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UniProtKB - P24530 (EDNRB_HUMAN)

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Protein

Endothelin receptor type B

Gene

EDNRB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.1 Publication

GO - Molecular functioni

  • endothelin receptor activity Source: BHF-UCL
  • peptide hormone binding Source: BHF-UCL
  • type 1 angiotensin receptor binding Source: Ensembl
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionG-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

ReactomeiR-HSA-375276 Peptide ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events
SignaLinkiP24530
SIGNORiP24530

Names & Taxonomyi

Protein namesi
Recommended name:
Endothelin receptor type BCurated
Short name:
ET-B
Short name:
ET-BR
Alternative name(s):
Endothelin receptor non-selective type
Gene namesi
Name:EDNRBImported
Synonyms:ETRB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000136160.14
HGNCiHGNC:3180 EDNRB
MIMi131244 gene
neXtProtiNX_P24530

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini27 – 101ExtracellularSequence analysisAdd BLAST75
Transmembranei102 – 126Helical; Name=1Sequence analysisAdd BLAST25
Topological domaini127 – 137CytoplasmicSequence analysisAdd BLAST11
Transmembranei138 – 163Helical; Name=2Sequence analysisAdd BLAST26
Topological domaini164 – 175ExtracellularSequence analysisAdd BLAST12
Transmembranei176 – 197Helical; Name=3Sequence analysisAdd BLAST22
Topological domaini198 – 218CytoplasmicSequence analysisAdd BLAST21
Transmembranei219 – 243Helical; Name=4Sequence analysisAdd BLAST25
Topological domaini244 – 271ExtracellularSequence analysisAdd BLAST28
Transmembranei272 – 296Helical; Name=5Sequence analysisAdd BLAST25
Topological domaini297 – 324CytoplasmicSequence analysisAdd BLAST28
Transmembranei325 – 350Helical; Name=6Sequence analysisAdd BLAST26
Topological domaini351 – 362ExtracellularSequence analysisAdd BLAST12
Transmembranei363 – 389Helical; Name=7Sequence analysisAdd BLAST27
Topological domaini390 – 442CytoplasmicSequence analysisAdd BLAST53

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Waardenburg syndrome 4A (WS4A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).
See also OMIM:277580
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003470183A → G in WS4A. 1 PublicationCorresponds to variant dbSNP:rs104894388EnsemblClinVar.1
Natural variantiVAR_015294292F → L in WS4A. 1 Publication1
Hirschsprung disease 2 (HSCR2)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.
See also OMIM:600155
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003471276W → C in HSCR2. 1 PublicationCorresponds to variant dbSNP:rs104894387EnsemblClinVar.1
Natural variantiVAR_003473319R → W in HSCR2; sporadic. 2 PublicationsCorresponds to variant dbSNP:rs200363611Ensembl.1
Natural variantiVAR_003474374M → I in HSCR2; decreased calcium release; no effect on cell membrane location. 2 Publications1
Natural variantiVAR_003475383P → L in HSCR2; familial; loss of cell membrane location; new cytoplasmic location. 3 Publications1
ABCD syndrome (ABCDS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine.
See also OMIM:600501
Heterozygous mutations in EDNRB may be responsible for Waardenburg syndrome 2, an autosomal dominant disorder characterized by sensorineural deafness and pigmentary disturbances.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi402C → S: Abolishes palmitoylation; when associated with S-403 and S-405. 1 Publication1
Mutagenesisi403C → S: Abolishes palmitoylation; when associated with S-402 and S-405. 1 Publication1
Mutagenesisi405C → S: Abolishes palmitoylation; when associated with S-402 and S-403. 1 Publication1

Keywords - Diseasei

Albinism, Deafness, Disease mutation, Hirschsprung disease, Waardenburg syndrome

Organism-specific databases

DisGeNETi1910
GeneReviewsiEDNRB
MalaCardsiEDNRB
MIMi142623 phenotype
277580 phenotype
600155 phenotype
600501 phenotype
OpenTargetsiENSG00000136160
Orphaneti388 Hirschsprung disease
897 Waardenburg-Shah syndrome
PharmGKBiPA27618

