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EDNRA endothelin receptor type A [ Homo sapiens (human) ]

Gene ID: 1909, updated on 23-Aug-2020

Summary

Official Symbol
EDNRAprovided by HGNC
Official Full Name
endothelin receptor type Aprovided by HGNC
Primary source
HGNC:HGNC:3179
See related
Ensembl:ENSG00000151617 MIM:131243
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
ETA; ET-A; ETAR; ETRA; MFDA; ETA-R; hET-AR
Summary
This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Expression
Broad expression in endometrium (RPKM 36.3), ovary (RPKM 19.3) and 18 other tissues See more
Orthologs

Genomic context

See EDNRA in Genome Data Viewer
Location:
4q31.22-q31.23
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (147481097..147544954)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (148402069..148466106)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L31 pseudogene 26 Neighboring gene protein arginine methyltransferase 5 pseudogene 1 Neighboring gene general transcription factor IIF subunit 2 pseudogene 1 Neighboring gene uncharacterized LOC105377478 Neighboring gene long intergenic non-protein coding RNA 2507

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.
GeneReviews: Not available
GWAS of dental caries patterns in the permanent dentition.
GeneReviews: Not available
Mandibulofacial dysostosis with alopecia
MedGen: C4225349 OMIM: 616367 GeneReviews: Not available
Compare labs
Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.
GeneReviews: Not available
Migraine
MedGen: C3887485 OMIM: 157300 GeneReviews: Not available
Compare labs
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of endothelin receptor type A (EDNRA) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endothelin receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
phosphatidylinositol phospholipase C activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
activation of adenylate cyclase activity TAS
Traceable Author Statement
more info
PubMed 
activation of phospholipase C activity TAS
Traceable Author Statement
more info
PubMed 
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
artery smooth muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
branching involved in blood vessel morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
endothelin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
enteric nervous system development IEA
Inferred from Electronic Annotation
more info
 
head development IEA
Inferred from Electronic Annotation
more info
 
heart development IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
neural crest cell development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cytosolic calcium ion concentration TAS
Traceable Author Statement
more info
PubMed 
regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
 
regulation of glucose transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
respiratory gaseous exchange ISS
Inferred from Sequence or Structural Similarity
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
smooth muscle contraction NAS
Non-traceable Author Statement
more info
PubMed 
vasoconstriction IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
endothelin-1 receptor
Names
G protein-coupled receptor
endothelin receptor subtype A
endothelin-1-specific receptor

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_013343.1 RefSeqGene

    Range
    5181..69038
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166055.2NP_001159527.1  endothelin-1 receptor isoform b precursor

    See identical proteins and their annotated locations for NP_001159527.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as ET-ARdelta3,4) lacks two alternate exons, resulting in the loss of an in-frame segment of the central coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AC093908, BQ006584, DA956937, S81545
    Consensus CDS
    CCDS54810.1
    UniProtKB/Swiss-Prot
    P25101
    Related
    ENSP00000351359.4, ENST00000358556.8
    Conserved Domains (2) summary
    cd14964
    Location:83107
    7tm_GPCRs; TM helix 1 [structural motif]
    cl28897
    Location:81271
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  2. NM_001354797.2NP_001341726.1  endothelin-1 receptor isoform d precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (d) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC093908
    Conserved Domains (2) summary
    cd15975
    Location:83107
    7tmA_ET-AR; TM helix 1 [structural motif]
    cl28897
    Location:81182
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  3. NM_001957.4NP_001948.1  endothelin-1 receptor isoform a precursor

    See identical proteins and their annotated locations for NP_001948.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as ET-AR) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC093908, AK312812, BQ006584
    Consensus CDS
    CCDS3769.1
    UniProtKB/Swiss-Prot
    P25101
    Related
    ENSP00000498969.1, ENST00000651419.1
    Conserved Domains (1) summary
    cd15975
    Location:81380
    7tmA_ET-AR; endothelin A (or endothelin-1) receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

RNA

  1. NR_045958.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4, also known as ET-ARdelta4) lacks an internal exon in the central region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC093908, BQ006584, DA956937, S63938, S81542
    Related
    ENST00000648866.1
  2. NR_148963.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC093908
  3. NR_148964.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC093908

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    147481097..147544954
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001256283.1: Suppressed sequence

    Description
    NM_001256283.1: This RefSeq was removed because currently there is insufficient support for the protein.
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