UniProtKB - P25101 (EDNRA_HUMAN)
Protein
Endothelin-1 receptor
Gene
EDNRA
Organism
Homo sapiens (Human)
Status
Functioni
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.
GO - Molecular functioni
- endothelin receptor activity Source: UniProtKB
- phosphatidylinositol phospholipase C activity Source: ProtInc
GO - Biological processi
- activation of adenylate cyclase activity Source: ProtInc
- activation of phospholipase C activity Source: ProtInc
- adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway Source: Ensembl
- artery smooth muscle contraction Source: BHF-UCL
- branching involved in blood vessel morphogenesis Source: Ensembl
- cell population proliferation Source: ProtInc
- enteric nervous system development Source: InterPro
- G protein-coupled receptor signaling pathway Source: Reactome
- head development Source: Ensembl
- heart development Source: Ensembl
- in utero embryonic development Source: Ensembl
- neural crest cell development Source: Ensembl
- positive regulation of cytosolic calcium ion concentration Source: ProtInc
- regulation of blood pressure Source: InterPro
- regulation of glucose transmembrane transport Source: Ensembl
- respiratory gaseous exchange by respiratory system Source: UniProtKB
- response to hypoxia Source: Ensembl
- signal transduction Source: ProtInc
- smooth muscle contraction Source: ProtInc
- vasoconstriction Source: BHF-UCL
Keywordsi
Molecular function | G-protein coupled receptor, Receptor, Transducer |
Enzyme and pathway databases
PathwayCommonsi | P25101 |
Reactomei | R-HSA-375276, Peptide ligand-binding receptors R-HSA-416476, G alpha (q) signalling events |
SIGNORi | P25101 |
Names & Taxonomyi
Protein namesi | Recommended name: Endothelin-1 receptorCuratedAlternative name(s): Endothelin receptor type AImported Short name: ET-A Short name: ETA-R Short name: hET-AR |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3179, EDNRA |
MIMi | 131243, gene |
neXtProti | NX_P25101 |
VEuPathDBi | HostDB:ENSG00000151617.15 |
Subcellular locationi
Plasma membrane
Plasma Membrane
- integral component of plasma membrane Source: ProtInc
- plasma membrane Source: Reactome
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 21 – 80 | ExtracellularSequence analysisAdd BLAST | 60 | |
Transmembranei | 81 – 102 | Helical; Name=1Sequence analysisAdd BLAST | 22 | |
Topological domaini | 103 – 112 | CytoplasmicSequence analysis | 10 | |
Transmembranei | 113 – 132 | Helical; Name=2Sequence analysisAdd BLAST | 20 | |
Topological domaini | 133 – 159 | ExtracellularSequence analysisAdd BLAST | 27 | |
Transmembranei | 160 – 181 | Helical; Name=3Sequence analysisAdd BLAST | 22 | |
Topological domaini | 182 – 205 | CytoplasmicSequence analysisAdd BLAST | 24 | |
Transmembranei | 206 – 229 | Helical; Name=4Sequence analysisAdd BLAST | 24 | |
Topological domaini | 230 – 256 | ExtracellularSequence analysisAdd BLAST | 27 | |
Transmembranei | 257 – 278 | Helical; Name=5Sequence analysisAdd BLAST | 22 | |
Topological domaini | 279 – 306 | CytoplasmicSequence analysisAdd BLAST | 28 | |
