Human Gene EDNRA (ENST00000648866.1) Description and Page Index
  Description: Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system. The rank order of binding affinities for ET-A is: ET1 > ET2 >> ET3. (from UniProt P25101)
RefSeq Summary (NM_001957): 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].
Gencode Transcript: ENST00000648866.1
Gencode Gene: ENSG00000151617.17
Transcript (Including UTRs)
   Position: hg38 chr4:147,480,932-147,544,954 Size: 64,023 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg38 chr4:147,532,633-147,542,618 Size: 9,986 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:147,480,932-147,544,954)mRNA (may differ from genome)Protein (202 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCHPRD
LynxMGIneXtProtPubMedReactomeStanford SOURCE
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: EDNRA_HUMAN
DESCRIPTION: RecName: Full=Endothelin-1 receptor; AltName: Full=Endothelin A receptor; Short=ET-A; Short=ETA-R; Short=hET-AR; Flags: Precursor;
FUNCTION: Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system. The rank order of binding affinities for ET-A is: ET1 > ET2 >> ET3.
SUBUNIT: Interacts with HDAC7 and KAT5.
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels.
SIMILARITY: Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRA sub-subfamily.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ednra/";

-  MalaCards Disease Associations
  MalaCards Gene Search: EDNRA
Diseases sorted by gene-association score: mandibulofacial dysostosis with alopecia* (1596), migraine with or without aura 1* (560), scarlet fever (28), staphylococcal scarlet fever (19), alopecia (18), systemic capillary leak syndrome (18), connective tissue disease (17), ritter's disease (14), congenital absence of the vas deferens (13), headache (12), dysostosis (11), perinephritis (11), bullous impetigo (10), pulmonary hypertension (9), portal hypertension (8), koro (7), acth-independent macronodular adrenal hyperplasia (7), migraine with aura (7), rectum adenocarcinoma (6), hepatopulmonary syndrome (6), radiation proctitis (6), toxic shock syndrome (6), congenital diaphragmatic hernia (5), heart disease (5), nephrogenic systemic fibrosis (5), calcific tendinitis (5), patent foramen ovale (4), persistent fetal circulation syndrome (4), congestive heart failure (4), autosomal dominant polycystic kidney disease (3), ovarian cancer, somatic (3), dilated cardiomyopathy (1), hypertension, essential (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.76 RPKM in Cervix - Ectocervix
Total median expression: 286.03 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -416.401190-0.350 Picture PostScript Text
3' UTR -539.102336-0.231 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000276 - 7TM_GPCR_Rhodpsn
IPR000499 - Endthln_rcpt
IPR002175 - ETA_rcpt
IPR017452 - GPCR_Rhodpsn_supfam

Pfam Domains:
PF00001 - 7 transmembrane receptor (rhodopsin family)

ModBase Predicted Comparative 3D Structure on P25101
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004435 phosphatidylinositol phospholipase C activity
GO:0004871 signal transducer activity
GO:0004930 G-protein coupled receptor activity
GO:0004962 endothelin receptor activity
GO:0005515 protein binding

