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P24530

- EDNRB_HUMAN

UniProt

P24530 - EDNRB_HUMAN

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Protein

Endothelin B receptor

Gene

EDNRB

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

  1. endothelin receptor activity Source: BHF-UCL
  2. peptide hormone binding Source: BHF-UCL

GO - Biological processi

  1. aging Source: Ensembl
  2. cell surface receptor signaling pathway Source: ProtInc
  3. cellular response to lipopolysaccharide Source: Ensembl
  4. cGMP-mediated signaling Source: Ensembl
  5. endothelin receptor signaling pathway Source: GOC
  6. enteric nervous system development Source: BHF-UCL
  7. enteric smooth muscle cell differentiation Source: BHF-UCL
  8. epithelial fluid transport Source: Ensembl
  9. macrophage chemotaxis Source: BHF-UCL
  10. melanocyte differentiation Source: Ensembl
  11. negative regulation of adenylate cyclase activity Source: ProtInc
  12. negative regulation of apoptotic process Source: Ensembl
  13. negative regulation of cellular protein metabolic process Source: BHF-UCL
  14. negative regulation of neuron maturation Source: BHF-UCL
  15. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  16. nervous system development Source: ProtInc
  17. neural crest cell migration Source: Ensembl
  18. peripheral nervous system development Source: Ensembl
  19. phospholipase C-activating G-protein coupled receptor signaling pathway Source: ProtInc
  20. positive regulation of cell proliferation Source: Ensembl
  21. positive regulation of cytosolic calcium ion concentration Source: Ensembl
  22. positive regulation of penile erection Source: Ensembl
  23. positive regulation of protein phosphorylation Source: Ensembl
  24. positive regulation of renal sodium excretion Source: Ensembl
  25. positive regulation of urine volume Source: Ensembl
  26. posterior midgut development Source: Ensembl
  27. regulation of blood pressure Source: Ensembl
  28. regulation of epithelial cell proliferation Source: Ensembl
  29. regulation of fever generation Source: Ensembl
  30. regulation of pH Source: Ensembl
  31. regulation of sensory perception of pain Source: Ensembl
  32. response to organic cyclic compound Source: Ensembl
  33. response to pain Source: Ensembl
  34. sensory perception of pain Source: Ensembl
  35. vasoconstriction Source: BHF-UCL
  36. vasodilation Source: Ensembl
  37. vein smooth muscle contraction Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

G-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

ReactomeiREACT_14819. Peptide ligand-binding receptors.
REACT_18283. G alpha (q) signalling events.
SignaLinkiP24530.

Names & Taxonomyi

Protein namesi
Recommended name:
Endothelin B receptor
Short name:
ET-B
Short name:
ET-BR
Alternative name(s):
Endothelin receptor non-selective type
Gene namesi
Name:EDNRB
Synonyms:ETRB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 13

Organism-specific databases

HGNCiHGNC:3180. EDNRB.

Subcellular locationi

GO - Cellular componenti

  1. integral component of plasma membrane Source: ProtInc
  2. membrane raft Source: Ensembl
  3. nuclear membrane Source: Ensembl
  4. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Waardenburg syndrome 4A (WS4A) [MIM:277580]: A 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).2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti183 – 1831A → G in WS4A. 1 Publication
VAR_003470
Natural varianti292 – 2921F → L in WS4A. 1 Publication
VAR_015294
Hirschsprung disease 2 (HSCR2) [MIM:600155]: A 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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti276 – 2761W → C in HSCR2. 1 Publication
VAR_003471
Natural varianti305 – 3051S → N in HSCR2; familial. 2 Publications
Corresponds to variant rs5352 [ dbSNP | Ensembl ].
VAR_003472
Natural varianti319 – 3191R → W in HSCR2; sporadic. 1 Publication
Corresponds to variant rs200363611 [ dbSNP | Ensembl ].
VAR_003473
Natural varianti374 – 3741M → I in HSCR2. 1 Publication
VAR_003474
Natural varianti383 – 3831P → L in HSCR2; familial. 1 Publication
VAR_003475
ABCD syndrome (ABCDS) [MIM:600501]: An 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi402 – 4021C → S: Abolishes palmitoylation; when associated with S-403 and S-405. 1 Publication
Mutagenesisi403 – 4031C → S: Abolishes palmitoylation; when associated with S-402 and S-405. 1 Publication
Mutagenesisi405 – 4051C → S: Abolishes palmitoylation; when associated with S-402 and S-403. 1 Publication