Transmembranei | 307 – 328 | Helical; Name=6Sequence analysisAdd BLAST | 22 | |
Topological domaini | 329 – 347 | ExtracellularSequence analysisAdd BLAST | 19 | |
Transmembranei | 348 – 372 | Helical; Name=7Sequence analysisAdd BLAST | 25 | |
Topological domaini | 373 – 427 | CytoplasmicSequence analysisAdd BLAST | 55 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Mandibulofacial dysostosis with alopecia (MFDA)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of mandibulofacial dysostosis, a disorder characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids. MFDA features include maxillary dysmorphism with dysplastic zygomatic arch, hypoplastic mandible, scalp alopecia, scant eyebrows and eyelashes, severe hypoplasia or aplasia of eyelids, small cupped dysplastic ears, conductive hearing loss, cleft palate, dental anomalies, micrognathia, and limited jaw mobility.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073788 | 129 | Y → F in MFDA. 1 PublicationCorresponds to variant dbSNP:rs786205230EnsemblClinVar. | 1 | |
Natural variantiVAR_073789 | 303 | E → K in MFDA. 1 PublicationCorresponds to variant dbSNP:rs876657388EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 1909 |
MalaCardsi | EDNRA |
MIMi | 616367, phenotype |
OpenTargetsi | ENSG00000151617 |
Orphaneti | 443995, Mandibulofacial dysostosis with alopecia |
PharmGKBi | PA27617 |
Miscellaneous databases
Pharosi | P25101, Tclin |
Chemistry databases
ChEMBLi | CHEMBL252 |
DrugBanki | DB04674, 2-HYDROXY-3,5-DIIODOBENZOIC ACID DB00945, Acetylsalicylic acid DB05367, Actelion-1 DB06403, Ambrisentan DB06199, Atrasentan DB00559, Bosentan DB06677, Clazosentan DB04883, Darusentan DB06460, Enrasentan DB08932, Macitentan DB06268, Sitaxentan DB12548, Sparsentan DB05290, SPP 301 DB06558, Tezosentan |
DrugCentrali | P25101 |
GuidetoPHARMACOLOGYi | 219 |
Genetic variation databases
BioMutai | EDNRA |
DMDMi | 119606 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 20 | Sequence analysisAdd BLAST | 20 | |
ChainiPRO_0000012721 | 21 – 427 | Endothelin-1 receptorAdd BLAST | 407 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 29 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 62 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 158 ↔ 239 | PROSITE-ProRule annotation | ||
Modified residuei | 425 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
jPOSTi | P25101 |
MassIVEi | P25101 |
PaxDbi | P25101 |
PeptideAtlasi | P25101 |
PRIDEi | P25101 |
ProteomicsDBi | 17708 54256 [P25101-1] 54257 [P25101-2] 54258 [P25101-3] 54259 [P25101-4] |
PTM databases
GlyGeni | P25101, 2 sites |
iPTMneti | P25101 |
PhosphoSitePlusi | P25101 |
SwissPalmi | P25101 |
Expressioni
Tissue specificityi
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.2 Publications
Gene expression databases
Bgeei | ENSG00000151617, Expressed in uterine cervix and 216 other tissues |
Genevisiblei | P25101, HS |
Organism-specific databases
HPAi | ENSG00000151617, Tissue enhanced (cervix, uterine, seminal vesicle) |
Interactioni
Subunit structurei
Interacts with HDAC7 and KAT5.
