Endotelinski receptor tip B

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Endotelinski receptor tip B
Identifikatori
SimboliEDNRB; ABCDS; ETB; ETRB; HSCR; HSCR2
Vanjski IDOMIM: 131244 MGI: 102720 HomoloGene: 89 IUPHAR: ETB GeneCards: EDNRB Gene
Pregled RNK izražavanja
podaci
Ortolozi
VrstaČovekMiš
Entrez191013618
EnsemblENSG00000136160ENSMUSG00000022122
UniProtP24530Q8K1V9
RefSeq (mRNA)NM_000115NM_007904
RefSeq (protein)NP_000106NP_031930
Lokacija (UCSC)Chr 13:
77.37 - 77.39 Mb		Chr 14:
102.7 - 102.73 Mb
PubMed pretraga[1][2]

Endotelinski receptor tip B, ili ETB je protein koji je kod ljudi kodiran EDNRB genom.[1]

Funkcija

Endotelinski receptor tip B je G protein spregnuti receptor koji aktivira sistem fosfatidilinozitol-kalcijumskih sekundarnih glasnika. Njegov ligand, endotelin, se sastoji od familije sa tri potentna vazoaktivna peptida: ET1, ET2, i ET3. Splajsna varijanta, imenovana SVR, je poznata; sekvenca ETB-SVR receptora je identična sa ETRB izuzev intracelularnog C-terminalnog domena. Dok obe splajsne varijante vezuju ET1, one imaju različite response nakon vezivana, što sugerira da one različito funkcionišu.[2]

Literatura

  1. ↑ Cyr C, Huebner K, Druck T, Kris R (November 1991). „Cloning and chromosomal localization of a human endothelin ETA receptor”. Biochem. Biophys. Res. Commun. 181 (1): 184–90. DOI:10.1016/S0006-291X(05)81399-3. PMID 1659806. 
  2. ↑ „Entrez Gene: EDNRB endothelin receptor type B”. 

Dodatna literatura

  • Hofstra RM, Osinga J, Buys CH (1998). „Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype.”. Eur. J. Hum. Genet. 5 (4): 180–5. PMID 9359036. 
  • Haendler B, Hechler U, Schleuning WD (1993). „Molecular cloning of human endothelin (ET) receptors ETA and ETB.”. J. Cardiovasc. Pharmacol. 20 Suppl 12: S1–4. PMID 1282938. 
  • Arai H, Nakao K, Hosoda K, et al. (1993). „[Molecular cloning of human endothelin receptors and their expression in vascular endothelial cells and smooth muscle cells]”. Jpn. Circ. J. 56 Suppl 5: 1303–7. PMID 1291713. 
  • Ogawa Y, Nakao K, Arai H, et al. (1991). „Molecular cloning of a non-isopeptide-selective human endothelin receptor.”. Biochem. Biophys. Res. Commun. 178 (1): 248–55. DOI:10.1016/0006-291X(91)91806-N. PMID 1648908. 
  • Cyr C, Huebner K, Druck T, Kris R (1992). „Cloning and chromosomal localization of a human endothelin ETA receptor.”. Biochem. Biophys. Res. Commun. 181 (1): 184–90. DOI:10.1016/S0006-291X(05)81399-3. PMID 1659806. 
  • Nakamuta M, Takayanagi R, Sakai Y, et al. (1991). „Cloning and sequence analysis of a cDNA encoding human non-selective type of endothelin receptor.”. Biochem. Biophys. Res. Commun. 177 (1): 34–9. DOI:10.1016/0006-291X(91)91944-8. PMID 1710450. 
  • Sakamoto A, Yanagisawa M, Sakurai T, et al. (1991). „Cloning and functional expression of human cDNA for the ETB endothelin receptor.”. Biochem. Biophys. Res. Commun. 178 (2): 656–63. DOI:10.1016/0006-291X(91)90158-4. PMID 1713452. 
  • Vane J (1991). „Endothelins come home to roost.”. Nature 348 (6303): 673. DOI:10.1038/348673a0. PMID 2175394. 
  • Puffenberger EG, Kauffman ER, Bolk S, et al. (1995). „Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.”. Hum. Mol. Genet. 3 (8): 1217–25. DOI:10.1093/hmg/3.8.1217. PMID 7987295. 
  • Puffenberger EG, Hosoda K, Washington SS, et al. (1995). „A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.”. Cell 79 (7): 1257–66. DOI:10.1016/0092-8674(94)90016-7. PMID 8001158. 
  • Baynash AG, Hosoda K, Giaid A, et al. (1995). „Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons.”. Cell 79 (7): 1277–85. DOI:10.1016/0092-8674(94)90018-3. PMID 8001160. 
  • Arai H, Nakao K, Takaya K, et al. (1993). „The human endothelin-B receptor gene. Structural organization and chromosomal assignment.”. J. Biol. Chem. 268 (5): 3463–70. PMID 8429023. 
  • Elshourbagy NA, Korman DR, Wu HL, et al. (1993). „Molecular characterization and regulation of the human endothelin receptors.”. J. Biol. Chem. 268 (6): 3873–9. PMID 8440682. 
  • Hofstra RM, Osinga J, Tan-Sindhunata G, et al. (1996). „A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).”. Nat. Genet. 12 (4): 445–7. DOI:10.1038/ng0496-445. PMID 8630503. 
  • Attié T, Till M, Pelet A, et al. (1996). „Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.”. Hum. Mol. Genet. 4 (12): 2407–9. DOI:10.1093/hmg/4.12.2407. PMID 8634719. 
  • Elshourbagy NA, Adamou JE, Gagnon AW, et al. (1996). „Molecular characterization of a novel human endothelin receptor splice variant.”. J. Biol. Chem. 271 (41): 25300–7. DOI:10.1074/jbc.271.41.25300. PMID 8810293. 
  • Kusafuka T, Wang Y, Puri P (1997). „Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease.”. Hum. Mol. Genet. 5 (3): 347–9. DOI:10.1093/hmg/5.3.347. PMID 8852658. 
  • Auricchio A, Casari G, Staiano A, Ballabio A (1997). „Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population.”. Hum. Mol. Genet. 5 (3): 351–4. DOI:10.1093/hmg/5.3.351. PMID 8852659. 
  • Amiel J, Attié T, Jan D, et al. (1997). „Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.”. Hum. Mol. Genet. 5 (3): 355–7. DOI:10.1093/hmg/5.3.355. PMID 8852660. 
  • Freedman NJ, Ament AS, Oppermann M, et al. (1997). „Phosphorylation and desensitization of human endothelin A and B receptors. Evidence for G protein-coupled receptor kinase specificity.”. J. Biol. Chem. 272 (28): 17734–43. DOI:10.1074/jbc.272.28.17734. PMID 9211925. 

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