Endotelinski receptor tip B

Izvor: Wikipedia
edit
Endotelinski receptor tip B
Identifikatori
Simboli EDNRB; ABCDS; ETB; ETRB; HSCR; HSCR2
Vanjski ID OMIM131244 MGI102720 HomoloGene89 IUPHAR: ETB GeneCards: EDNRB Gene
Pregled RNK izražavanja
PBB GE EDNRB 204271 s at tn.png
PBB GE EDNRB 204273 at tn.png
PBB GE EDNRB 206701 x at tn.png
podaci
Ortolozi
Vrsta Čovek Miš
Entrez 1910 13618
Ensembl ENSG00000136160 ENSMUSG00000022122
UniProt P24530 Q8K1V9
RefSeq (mRNA) NM_000115 NM_007904
RefSeq (protein) NP_000106 NP_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[uredi - уреди]

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[uredi - уреди]

  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". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1910. 

Dodatna literatura[uredi - уреди]

  • 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. 

Spoljašnje veze[uredi - уреди]