1 PublicationBinary interactionsi
Hide detailsP25101
With | #Exp. | IntAct |
---|---|---|
ARRB1 [P49407] | 3 | EBI-6624559,EBI-743313 |
ARRB2 [P32121] | 2 | EBI-6624559,EBI-714559 |
EDN1 [P05305] | 2 | EBI-6624559,EBI-715181 |
Protein-protein interaction databases
BioGRIDi | 108231, 21 interactors |
CORUMi | P25101 |
DIPi | DIP-48718N |
IntActi | P25101, 13 interactors |
STRINGi | 9606.ENSP00000315011 |
Chemistry databases
BindingDBi | P25101 |
Miscellaneous databases
RNActi | P25101, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRA sub-subfamily.PROSITE-ProRule annotation
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3656, Eukaryota |
GeneTreei | ENSGT01020000230470 |
HOGENOMi | CLU_096205_1_0_1 |
InParanoidi | P25101 |
OMAi | CCCCHQS |
OrthoDBi | 876925at2759 |
PhylomeDBi | P25101 |
TreeFami | TF331292 |
Family and domain databases
InterProi | View protein in InterPro IPR000499, Endthln_rcpt IPR002175, ETA_rcpt IPR000276, GPCR_Rhodpsn IPR017452, GPCR_Rhodpsn_7TM |
Pfami | View protein in Pfam PF00001, 7tm_1, 1 hit |
PRINTSi | PR00570, ENDOTHELINAR PR00366, ENDOTHELINR PR00237, GPCRRHODOPSN |
PROSITEi | View protein in PROSITE PS00237, G_PROTEIN_RECEP_F1_1, 1 hit PS50262, G_PROTEIN_RECEP_F1_2, 1 hit |
s (5)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: P25101-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
METLCLRASF WLALVGCVIS DNPERYSTNL SNHVDDFTTF RGTELSFLVT
60 70 80 90 100
THQPTNLVLP SNGSMHNYCP QQTKITSAFK YINTVISCTI FIVGMVGNAT
110 120 130 140 150
LLRIIYQNKC MRNGPNALIA SLALGDLIYV VIDLPINVFK LLAGRWPFDH
160 170 180 190 200
NDFGVFLCKL FPFLQKSSVG ITVLNLCALS VDRYRAVASW SRVQGIGIPL
210 220 230 240 250
VTAIEIVSIW ILSFILAIPE AIGFVMVPFE YRGEQHKTCM LNATSKFMEF
260 270 280 290 300
YQDVKDWWLF GFYFCMPLVC TAIFYTLMTC EMLNRRNGSL RIALSEHLKQ
310 320 330 340 350
RREVAKTVFC LVVIFALCWF PLHLSRILKK TVYNEMDKNR CELLSFLLLM
360 370 380 390 400
DYIGINLATM NSCINPIALY FVSKKFKNCF QSCLCCCCYQ SKSLMTSVPM
410 420
NGTSIQWKNH DQNNHNTDRS SHKDSMN
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 110 | C → Y in AAB23644 (PubMed:1415318).Curated | 1 | |
Sequence conflicti | 115 | P → H in AAH22511 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 207 | V → A in AAA58447 (PubMed:8440682).Curated | 1 | |
Sequence conflicti | 232 | R → K in BAH14302 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 234 | E → G in AAA58447 (PubMed:8440682).Curated | 1 | |
Sequence conflicti | 280 | C → G in AAA58447 (PubMed:8440682).Curated | 1 | |
Sequence conflicti | 300 | Q → H in BAG65268 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 322 | L → V in AAH22511 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 345 | S → G in BAG65268 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 409 | N → D in AAH22511 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073788 | 129 | Y → F in MFDA. 1 PublicationCorresponds to variant dbSNP:rs786205230EnsemblClinVar. | 1 | |
Natural variantiVAR_035758 | 136 | I → L in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_073789 | 303 | E → K in MFDA. 1 PublicationCorresponds to variant dbSNP:rs876657388EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045578 | 1 – 225 | Missing in isoform 5. 1 PublicationAdd BLAST | 225 | |
Alternative sequenceiVSP_011061 | 141 – 249 | Missing in isoform 4. 1 PublicationAdd BLAST | 109 | |