Biological Process:
GO:0001569 branching involved in blood vessel morphogenesis
GO:0001666 response to hypoxia
GO:0001701 in utero embryonic development
GO:0006939 smooth muscle contraction
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007190 activation of adenylate cyclase activity
GO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway
GO:0007202 activation of phospholipase C activity
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007507 heart development
GO:0007585 respiratory gaseous exchange
GO:0008217 regulation of blood pressure
GO:0008283 cell proliferation
GO:0010827 regulation of glucose transport
GO:0014032 neural crest cell development
GO:0014824 artery smooth muscle contraction
GO:0042310 vasoconstriction
GO:0048484 enteric nervous system development
GO:0060322 head development
GO:0086100 endothelin receptor signaling pathway
GO:1904659 glucose transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  KJ896743 - Synthetic construct Homo sapiens clone ccsbBroadEn_06137 EDNRA gene, encodes complete protein.
AK315931 - Homo sapiens cDNA, FLJ78830 complete cds, highly similar to Endothelin-1 receptor precursor.
JD406378 - Sequence 387402 from Patent EP1572962.
D90348 - Homo sapiens mRNA for endothelin-1 receptor, complete cds.
E07649 - cDNA encoding endothelin receptor,ETA-receptor.
S57498 - endothelin ET-A receptor [human, mRNA, 4105 nt].
X61950 - H.sapiens mRNA for endothelin-1 receptor.
JD073261 - Sequence 54285 from Patent EP1572962.
AK312812 - Homo sapiens cDNA, FLJ93242, Homo sapiens endothelin receptor type A (EDNRA), mRNA.
BC022511 - Homo sapiens endothelin receptor type A, mRNA (cDNA clone MGC:26548 IMAGE:4812050), complete cds.
JD175237 - Sequence 156261 from Patent EP1572962.
AK304451 - Homo sapiens cDNA FLJ51623 complete cds, highly similar to Endothelin-1 receptor precursor.
S45956 - endothelin receptor subtype A [human, placenta, mRNA, 3305 nt].
JD520416 - Sequence 501440 from Patent EP1572962.
S67127 - endothelin ETA receptor [human, placenta, mRNA, 1661 nt].
S63938 - A-type endothelin receptor [human, placenta, mRNA, 1868 nt].
JD064371 - Sequence 45395 from Patent EP1572962.
CU692666 - Synthetic construct Homo sapiens gateway clone IMAGE:100018261 5' read EDNRA mRNA.
AB527601 - Synthetic construct DNA, clone: pF1KB6677, Homo sapiens EDNRA gene for endothelin receptor type A, without stop codon, in Flexi system.
DQ892329 - Synthetic construct clone IMAGE:100004959; FLH185346.01X; RZPDo839A03148D endothelin receptor type A (EDNRA) gene, encodes complete protein.
DQ895532 - Synthetic construct Homo sapiens clone IMAGE:100009992; FLH185342.01L; RZPDo839A03147D endothelin receptor type A (EDNRA) gene, encodes complete protein.
AY275462 - Homo sapiens endothelin receptor type A (EDNRA) mRNA, complete cds.
L06622 - Homo sapiens endothelin receptor type A (EDNRA) mRNA, complete cds.
S81539 - endothelin-A receptor=ET-AR [human, lung, mRNA Partial, 1359 nt].
S81542 - endothelin-A receptor delta 4=ET-AR delta 4 {alternatively spliced} [human, lung, mRNA Partial, 1160 nt].
S81545 - endothelin-A receptor delta 3-4=ET-AR delta 3-4 {alternatively spliced} [human, lung, mRNA Partial, 1032 nt].
AF014826 - Homo sapiens endothelin A receptor isoform delta 3 (ETA) mRNA, alternatively spliced, partial cds.
JD174191 - Sequence 155215 from Patent EP1572962.
JD240288 - Sequence 221312 from Patent EP1572962.
JD314116 - Sequence 295140 from Patent EP1572962.
JD299656 - Sequence 280680 from Patent EP1572962.
JD257978 - Sequence 239002 from Patent EP1572962.
JD094269 - Sequence 75293 from Patent EP1572962.
JD284157 - Sequence 265181 from Patent EP1572962.
JD503215 - Sequence 484239 from Patent EP1572962.
JD567099 - Sequence 548123 from Patent EP1572962.
JD112670 - Sequence 93694 from Patent EP1572962.
JD410568 - Sequence 391592 from Patent EP1572962.
JD121428 - Sequence 102452 from Patent EP1572962.
JD493803 - Sequence 474827 from Patent EP1572962.
JD509182 - Sequence 490206 from Patent EP1572962.
JD187486 - Sequence 168510 from Patent EP1572962.
JD059029 - Sequence 40053 from Patent EP1572962.
JD046303 - Sequence 27327 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04020 - Calcium signaling pathway
hsa04080 - Neuroactive ligand-receptor interaction
hsa04270 - Vascular smooth muscle contraction

BioCarta from NCI Cancer Genome Anatomy Project
h_cardiacegfPathway - Role of EGF Receptor Transactivation by GPCRs in Cardiac Hypertrophy

Reactome (by CSHL, EBI, and GO)

Protein P25101 (Reactome details) participates in the following event(s):

R-HSA-388560 Endothelin receptors bind endothelin
R-HSA-749452 The Ligand:GPCR:Gq complex dissociates
R-HSA-749448 Liganded Gq-activating GPCRs bind inactive heterotrimeric Gq
R-HSA-379048 Liganded Gq/11-activating GPCRs act as GEFs for Gq/11
R-HSA-375276 Peptide ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-388396 GPCR downstream signalling
R-HSA-500792 GPCR ligand binding
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B2R723, D3DP03, D90348, EDNRA_HUMAN, ETA, ETRA, O43441, P25101, Q16432, Q16433, Q8TBH2, uc285wxq.1
UCSC ID: uc285wxq.1
RefSeq Accession: NM_001957
Protein: P25101 (aka EDNRA_HUMAN or ET1R_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.