Endotelinski receptor tip B

edit

Endotelinski receptor tip B
Identifikatori
Simboli	EDNRB; ABCDS; ETB; ETRB; HSCR; HSCR2
Vanjski ID	OMIM: 131244 MGI: 102720 HomoloGene: 89 IUPHAR: ETB GeneCards: EDNRB Gene
Ontologija gena Molekularna funkcija • aktivnost rodopsinu-sličnog receptora • aktivnost endotelin-B receptora • receptorska aktivnost • proteinsko vezivanje Celularna komponenta • ćelijska membrana • integralno sa ćelijskom membranom Biološki proces • neuralna krest ćelijska migracija • pH regulacija • negativna regulacija adenilat ciklazne aktivnosti • G-protein signalizacija, spregnuta sa IP3 sekundarnim glasnikom (aktivacija fosfolipaze C) • razvoj perifernog nervnog sistema • senzorna percepcija zvuka • regulacija krvnog pritiska • melanocitna diferencijacija • pigmentacija tokom razvoja
Pregled RNK izražavanja
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 ET_B je protein koji je kod ljudi kodiran EDNRB genom.

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.

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. 

Vanjske veze

• „Endothelin Receptors: ET_B”. IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology. Arhivirano iz originala na datum 2021-10-25.