EDNRA endothelin receptor type A [Homo sapiens] - Gene

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Summary

Official Symbol: EDNRAprovided by HGNC
Official Full Name: endothelin receptor type Aprovided by HGNC
Primary source: HGNC:3179
See related: Ensembl:ENSG00000151617; HPRD:00571; 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; 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]

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Genomic context

Location :: 4q31.22

Sequence :: Chromosome: 4; NC_000004.11 (148402069..148466106)

See EDNRA in Epigenomics, MapViewer

Chromosome 4 - NC_000004.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

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

Renal medullary endothelin-1/endothelin receptor second messenger signaling regulates sodium/water balance via control of natriuresis and renin-angiotensin system; both endothelin 1 receptor and endothelin 2 receptor are involved. [REVIEW]
Title: New concepts in endothelin control of sodium balance.
four TRPC isoforms, TRPC3, TRPC5, TRPC6, and TRPC7, can function as endothelin type A receptor-operated Ca2+ channels.
Title: Function and regulation of endothelin type A receptor-operated transient receptor potential canonical channels.
Results demonstrated significant association of IA with rs6841581 on chromosome 4q31.23, immediately 5' of the endothelin receptor type A with P = 2.2 x 10(-8) [odds ratio (OR) = 1.22, PPA = 0.986].
Title: Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk.
Single nucleotide polymorphisms in EDNRA gene is associated with breast cancer.
Title: Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility.
ET1 induced calcium responses are only mediated by endothelin A receptors, possibly due to sub-threshold endothelin B receptor expression.
Title: ET-1 induced Elevation of intracellular calcium in clonal neuronal and embryonic kidney cells involves endogenous endothelin-A receptors linked to phospholipase C through Gα(q/11).
Data show that blockade of ET(A)R-driven EMT can overcome chemoresistance and inhibit tumor progression, improving the outcome of EOC patients' treatment.
Title: Acquisition of chemoresistance and EMT phenotype is linked with activation of the endothelin A receptor pathway in ovarian carcinoma cells.
Data show that EDNRA/H323H polymorphism is a novel and independent prognostic marker, which may help identify patient subgroups at high risk for poor disease outcome.
Title: Polymorphisms in the endothelin-1 and endothelin a receptor genes and survival in patients with locoregionally advanced nasopharyngeal carcinoma.
the role of EDNRA -231 G>A and APOE HhaI polymorphism for a possible association with migraine
Title: Vascular gene polymorphisms (EDNRA -231 G>A and APOE HhaI) and risk for migraine.
Increased expression of ET-1, ETRA/B, and activation of signaling pathways were observed in the pulmonary arteries and arterioles of irreversible pulmonary arterial hypertension patients associated with congenital heart defects.
Title: Activation of endothelin-1 receptor signaling pathways is associated with neointima formation, neoangiogenesis and irreversible pulmonary artery hypertension in patients with congenital heart disease.
Study of a novel enhanced green fluorescent protein (EGFP) reporter (Ednra) transgenic mouse line enables visualization of placode-derived inner ear sensory cell lineage.
Title: Establishment of mice expressing EGFP in the placode-derived inner ear sensory cell lineage and FACS-array analysis focused on the regional specificity of the otocyst.