Keywords - Diseasei

Deafness, Disease mutation, Hirschsprung disease, Waardenburg syndrome

Organism-specific databases

MIMi142623. phenotype.
277580. phenotype.
600155. phenotype.
600501. phenotype.
Orphaneti388. Hirschsprung disease.
897. Waardenburg-Shah syndrome.
PharmGKBiPA27618.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626Sequence AnalysisAdd
BLAST
Chaini27 – 442416Endothelin B receptorPRO_0000012729Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi59 – 591N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi174 ↔ 255PROSITE-ProRule annotation
Modified residuei305 – 3051PhosphoserineBy similarity
Lipidationi402 – 4021S-palmitoyl cysteine1 Publication
Lipidationi403 – 4031S-palmitoyl cysteineSequence Analysis
Lipidationi405 – 4051S-palmitoyl cysteineSequence Analysis
Modified residuei419 – 4191PhosphoserineBy similarity
Modified residuei439 – 4391PhosphotyrosineBy similarity
Modified residuei440 – 4401PhosphoserineBy similarity
Modified residuei441 – 4411PhosphoserineBy similarity
Modified residuei442 – 4421PhosphoserineBy similarity

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.
PRIDEiP24530.

PTM databases

PhosphoSiteiP24530.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiP24530.
GenevestigatoriP24530.

Organism-specific databases

HPAiCAB017842.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi108232. 7 interactions.
IntActiP24530. 1 interaction.
MINTiMINT-107127.

Structurei

3D structure databases

ProteinModelPortaliP24530.
SMRiP24530. Positions 103-398.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini27 – 10175ExtracellularSequence AnalysisAdd
BLAST
Topological domaini127 – 13711CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini164 – 17512ExtracellularSequence AnalysisAdd
BLAST
Topological domaini198 – 21821CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini244 – 27128ExtracellularSequence AnalysisAdd
BLAST
Topological domaini297 – 32428CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini351 – 36212ExtracellularSequence AnalysisAdd
BLAST
Topological domaini390 – 44253CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei102 – 12625Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei138 – 16326Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei176 – 19722Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei219 – 24325Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei272 – 29625Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei325 – 35026Helical; Name=6Sequence AnalysisAdd
BLAST
Transmembranei363 – 38927Helical; Name=7Sequence AnalysisAdd
BLAST

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

eggNOGiNOG278704.
GeneTreeiENSGT00760000119177.
HOVERGENiHBG051443.
InParanoidiP24530.
KOiK04198.
OMAiLHIVIDI.
OrthoDBiEOG7HHWS4.
PhylomeDBiP24530.
TreeFamiTF331292.

Family and domain databases

Gene3Di1.20.1070.10. 1 hit.
InterProiIPR000499. Endthln_rcpt.
IPR001112. ETB_rcpt.
IPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
[Graphical view]
PfamiPF00001. 7tm_1. 1 hit.
[Graphical view]
PRINTSiPR00571. ENDOTHELINBR.
PR00366. ENDOTHELINR.
PR00237. GPCRRHODOPSN.
PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
[Graphical view]

