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

Gene ID: 1909, updated on 3-Jun-2018
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; Vega:OTTHUMG00000161354
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
See EDNRA in Genome Data Viewer
Location:
4q31.22-q31.23
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (147480917..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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Mandibulofacial dysostosis with alopecia
MedGen: C4225349 OMIM: 616367 GeneReviews: Not available
Compare labs
Migraine
MedGen: C0149931 OMIM: 157300 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.
NHGRI GWA Catalog
GWAS of dental caries patterns in the permanent dentition.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
NHGRI GWA Catalog

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

  • Calcium signaling pathway, organism-specific biosystem (from KEGG)
    Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Calcium signaling pathway, conserved biosystem (from KEGG)
    Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
    Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
  • EGFR-dependent Endothelin signaling events, organism-specific biosystem (from Pathway Interaction Database)
    EGFR-dependent Endothelin signaling events, organism-specific biosystem
    EGFR-dependent Endothelin signaling events
  • Endothelin Pathways, organism-specific biosystem (from WikiPathways)
    Endothelin Pathways, organism-specific biosystemEndothelin-1 is a bicyclic 21 amino acid peptide, produced primarily in the endothelium. It is a potent stimulus of long-lasting and persistent vasoconstriction. It also has a role as a stimulus of i...
  • Endothelins, organism-specific biosystem (from Pathway Interaction Database)
    Endothelins, organism-specific biosystem
    Endothelins
  • G alpha (q) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (q) signalling events, organism-specific biosystemThe classic signalling route for G alpha (q) is activation of phospholipase C beta thereby triggering phosphoinositide hydrolysis, calcium mobilization and protein kinase C activation. This provides ...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • GPCRs, Class A Rhodopsin-like, organism-specific biosystem (from WikiPathways)
    GPCRs, Class A Rhodopsin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
  • GPCRs, Other, organism-specific biosystem (from WikiPathways)
    GPCRs, Other, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
  • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
    Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Peptide GPCRs, organism-specific biosystem (from WikiPathways)
    Peptide GPCRs, organism-specific biosystem
    Peptide GPCRs
  • Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
    Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
  • Prostaglandin Synthesis and Regulation, organism-specific biosystem (from WikiPathways)
    Prostaglandin Synthesis and Regulation, organism-specific biosystemA prostaglandin is any member of a group of lipid compounds that are derived enzymatically from fatty acids and have important functions in the animal body. Every prostaglandin contains 20 carbon ato...
  • Renin secretion, organism-specific biosystem (from KEGG)
    Renin secretion, organism-specific biosystemThe aspartyl-protease renin is the key regulator of the renin-angiotensin-aldosterone system, which is critically involved in extracellular fluid volume and blood pressure homeostasis of the body. R...
  • Renin secretion, conserved biosystem (from KEGG)
    Renin secretion, conserved biosystemThe aspartyl-protease renin is the key regulator of the renin-angiotensin-aldosterone system, which is critically involved in extracellular fluid volume and blood pressure homeostasis of the body. R...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
    Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
  • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
    Vascular smooth muscle contraction, conserved biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
  • cAMP signaling pathway, organism-specific biosystem (from KEGG)
    cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
  • cAMP signaling pathway, conserved biosystem (from KEGG)
    cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
  • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
    cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
  • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
    cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
Products Interactant Other Gene Complex Source Pubs Description

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 NAS
Non-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
 
glucose transmembrane transport ISS
Inferred from Sequence or Structural Similarity
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
 
Preferred Names
endothelin-1 receptor
Names
G protein-coupled receptor
endothelin receptor subtype A
endothelin-1-specific receptor

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
    5001..69038
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166055.1NP_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, DA183901, 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_001354797.1NP_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_001957.3NP_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, DA183901, DA956937
    Consensus CDS
    CCDS3769.1
    UniProtKB/Swiss-Prot
    P25101
    Related
    ENSP00000315011.5, OTTHUMP00000220090, ENST00000324300.9, OTTHUMT00000364635
    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_045958.1 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, DA183901, DA956937, S63938, S81542
  2. NR_148963.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC093908
  3. NR_148964.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC093908

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    147480917..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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