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

Gene ID: 2034, updated on 25-Oct-2014
Official Symbol
EPAS1provided by HGNC
Official Full Name
endothelial PAS domain protein 1provided by HGNC
Primary source
HGNC: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]
See EPAS1 in Epigenomics, MapViewer
Location:
2p21-p16
Exon count:
16
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (46297402..46386703)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (46524541..46613842)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101926974 Neighboring gene ribosomal protein L36a pseudogene 14 Neighboring gene uncharacterized LOC101805491 Neighboring gene transmembrane protein 247

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Erythrocytosis, familial, 4
MedGen: C2673187 OMIM: 611783 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

Replication interactions

Interaction Pubs
Knockdown of endothelial PAS domain protein 1 (EPAS1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed
Knockdown of endothelial PAS domain protein 1 (EPAS1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Protein interactions

Protein Gene Interaction Pubs
Nef 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 Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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 IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to hypoxia 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 IDA
Inferred from Direct Assay
more info
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
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 
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

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

  1. NG_016000.1 

    Range
    5001..94302
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to NP_001421.2

    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
    pfam08778
    Location:831870
    HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
    pfam11413
    Location:516550
    HIF-1; Hypoxia-inducible factor-1
    cd00083
    Location:1268
    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:241340
    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 ...
    pfam14598
    Location:244346
    PAS_11; PAS domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    46297402..46386703
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    46262570..46351445
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    46455122..46544416
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)