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. Align

Isoform A (identifier: P24530) [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 BAD92435.1 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti10 – 101R → P in AAB19411. (PubMed:1713452)Curated
Sequence conflicti16 – 161V → L(PubMed:7536888)Curated
Sequence conflicti22 – 243SRI → LGV(PubMed:7536888)Curated
Sequence conflicti35 – 351R → K(PubMed:7536888)Curated
Sequence conflicti45 – 451I → M in BAD92435. 1 PublicationCurated
Sequence conflicti58 – 581S → P in BAF83388. (PubMed:14702039)Curated
Sequence conflicti140 – 1401I → V(PubMed:7536888)Curated
Sequence conflicti385 – 3851A → V in BAF83388. (PubMed:14702039)Curated
Isoform C (identifier: P24530-3)
Sequence conflicti79 – 846SGHRTP → RPPDA in AAD24541. (PubMed:10072757)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51P → T.1 Publication
Corresponds to variant rs12720160 [ dbSNP | Ensembl ].
VAR_019285
Natural varianti7 – 71L → Q.
Corresponds to variant rs5345 [ dbSNP | Ensembl ].
VAR_014675
Natural varianti17 – 171L → F.
Corresponds to variant rs5346 [ dbSNP | Ensembl ].
VAR_014676
Natural varianti57 – 571G → S Associated with increased susceptibility for Hirschsprung disease; sex-dependent gene dosage effect. 3 Publications
Corresponds to variant rs1801710 [ dbSNP | Ensembl ].
VAR_003469
Natural varianti76 – 761R → M.
Corresponds to variant rs2228271 [ dbSNP | Ensembl ].
VAR_024255
Natural varianti112 – 1121F → V.
Corresponds to variant rs5347 [ dbSNP | Ensembl ].
VAR_014677
Natural varianti183 – 1831A → G in WS4A. 1 Publication
VAR_003470
Natural varianti244 – 2441T → M.
Corresponds to variant rs5350 [ dbSNP | Ensembl ].
VAR_014678
Natural varianti276 – 2761W → C in HSCR2. 1 Publication
VAR_003471
Natural varianti292 – 2921F → L in WS4A. 1 Publication
VAR_015294
Natural varianti305 – 3051S → N in HSCR2; familial. 2 Publications
Corresponds to variant rs5352 [ dbSNP | Ensembl ].
VAR_003472
Natural varianti319 – 3191R → W in HSCR2; sporadic. 1 Publication
Corresponds to variant rs200363611 [ dbSNP | Ensembl ].
VAR_003473
Natural varianti374 – 3741M → I in HSCR2. 1 Publication
VAR_003474
Natural varianti383 – 3831P → L in HSCR2; familial. 1 Publication
VAR_003475

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MNKSTCLMAAETPSKRWRLH CLAFSQRFVRAGPACSSREA CSSPRAGWNPAGFRLPGRWS PFVALHLVCQIREALKLRSG HRTPSGAGSSM in isoform C. 1 PublicationVSP_001878
Alternative sequencei399 – 44244SCLCC…KYSSS → AGPHVGNKLVMLFSVNIECD GTVNQNPTMWPERKSNNN in isoform B. 1 PublicationVSP_001879Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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. Translation: CAM16893.1.
AL139002 Genomic DNA. Translation: CAH72430.1.
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.
CCDSiCCDS55902.1. [P24530-3]
CCDS9461.1. [P24530-1]
PIRiA46609. JQ1042.
RefSeqiNP_000106.1. NM_000115.3. [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.743195.
Hs.82002.

Genome annotation databases

EnsembliENST00000334286; ENSP00000335311; ENSG00000136160. [P24530-1]
ENST00000377211; ENSP00000366416; ENSG00000136160. [P24530-3]
GeneIDi1910.
KEGGihsa:1910.
UCSCiuc001vko.2. human. [P24530-1]
uc001vkp.1. human. [P24530-3]
uc010aez.1. human. [P24530-2]

Polymorphism databases

DMDMi119622.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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. Translation: CAM16893.1 .
AL139002 Genomic DNA. Translation: CAH72430.1 .
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 .
CCDSi CCDS55902.1. [P24530-3 ]
CCDS9461.1. [P24530-1 ]
PIRi A46609. JQ1042.
RefSeqi NP_000106.1. NM_000115.3. [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 ]
UniGenei Hs.743195.
Hs.82002.

3D structure databases

ProteinModelPortali P24530.
SMRi P24530. Positions 103-398.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108232. 7 interactions.
IntActi P24530. 1 interaction.
MINTi MINT-107127.

Chemistry

BindingDBi P24530.
ChEMBLi CHEMBL2096678.
DrugBanki DB00559. Bosentan.
DB08932. MACITENTAN.
DB06268. Sitaxentan.
GuidetoPHARMACOLOGYi 220.

Protein family/group databases

GPCRDBi Search...

PTM databases

PhosphoSitei P24530.

Polymorphism databases

DMDMi 119622.

Proteomic databases

MaxQBi P24530.
PaxDbi P24530.
PRIDEi P24530.