Submit: New GeneRIF Correction See all (84)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
P25101	P05305	EDN1	HPRD	PubMed
P25101	P14138	EDN3	HPRD	PubMed
P25101	P29992	GNA11	HPRD	PubMed
P25101	P04899	GNAI2	HPRD	PubMed
P25101	P43250	GRK6	HPRD	PubMed
P25101	Q92993	KAT5	HPRD	PubMed
BioGRID:108231	BioGRID:116183	COPS5	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:108231	BioGRID:109029	GNA11	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108231	BioGRID:119613	HDAC7	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:108231	BioGRID:115779	KAT5	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:108231	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
G-protein coupled receptor activity	IEA Inferred from Electronic Annotation more info
endothelin receptor activity	NAS Non-traceable Author Statement more info	PubMed
phosphatidylinositol phospholipase C activity	TAS Traceable Author Statement more info	PubMed
receptor activity	IEA Inferred from Electronic Annotation more info
signal transducer activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
G-protein coupled receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
Rho protein signal transduction	IEA Inferred from Electronic Annotation 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
activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	IEA Inferred from Electronic Annotation more info
aging	IEA Inferred from Electronic Annotation more info
artery smooth muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
cell proliferation	NAS Non-traceable Author Statement more info	PubMed
cellular response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
elevation of cytosolic calcium ion concentration	TAS Traceable Author Statement more info	PubMed
elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger	IEA Inferred from Electronic Annotation more info
fibroblast proliferation	IEA Inferred from Electronic Annotation more info
glomerular filtration	IEA Inferred from Electronic Annotation more info
glucose 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
histamine secretion	IEA Inferred from Electronic Annotation more info
in utero embryonic development	IEA Inferred from Electronic Annotation more info
maternal process involved in parturition	IEA Inferred from Electronic Annotation more info
negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
negative regulation of cAMP biosynthetic process	IEA Inferred from Electronic Annotation more info
neural crest cell development	IEA Inferred from Electronic Annotation more info
patterning of blood vessels	IEA Inferred from Electronic Annotation more info
penile erection	IEA Inferred from Electronic Annotation more info
positive regulation of ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
positive regulation of calcium ion transport	IEA Inferred from Electronic Annotation more info
positive regulation of cell proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
positive regulation of kidney development	IEA Inferred from Electronic Annotation more info
positive regulation of neutrophil chemotaxis	IEA Inferred from Electronic Annotation more info
positive regulation of odontogenesis	IEA Inferred from Electronic Annotation more info
positive regulation of protein phosphorylation	IEA Inferred from Electronic Annotation more info
positive regulation of release of sequestered calcium ion into cytosol	IEA Inferred from Electronic Annotation more info
regulation of epithelial cell proliferation	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
response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
response to morphine	IEA Inferred from Electronic Annotation more info
response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
sensory perception of pain	IEA Inferred from Electronic Annotation more info
signal transduction	TAS Traceable Author Statement more info	PubMed
smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
smooth muscle contraction	NAS Non-traceable Author Statement more info	PubMed
specification of segmental identity, mandibular segment	IEA Inferred from Electronic Annotation more info
vasoconstriction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
T-tubule	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
membrane	NAS Non-traceable Author Statement more info
membrane raft	IEA Inferred from Electronic Annotation more info
nuclear membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: endothelin-1 receptor

Names: endothelin-1 receptor; G protein-coupled receptor; endothelin receptor subtype A; endothelin-1-specific receptor

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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

NG_013343.1 RefSeqGene

Range

5001..69038

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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, ENST00000358556

Conserved Domains (2) summary

PHA02638
Location:90 – 156
Blast Score: 89

PHA02638; CC chemokine receptor-like protein; Provisional

pfam00001
Location:149 – 258
Blast Score: 141

7tm_1; 7 transmembrane receptor (rhodopsin family)
NM_001256283.1 → NP_001243212.1 endothelin-1 receptor isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks a portion of the 5' UTR and 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a.

Source sequence(s)

AC093908, AK315931, BQ006584, DA183901

UniProtKB/TrEMBL

B7Z9G6

UniProtKB/TrEMBL

E7ER36

Conserved Domains (1) summary

pfam00001
Location:33 – 142
Blast Score: 144

7tm_1; 7 transmembrane receptor (rhodopsin family)
NM_001957.3 → NP_001948.1 endothelin-1 receptor isoform a precursor

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, OTTHUMP00000220090, ENST00000324300, OTTHUMT00000364635

Conserved Domains (1) summary

pfam00001
Location:104 – 367
Blast Score: 320

7tm_1; 7 transmembrane receptor (rhodopsin family)

RNA

NR_045958.1 RNA Sequence

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

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000004.11 Reference GRCh37.p5 Primary Assembly

Range

148402069..148466106

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000136.1 Alternate HuRef

Range

144129326..144193179

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC093908.3 (31855..95835)	None
genomic	AY422989.1	AAQ87880.1
genomic	CH471056.2	EAX05017.1
		EAX05018.1
		EAX05019.1
		EAX05020.1
		EAX05021.1
genomic	D11151.2	BAA01920.1
genomic	S55772.1	AAB25212.1
mRNA	AF014826.1	AAB94859.1
mRNA	AK304451.1	BAG65268.1
mRNA	AK312812.1	BAG35670.1
mRNA	AK315931.1	BAH14302.1
mRNA	AY275462.1	AAP32294.1
mRNA	BC022511.1	AAH22511.1
mRNA	BQ006584.1	None
mRNA	CD723797.1	None
mRNA	D90348.1	BAA14359.1
mRNA	DA183901.1	None
mRNA	DA775295.1	None
mRNA	DA956937.1	None
mRNA	L06622.1	AAA58447.1
mRNA	S45956.1	AAB23644.1
mRNA	S57498.1	AAB25530.2
mRNA	S63938.1	AAB20278.1
mRNA	S67127.1	AAB20407.1
mRNA	S81539.1	AAB36325.1
mRNA	S81542.1	AAB36326.1
mRNA	S81545.1	AAB36327.1
mRNA	X61950.1	CAA43953.1
other-genetic	DQ892329.2	ABM83255.1
other-genetic	DQ895532.2	ABM86458.1