Alternative sequenceiVSP_011059 | 141 – 161 | LLAGR…LCKLF → VQSSCLLESCSGNWDSFGNC H in isoform 2. 1 PublicationAdd BLAST | 21 | |
Alternative sequenceiVSP_011060 | 162 – 427 | Missing in isoform 2. 1 PublicationAdd BLAST | 266 | |
Alternative sequenceiVSP_011062 | 183 – 187 | RYRAV → SSTKM in isoform 3. 1 Publication | 5 | |
Alternative sequenceiVSP_011063 | 188 – 427 | Missing in isoform 3. 1 PublicationAdd BLAST | 240 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | S63938 mRNA Translation: AAB20278.1 S67127 mRNA Translation: AAB20407.1 X61950 mRNA Translation: CAA43953.1 D90348 mRNA Translation: BAA14359.1 S57498 mRNA Translation: AAB25530.2 L06622 mRNA Translation: AAA58447.1 D11151 Genomic DNA Translation: BAA01920.1 S45956 mRNA Translation: AAB23644.1 S81539 mRNA Translation: AAB36325.1 S81542 mRNA Translation: AAB36326.1 S81545 mRNA Translation: AAB36327.1 AY275462 mRNA Translation: AAP32294.1 AY422989 Genomic DNA Translation: AAQ87880.1 AK304451 mRNA Translation: BAG65268.1 AK312812 mRNA Translation: BAG35670.1 AK315931 mRNA Translation: BAH14302.1 AC093908 Genomic DNA No translation available. CH471056 Genomic DNA Translation: EAX05019.1 CH471056 Genomic DNA Translation: EAX05021.1 BC022511 mRNA Translation: AAH22511.1 S55772 Genomic DNA Translation: AAB25212.1 AF014826 mRNA Translation: AAB94859.1 |
CCDSi | CCDS3769.1 [P25101-1] CCDS54810.1 [P25101-4] |
PIRi | A44158 |
RefSeqi | NP_001159527.1, NM_001166055.1 [P25101-4] NP_001243212.1, NM_001256283.1 NP_001948.1, NM_001957.3 [P25101-1] |
Genome annotation databases
Ensembli | ENST00000324300; ENSP00000315011; ENSG00000151617 [P25101-1] ENST00000358556; ENSP00000351359; ENSG00000151617 [P25101-4] ENST00000506066; ENSP00000425281; ENSG00000151617 [P25101-4] ENST00000510697; ENSP00000427259; ENSG00000151617 [P25101-3] ENST00000511804; ENSP00000425354; ENSG00000151617 [P25101-5] ENST00000648866; ENSP00000496976; ENSG00000151617 [P25101-5] ENST00000651419; ENSP00000498969; ENSG00000151617 [P25101-1] |
GeneIDi | 1909 |
KEGGi | hsa:1909 |
UCSCi | uc003iky.4, human [P25101-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
NIEHS-SNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | S63938 mRNA Translation: AAB20278.1 S67127 mRNA Translation: AAB20407.1 X61950 mRNA Translation: CAA43953.1 D90348 mRNA Translation: BAA14359.1 S57498 mRNA Translation: AAB25530.2 L06622 mRNA Translation: AAA58447.1 D11151 Genomic DNA Translation: BAA01920.1 S45956 mRNA Translation: AAB23644.1 S81539 mRNA Translation: AAB36325.1 S81542 mRNA Translation: AAB36326.1 S81545 mRNA Translation: AAB36327.1 AY275462 mRNA Translation: AAP32294.1 AY422989 Genomic DNA Translation: AAQ87880.1 AK304451 mRNA Translation: BAG65268.1 AK312812 mRNA Translation: BAG35670.1 AK315931 mRNA Translation: BAH14302.1 AC093908 Genomic DNA No translation available. CH471056 Genomic DNA Translation: EAX05019.1 CH471056 Genomic DNA Translation: EAX05021.1 BC022511 mRNA Translation: AAH22511.1 S55772 Genomic DNA Translation: AAB25212.1 AF014826 mRNA Translation: AAB94859.1 |
CCDSi | CCDS3769.1 [P25101-1] CCDS54810.1 [P25101-4] |
PIRi | A44158 |
RefSeqi | NP_001159527.1, NM_001166055.1 [P25101-4] NP_001243212.1, NM_001256283.1 NP_001948.1, NM_001957.3 [P25101-1] |
3D structure databases