Protocols and materials databases

DNASUi 1910.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000334286 ; ENSP00000335311 ; ENSG00000136160 . [P24530-1 ]
ENST00000377211 ; ENSP00000366416 ; ENSG00000136160 . [P24530-3 ]
GeneIDi 1910.
KEGGi hsa:1910.
UCSCi uc001vko.2. human. [P24530-1 ]
uc001vkp.1. human. [P24530-3 ]
uc010aez.1. human. [P24530-2 ]

Organism-specific databases

CTDi 1910.
GeneCardsi GC13M078469.
GeneReviewsi EDNRB.
HGNCi HGNC:3180. EDNRB.
HPAi CAB017842.
MIMi 131244. gene.
142623. phenotype.
277580. phenotype.
600155. phenotype.
600501. phenotype.
neXtProti NX_P24530.
Orphaneti 388. Hirschsprung disease.
897. Waardenburg-Shah syndrome.
PharmGKBi PA27618.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG278704.
GeneTreei ENSGT00760000119177.
HOVERGENi HBG051443.
InParanoidi P24530.
KOi K04198.
OMAi LHIVIDI.
OrthoDBi EOG7HHWS4.
PhylomeDBi P24530.
TreeFami TF331292.

Enzyme and pathway databases

Reactomei REACT_14819. Peptide ligand-binding receptors.
REACT_18283. G alpha (q) signalling events.
SignaLinki P24530.

Miscellaneous databases

GeneWikii Endothelin_receptor_type_B.
GenomeRNAii 1910.
NextBioi 7779.
PROi P24530.
SOURCEi Search...

Gene expression databases

Bgeei P24530.
Genevestigatori P24530.