Chemistry databases

ChEMBLiCHEMBL1785
DrugBankiDB06403 Ambrisentan
DB00559 Bosentan
DB08932 Macitentan
DB06268 Sitaxentan
GuidetoPHARMACOLOGYi220

Polymorphism and mutation databases

BioMutaiEDNRB
DMDMi119622

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000001272927 – 442Endothelin receptor type BAdd BLAST416

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi59N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi174 ↔ 255PROSITE-ProRule annotation
Modified residuei305PhosphoserineBy similarity1
Lipidationi402S-palmitoyl cysteine1 Publication1
Lipidationi403S-palmitoyl cysteineSequence analysis1
Lipidationi405S-palmitoyl cysteineSequence analysis1
Modified residuei419PhosphoserineBy similarity1
Modified residuei439PhosphotyrosineBy similarity1
Modified residuei440PhosphoserineBy similarity1
Modified residuei441PhosphoserineBy similarity1
Modified residuei442PhosphoserineBy similarity1

Post-translational modificationi

Palmitoylation of Cys-402 was confirmed by the palmitoylation of Cys-402 in a deletion mutant lacking both Cys-403 and Cys-405.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

MaxQBiP24530
PaxDbiP24530
PeptideAtlasiP24530
PRIDEiP24530
ProteomicsDBi54211
54212 [P24530-2]
54213 [P24530-3]

PTM databases

iPTMnetiP24530
PhosphoSitePlusiP24530
SwissPalmiP24530

Expressioni

Tissue specificityi

Expressed in placental stem villi vessels, but not in cultured placental villi smooth muscle cells.1 Publication

Gene expression databases

BgeeiENSG00000136160
ExpressionAtlasiP24530 baseline and differential
GenevisibleiP24530 HS

Organism-specific databases

HPAiCAB017842
HPA027546

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
EDN1P053052EBI-6624656,EBI-715181

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi108232, 33 interactors
IntActiP24530, 1 interactor
STRINGi9606.ENSP00000366416

Chemistry databases

BindingDBiP24530

Structurei

Secondary structure

1442
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi93 – 128Combined sources36
Helixi130 – 133Combined sources4
Turni134 – 137Combined sources4
Helixi138 – 164Combined sources27
Helixi171 – 203Combined sources33
Beta strandi205 – 207Combined sources3
Beta strandi212 – 214Combined sources3
Helixi216 – 239Combined sources24
Beta strandi240 – 247Combined sources8
Beta strandi250 – 257Combined sources8
Helixi264 – 281Combined sources18
Helixi283 – 303Combined sources21
Helixi313 – 349Combined sources37
Beta strandi352 – 356Combined sources5
Helixi357 – 389Combined sources33
Helixi391 – 401Combined sources11

3D structure databases

ProteinModelPortaliP24530
SMRiP24530
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRB sub-subfamily.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3656 Eukaryota
ENOG410XRW9 LUCA
GeneTreeiENSGT00760000119177
HOVERGENiHBG051443
InParanoidiP24530
KOiK04198
OMAiTAEIMTP
PhylomeDBiP24530
TreeFamiTF331292

Family and domain databases

InterProiView protein in InterPro
IPR000499 Endthln_rcpt
IPR001112 ETB_rcpt
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
PfamiView protein in Pfam
PF00001 7tm_1, 1 hit
PRINTSiPR00571 ENDOTHELINBR
PR00366 ENDOTHELINR
PR00237 GPCRRHODOPSN
SMARTiView protein in SMART
SM01381 7TM_GPCR_Srsx, 1 hit
PROSITEiView protein in PROSITE
PS00237 G_PROTEIN_RECEP_F1_1, 1 hit
PS50262 G_PROTEIN_RECEP_F1_2, 1 hit

