related

ENSP00000263734, OTTHUMP00000159033, ENST00000263734, OTTHUMT00000250752

Conserved Domains (5) summary

cd00083
Location:21 – 68
Blast Score: 106

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

cd00130
Location:241 – 340
Blast Score: 183

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

pfam08778
Location:831 – 870
Blast Score: 185

HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain

pfam08447
Location:254 – 341
Blast Score: 199

PAS_3; PAS fold

pfam11413
Location:516 – 550
Blast Score: 145

HIF-1; Hypoxia-inducible factor-1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p10 Primary Assembly

Range

46524541..46613842

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

46262570..46351445

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018913.1 Alternate CHM1_1.0

Range

46391265..46480567

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01075136.1	None
genomic	ABBA01075137.1	None
genomic	AC016696.8	AAX93237.1
genomic	AC016912.7	AAY14704.1
genomic	AMYH01010313.1 (338132..427434)	None
genomic	CH471053.2	EAX00255.1
mRNA	AF052094.1	None
mRNA	AK123845.1	BAG53969.1
mRNA	BC015869.1	None
mRNA	BC051338.1	AAH51338.1
mRNA	BM671511.1	None
mRNA	CD109908.1	None
mRNA	U51626.1	AAC51212.1
mRNA	U81984.1	AAB41495.1