SMRi | P25101 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 108231, 21 interactors |
CORUMi | P25101 |
DIPi | DIP-48718N |
IntActi | P25101, 13 interactors |
STRINGi | 9606.ENSP00000315011 |
Chemistry databases
BindingDBi | P25101 |
ChEMBLi | CHEMBL252 |
DrugBanki | DB04674, 2-HYDROXY-3,5-DIIODOBENZOIC ACID DB00945, Acetylsalicylic acid DB05367, Actelion-1 DB06403, Ambrisentan DB06199, Atrasentan DB00559, Bosentan DB06677, Clazosentan DB04883, Darusentan DB06460, Enrasentan DB08932, Macitentan DB06268, Sitaxentan DB12548, Sparsentan DB05290, SPP 301 DB06558, Tezosentan |
DrugCentrali | P25101 |
GuidetoPHARMACOLOGYi | 219 |
Protein family/group databases
GPCRDBi | Search... |
PTM databases
GlyGeni | P25101, 2 sites |
iPTMneti | P25101 |
PhosphoSitePlusi | P25101 |
SwissPalmi | P25101 |
Genetic variation databases
BioMutai | EDNRA |
DMDMi | 119606 |
Proteomic databases
jPOSTi | P25101 |
MassIVEi | P25101 |
PaxDbi | P25101 |
PeptideAtlasi | P25101 |
PRIDEi | P25101 |
ProteomicsDBi | 17708 54256 [P25101-1] 54257 [P25101-2] 54258 [P25101-3] 54259 [P25101-4] |
Protocols and materials databases
Antibodypediai | 2942, 341 antibodies |
DNASUi | 1909 |
Genome annotation databases
Organism-specific databases
CTDi | 1909 |
DisGeNETi | 1909 |
GeneCardsi | EDNRA |
HGNCi | HGNC:3179, EDNRA |
HPAi | ENSG00000151617, Tissue enhanced (cervix, uterine, seminal vesicle) |
MalaCardsi | EDNRA |
MIMi | 131243, gene 616367, phenotype |
neXtProti | NX_P25101 |
OpenTargetsi | ENSG00000151617 |
Orphaneti | 443995, Mandibulofacial dysostosis with alopecia |
PharmGKBi | PA27617 |
VEuPathDBi | HostDB:ENSG00000151617.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3656, Eukaryota |
GeneTreei | ENSGT01020000230470 |
HOGENOMi | CLU_096205_1_0_1 |
InParanoidi | P25101 |
OMAi | CCCCHQS |
OrthoDBi | 876925at2759 |
PhylomeDBi | P25101 |
TreeFami | TF331292 |
Enzyme and pathway databases
PathwayCommonsi | P25101 |
Reactomei | R-HSA-375276, Peptide ligand-binding receptors R-HSA-416476, G alpha (q) signalling events |
SIGNORi | P25101 |
Miscellaneous databases
BioGRID-ORCSi | 1909, 3 hits in 990 CRISPR screens |
ChiTaRSi | EDNRA, human |
GeneWikii | Endothelin_receptor_type_A |
GenomeRNAii | 1909 |
Pharosi | P25101, Tclin |
PROi | PR:P25101 |
RNActi | P25101, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000151617, Expressed in uterine cervix and 216 other tissues |
Genevisiblei | P25101, HS |
Family and domain databases
InterProi | View protein in InterPro IPR000499, Endthln_rcpt IPR002175, ETA_rcpt IPR000276, GPCR_Rhodpsn IPR017452, GPCR_Rhodpsn_7TM |
Pfami | View protein in Pfam PF00001, 7tm_1, 1 hit |
PRINTSi | PR00570, ENDOTHELINAR PR00366, ENDOTHELINR PR00237, GPCRRHODOPSN |
PROSITEi | View protein in PROSITE PS00237, G_PROTEIN_RECEP_F1_1, 1 hit PS50262, G_PROTEIN_RECEP_F1_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | EDNRA_HUMAN | |
Accessioni | P25101Primary (citable) accession number: P25101 Secondary accession number(s): B2R723 Q8TBH2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 1, 1992 |
Last sequence update: | May 1, 1992 | |
Last modified: | April 7, 2021 | |
This is version 210 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- 7-transmembrane G-linked receptors
List of 7-transmembrane G-linked receptor entries - Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families