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform A (identifier: P24530-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQPPPSLCGR ALVALVLACG LSRIWGEERG FPPDRATPLL QTAEIMTPPT 
        60         70         80         90        100
KTLWPKGSNA SLARSLAPAE VPKGDRTAGS PPRTISPPPC QGPIEIKETF 
       110        120        130        140        150
KYINTVVSCL VFVLGIIGNS TLLRIIYKNK CMRNGPNILI ASLALGDLLH 
       160        170        180        190        200
IVIDIPINVY KLLAEDWPFG AEMCKLVPFI QKASVGITVL SLCALSIDRY 
       210        220        230        240        250
RAVASWSRIK GIGVPKWTAV EIVLIWVVSV VLAVPEAIGF DIITMDYKGS 
       260        270        280        290        300
YLRICLLHPV QKTAFMQFYK TAKDWWLFSF YFCLPLAITA FFYTLMTCEM 
       310        320        330        340        350
LRKKSGMQIA LNDHLKQRRE VAKTVFCLVL VFALCWLPLH LSRILKLTLY 
       360        370        380        390        400
NQNDPNRCEL LSFLLVLDYI GINMASLNSC INPIALYLVS KRFKNCFKSC 
       410        420        430        440 
LCCWCQSFEE KQSLEEKQSC LKFKANDHGY DNFRSSNKYS SS
Length:442
Mass (Da):49,644
Last modified:March 1, 1992 - v1
Checksum:iCD4F96CF92C7C51E
GO
Isoform B (identifier: P24530-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     399-442: SCLCCWCQSF...FRSSNKYSSS → AGPHVGNKLV...MWPERKSNNN

Show »
Length:436
Mass (Da):48,710
Checksum:iA10BD0DD646F981E
GO
Isoform C (identifier: P24530-3) [UniParc]FASTAAdd to basket
Also known as: Delta-3

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MNKSTCLMAA...RTPSGAGSSM

Show »
Length:532
Mass (Da):59,480
Checksum:i9734B81C0064F533
GO

Sequence cautioni

The sequence BAD92435 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti10R → P in AAB19411 (PubMed:1713452).Curated1
Sequence conflicti16V → L (PubMed:7536888).Curated1
Sequence conflicti22 – 24SRI → LGV (PubMed:7536888).Curated3
Sequence conflicti35R → K (PubMed:7536888).Curated1
Sequence conflicti45I → M in BAD92435 (Ref. 12) Curated1
Sequence conflicti58S → P in BAF83388 (PubMed:14702039).Curated1
Sequence conflicti140I → V (PubMed:7536888).Curated1
Sequence conflicti385A → V in BAF83388 (PubMed:14702039).Curated1
Isoform C (identifier: P24530-3)
Sequence conflicti79 – 84SGHRTP → RPPDA in AAD24541 (PubMed:10072757).Curated6

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0192855P → T1 PublicationCorresponds to variant dbSNP:rs12720160Ensembl.1
Natural variantiVAR_0146757L → Q. Corresponds to variant dbSNP:rs5345Ensembl.1
Natural variantiVAR_01467617L → F Polymorphism; no effect on cell membrane location. 1 PublicationCorresponds to variant dbSNP:rs5346EnsemblClinVar.1
Natural variantiVAR_07831217L → P Probable disease-associated mutation found in patients with Waardenburg syndrome 2; loss of cell membrane location; new cytoplasmic location. 1 Publication1
Natural variantiVAR_00346957G → S Associated with increased susceptibility for Hirschsprung disease; sex-dependent gene dosage effect. 4 PublicationsCorresponds to variant dbSNP:rs1801710EnsemblClinVar.1
Natural variantiVAR_02425576R → M. Corresponds to variant dbSNP:rs2228271Ensembl.1
Natural variantiVAR_014677112F → V. Corresponds to variant dbSNP:rs5347Ensembl.1
Natural variantiVAR_078313137N → Y Probable disease-associated mutation found in patients with Waardenburg syndrome 2; decreased calcium release upon endothelin 3 exposure; loss of downstream pathway activation upon endothelin 3 exposure; no effect on cell membrane location; no effect on internalization upon endothelin 3 exposure. 1 Publication1
Natural variantiVAR_078314156P → R Probable disease-associated mutation found in patients with Waardenburg syndrome 2; loss of cell membrane location; new cytoplasmic location. 1 Publication1
Natural variantiVAR_003470183A → G in WS4A. 1 PublicationCorresponds to variant dbSNP:rs104894388EnsemblClinVar.1
Natural variantiVAR_078315226 – 442Missing Probable disease-associated mutation found in patients with Waardenburg syndrome 2; loss of cell membrane location; new cytoplasmic location. 1 PublicationAdd BLAST217
Natural variantiVAR_014678244T → M. Corresponds to variant dbSNP:rs5350EnsemblClinVar.1
Natural variantiVAR_003471276W → C in HSCR2. 1 PublicationCorresponds to variant dbSNP:rs104894387EnsemblClinVar.1
Natural variantiVAR_015294292F → L in WS4A. 1 Publication1
Natural variantiVAR_003472305S → N2 PublicationsCorresponds to variant dbSNP:rs5352EnsemblClinVar.1
Natural variantiVAR_003473319R → W in HSCR2; sporadic. 2 PublicationsCorresponds to variant dbSNP:rs200363611Ensembl.1
Natural variantiVAR_003474374M → I in HSCR2; decreased calcium release; no effect on cell membrane location. 2 Publications1
Natural variantiVAR_003475383P → L in HSCR2; familial; loss of cell membrane location; new cytoplasmic location. 3 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0018781M → MNKSTCLMAAETPSKRWRLH CLAFSQRFVRAGPACSSREA CSSPRAGWNPAGFRLPGRWS PFVALHLVCQIREALKLRSG HRTPSGAGSSM in isoform C. 1 Publication1
Alternative sequenceiVSP_001879399 – 442SCLCC…KYSSS → AGPHVGNKLVMLFSVNIECD GTVNQNPTMWPERKSNNN in isoform B. 1 PublicationAdd BLAST44

