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

Gene ID: 2034, updated on 15-Apr-2019

Summary

Official Symbol
EPAS1provided by HGNC
Official Full Name
endothelial PAS domain protein 1provided by HGNC
Primary source
HGNC:HGNC:3374
See related
Ensembl:ENSG00000116016 MIM:603349
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]
Expression
Broad expression in lung (RPKM 304.3), placenta (RPKM 244.1) and 22 other tissues See more
Orthologs

Genomic context

See EPAS1 in Genome Data Viewer
Location:
2p21
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 protein kinase C epsilon Neighboring gene ribosomal protein L26 pseudogene 15 Neighboring gene uncharacterized LOC101926974 Neighboring gene uncharacterized LOC105374581 Neighboring gene ribosomal protein L36a pseudogene 14 Neighboring gene Sharpr-MPRA regulatory region 1085/2665 Neighboring gene long intergenic non-protein coding RNA 1820 Neighboring gene long intergenic non-protein coding RNA 2583

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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 
embryonic placenta development IEA
Inferred from Electronic Annotation
more info
 
erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
iron ion homeostasis 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 cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein ubiquitination TAS
Traceable Author Statement
more info
 
regulation of heart rate IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 by RNA polymerase II 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
 
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

Preferred Names
endothelial PAS domain-containing protein 1
Names
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
member of PAS protein 2

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001430.5NP_001421.2  endothelial PAS domain-containing protein 1

    See identical proteins and their annotated locations for NP_001421.2

    Status: REVIEWED

    Source sequence(s)
    AC016696, AK123845, BC051338, CD109908
    Consensus CDS
    CCDS1825.1
    UniProtKB/Swiss-Prot
    Q99814
    UniProtKB/TrEMBL
    B3KW07
    Related
    ENSP00000263734.3, ENST00000263734.5
    Conserved Domains (6) summary
    smart00091
    Location:86147
    PAS; PAS domain
    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 ...
    pfam08447
    Location:254341
    PAS_3; PAS fold
    pfam08778
    Location:833869
    HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
    pfam11413
    Location:517549
    HIF-1; Hypoxia-inducible factor-1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011532698.2XP_011531000.1  endothelial PAS domain-containing protein 1 isoform X1

    Conserved Domains (6) summary
    smart00091
    Location:99160
    PAS; PAS domain
    cd00083
    Location:2581
    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:254353
    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 ...
    pfam08447
    Location:267354
    PAS_3; PAS fold
    pfam08778
    Location:846882
    HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
    pfam11413
    Location:530562
    HIF-1; Hypoxia-inducible factor-1
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