Family and domain databases

Gene3Di 1.20.1070.10. 1 hit.
InterProi IPR000499. Endthln_rcpt.
IPR001112. ETB_rcpt.
IPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
[Graphical view ]
Pfami PF00001. 7tm_1. 1 hit.
[Graphical view ]
PRINTSi PR00571. ENDOTHELINBR.
PR00366. ENDOTHELINR.
PR00237. GPCRRHODOPSN.
PROSITEi PS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and sequence analysis of a cDNA encoding human non-selective type of endothelin receptor."
    Nakamuta M., Takayanagi R., Sakai Y., Sakamoto S., Hagiwara H., Mizuno T., Saito Y., Hirose S., Yamamoto M., Nawata H.
    Biochem. Biophys. Res. Commun. 177:34-39(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
  2. "Molecular cloning of a non-isopeptide-selective human endothelin receptor."
    Ogawa Y., Nakao K., Arai H., Nakagawa O., Hosoda K., Suga S., Nakanishi S., Imura H.
    Biochem. Biophys. Res. Commun. 178:248-255(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
  3. "Cloning and functional expression of human cDNA for the ETB endothelin receptor."
    Sakamoto A., Yanagisawa M., Sakurai T., Takuwa Y., Yanagisawa H., Masaki T.
    Biochem. Biophys. Res. Commun. 178:656-663(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
  4. "Molecular cloning of human endothelin (ET) receptors ETA and ETB."
    Haendler B., Hechler U., Schleuning W.-D.
    J. Cardiovasc. Pharmacol. 20:S1-S4(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
    Tissue: Lung.
  5. "Molecular cloning of human endothelin receptors and their expression in vascular endothelial cells and smooth muscle cells."
    Arai H., Nakao K., Hosoda K., Ogawa Y., Nakagawa O., Komatsu Y., Imura H.
    Jpn. Circ. J. 56:1303-1307(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
  6. "The human endothelin-B receptor gene. Structural organization and chromosomal assignment."
    Arai H., Nakao K., Takaya K., Hosoda K., Ogawa Y., Nakanishi S., Imura H.
    J. Biol. Chem. 268:3463-3470(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  7. "Molecular characterization and regulation of the human endothelin receptors."
    Elshourbagy N.A., Korman D.R., Wu H.L., Sylvester D.R., Lee J.A., Nuthalaganti P., Bergsma D.J., Kumar C.S., Nambi P.
    J. Biol. Chem. 268:3873-3879(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
  8. "Cloning and expression of an endothelin receptor subtype B from human prostate that mediates contraction."
    Webb M.L., Chao C.-C., Rizzo M., Shapiro R.A., Neubauer M., Liu E.C.K., Aversa C.R., Brittain R.J., Treiger B.
    Mol. Pharmacol. 47:730-737(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), FUNCTION.
    Tissue: Prostate.
  9. "Molecular characterization of a novel human endothelin receptor splice variant."
    Elshourbagy N.A., Adamou J.E., Gagnon A.W., Wu H.L., Pullen M., Nambi P.
    J. Biol. Chem. 271:25300-25307(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B).
    Tissue: Placenta.
  10. "Novel endothelin B receptor transcripts with the potential of generating a new receptor."
    Tsutsumi M., Liang G., Jones P.A.
    Gene 228:43-49(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM C).
  11. "cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
    Warren C.N., Aronstam R.S., Sharma S.V.
    Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
    Tissue: Placenta.
  12. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
    Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
    Tissue: Brain.
  13. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Lung.
  14. NIEHS SNPs program
    Submitted (FEB-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-5 AND ASN-305.
  15. "The DNA sequence and analysis of human chromosome 13."
    Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
    Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  16. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  17. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
    Tissue: Skin.
  18. "Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome."
    Zaahl M.G., du Plessis L., Warnich L., Kotze M.J., Moore S.W.
    Mol. Cell. Probes 17:49-54(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-102; 172-196 AND 200-317.
  19. "Endothelin-1 and ETA receptor expression in vascular smooth muscle cells from human placenta: a new ETA receptor messenger ribonucleic acid is generated by alternative splicing of exon 3."
    Bourgeois C., Robert B., Rebourcet R., Mondon F., Mignot T.-M., Duc-Goiran P., Ferre F.
    J. Clin. Endocrinol. Metab. 82:3116-3123(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  20. "Palmitoylation of human endothelinB. Its critical role in G protein coupling and a differential requirement for the cytoplasmic tail by G protein subtypes."
    Okamoto Y., Ninomiya H., Tanioka M., Sakamoto A., Miwa S., Masaki T.
    J. Biol. Chem. 272:21589-21596(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: PALMITOYLATION AT CYS-402; CYS-403 AND CYS-405, MUTAGENESIS OF CYS-402; CYS-403 AND CYS-405.
  21. "Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype."
    Hofstra R.M.W., Osinga J., Buys C.H.C.M.
    Eur. J. Hum. Genet. 5:180-185(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON VARIANTS.
  22. "A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease."
    Puffenberger E.G., Hosoda K., Washington S.S., Nakao K., Dewit D., Yanagisawa M., Chakravarti A.
    Cell 79:1257-1266(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HSCR2 CYS-276.
  23. "Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease."
    Attie T., Till M., Pelet A., Amiel J., Edery P., Boutrand L., Munnich A., Lyonnet S.
    Hum. Mol. Genet. 4:2407-2409(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WS4A GLY-183.
  24. "Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population."
    Auricchio A., Casari G., Staiano A., Ballabio A.
    Hum. Mol. Genet. 5:351-354(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HSCR2 ASN-305.
  25. "Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease."
    Amiel J., Attie T., Jan D., Pelet A., Edery P., Bidaud C., Lacombe D., Tam P., Simeoni J., Flori E., Nihoul-Fekete C., Munnich A., Lyonnet S.
    Hum. Mol. Genet. 5:355-357(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HSCR2 TRP-319 AND LEU-383, VARIANT SER-57.
  26. "A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)."
    Hofstra R.M.W., Tan-Sindhunata G., Wu Y., Kamsteeg E.-J., Stulp R.P., van Ravenswaaij-Arts C., Majoor-Krakauer D., Angrist M., Chakravarti A., Meijers C., Buys C.H.C.M.
    Nat. Genet. 12:445-447(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HSCR2 ILE-374, VARIANT SER-57.
  27. "Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B)."
    Svensson P.J., Anvret M., Molander M.L., Nordenskjold A.
    Hum. Genet. 103:145-148(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SER-57.
  28. "Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling."
    Fuchs S., Amiel J., Claudel S., Lyonnet S., Corvol P., Pinet F.
    Mol. Med. 7:115-124(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS HSCR2 TRP-319 AND LEU-383, CHARACTERIZATION OF VARIANT SER-57.
  29. "ABCD syndrome is caused by a homozygous mutation in the EDNRB gene."
    Verheij J.B., Kunze J., Osinga J., van Essen A.J., Hofstra R.M.
    Am. J. Med. Genet. 108:223-225(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN ABCD SYNDROME.
  30. "SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism."
    Pingault V., Girard M., Bondurand N., Dorkins H., Van Maldergem L., Mowat D., Shimotake T., Verma I., Baumann C., Goossens M.
    Hum. Genet. 111:198-206(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WS4A LEU-292.

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 historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 1992
Last sequence update: March 1, 1992
Last modified: October 29, 2014
This is version 173 of the entry and version 1 of the sequence. [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

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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3