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M74921 mRNA Translation: AAA58465.1
D90402 mRNA Translation: BAA14398.1
S44866 mRNA Translation: AAB19411.1
S57283 mRNA Translation: AAB25531.1
D13168 Genomic DNA Translation: BAA02445.1
L06623 mRNA Translation: AAA52342.1
X99250 mRNA Translation: CAA67623.1
AF114165 mRNA Translation: AAD24541.1
AY275463 mRNA Translation: AAP32295.1
AB209198 mRNA Translation: BAD92435.1 Different initiation.
AK290699 mRNA Translation: BAF83388.1
AY547312 Genomic DNA Translation: AAS38516.1
AL139002 Genomic DNA No translation available.
CH471093 Genomic DNA Translation: EAW80573.1
CH471093 Genomic DNA Translation: EAW80575.1
BC014472 mRNA Translation: AAH14472.1
AJ458188 Genomic DNA Translation: CAD30645.1
AJ458189 Genomic DNA Translation: CAD30646.1
AJ458190 Genomic DNA Translation: CAD30647.1
AJ458191 Genomic DNA Translation: CAD30648.1
CCDSiCCDS45059.1 [P24530-2]
CCDS55902.1 [P24530-3]
CCDS9461.1 [P24530-1]
PIRiA46609 JQ1042
RefSeqiNP_000106.1, NM_000115.4 [P24530-1]
NP_001116131.1, NM_001122659.2 [P24530-1]
NP_001188326.1, NM_001201397.1 [P24530-3]
NP_003982.1, NM_003991.3 [P24530-2]
UniGeneiHs.732046
Hs.743195
Hs.82002

Genome annotation databases

EnsembliENST00000334286; ENSP00000335311; ENSG00000136160 [P24530-1]
ENST00000377211; ENSP00000366416; ENSG00000136160 [P24530-3]
ENST00000475537; ENSP00000487082; ENSG00000136160 [P24530-1]
ENST00000626030; ENSP00000486202; ENSG00000136160 [P24530-2]
ENST00000646605; ENSP00000494278; ENSG00000136160 [P24530-1]
ENST00000646607; ENSP00000493527; ENSG00000136160 [P24530-1]
ENST00000646948; ENSP00000493895; ENSG00000136160 [P24530-1]
GeneIDi1910
KEGGihsa:1910
UCSCiuc001vko.3 human [P24530-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiEDNRB_HUMAN
AccessioniPrimary (citable) accession number: P24530
Secondary accession number(s): A2A2Z8
, A8K3T4, O15343, Q59GB1, Q5W0G9, Q8NHM6, Q8NHM7, Q8NHM8, Q8NHM9, Q9UD23, Q9UQK3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 1992
Last sequence update: March 1, 1992
Last modified: June 20, 2018
This is version 210 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  2. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

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