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Endotelin 3
Identifikatori
Aliasi	EDN3
Vanjski ID-jevi	OMIM: 131242 MGI: 95285 HomoloGene: 88 GeneCards: EDN3
Lokacija gena (čovjek)
Hrom.	Hromosom 20 (čovjek)
Kraj	59,325,992 bp
Lokacija gena (miš)
Hrom.	Hromosom 2 (miš)
Kraj	174,625,835 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• hormone activity; • endothelin B receptor binding; • signaling receptor binding;
Ćelijska komponenta	• extracellular region; • intracellular anatomical structure; • Vanćelijsko;
Biološki proces	• positive regulation of MAP kinase activity; • regulation of systemic arterial blood pressure by endothelin; • Vazokonstrikcija; • cell-cell signaling; • Krvotok; • neutrophil chemotaxis; • positive regulation of heart rate; • multicellular organism development; • positive regulation of leukocyte chemotaxis; • cell surface receptor signaling pathway; • vein smooth muscle contraction; • regulation of vasoconstriction; • peptide hormone secretion; • positive regulation of cell differentiation; • artery smooth muscle contraction; • Regulacija ekspresije gena; • inositol phosphate-mediated signaling; • positive regulation of mitotic nuclear division; • positive regulation of hormone secretion; • GO:0072468 Transdukcija signala; • regulation of signaling receptor activity; • G protein-coupled receptor signaling pathway; • neural crest cell migration; • cellular calcium ion homeostasis; • positive regulation of cell population proliferation; • cellular magnesium ion homeostasis; • neuron differentiation; • melanocyte differentiation; • regulation of cell migration; • regulation of developmental pigmentation; • positive regulation of potassium ion transmembrane transport;
	Izvori:Amigo / QuickGO
Ortolozi
	1908
	13616
	ENSG00000124205
	ENSMUSG00000027524
	P14138
	P48299
NM_000114; NM_207032; NM_207033; NM_207034; NM_001302455;
	NM_001302456
	NM_007903
	NP_001289384; NP_001289385; NP_996915; NP_996916; NP_996917
	NP_031929
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Endotelin-3 je protein, koji je kod ljudi kodiran genom EDN3.^[5]

Protein koji kodira ovaj gen član je porodice endotelina. Endotelini su vazoaktivni peptidi izvedeni iz endotela koji su uključeni u razne biološke funkcije. Aktivni oblik ovog proteina je peptid od 21 aminokiseline, prerađen iz proteina preteče. Aktivni peptid je ligand za endotelinski receptor tip B (EDNRB). Interakcija ovog endotelina s EDNRB od suštinske je važnosti za razvoj ćelijskih loza izvedenih iz nrvnog grebena, kao što su melanociti i crijevni neuroni. Mutacije u ovom genu i EDNRB povezane su sa Hirschsprungovom bolešću (HSCR) i Waardenburgovim sindromom (WS), koji su urođeni poremećaji koji uključuju ćelije izvedene iz nervnog grebena. Uočene su četiri alternativno prerađene varijante transkripta, koje kodiraju tri različite izoforme.^[5]^[5]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000124205 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027524 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b ^c "Entrez Gene: EDN3 endothelin 3".

Dopunska literatura

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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. doi:10.1159/000484760. PMID 9359036.
Parisi MA, Kapur RP (2001). "Genetics of Hirschsprung disease". Curr. Opin. Pediatr. 12 (6): 610–7. doi:10.1097/00008480-200012000-00017. PMID 11106284. S2CID 12573027.
O'Reilly G, Charnock-Jones DS, Davenport AP, et al. (1993). "Presence of messenger ribonucleic acid for endothelin-1, endothelin-2, and endothelin-3 in human endometrium and a change in the ratio of ETA and ETB receptor subtype across the menstrual cycle". J. Clin. Endocrinol. Metab. 75 (6): 1545–9. doi:10.1210/jc.75.6.1545. PMID 1464662.
Mills RG, O'Donoghue SI, Smith R, King GF (1992). "Solution structure of endothelin-3 determined using NMR spectroscopy". Biochemistry. 31 (24): 5640–5. doi:10.1021/bi00139a030. PMID 1610811.
Rao VV, Löffler C, Hansmann I (1991). "The gene for the novel vasoactive peptide endothelin 3 (EDN3) is localized to human chromosome 20q13.2-qter". Genomics. 10 (3): 840–1. doi:10.1016/0888-7543(91)90472-Q. PMID 1889823.
Arinami T, Ishikawa M, Inoue A, et al. (1991). "Chromosomal assignments of the human endothelin family genes: the endothelin-1 gene (EDN1) to 6p23-p24, the endothelin-2 gene (EDN2) to 1p34, and the endothelin-3 gene (EDN3) to 20q13.2-q13.3". Am. J. Hum. Genet. 48 (5): 990–6. PMC 1683044. PMID 2018043.
Onda H, Ohkubo S, Ogi K, et al. (1990). "One of the endothelin gene family, endothelin 3 gene, is expressed in the placenta". FEBS Lett. 261 (2): 327–30. doi:10.1016/0014-5793(90)80583-5. PMID 2178974. S2CID 37516374.
Lees WE, Kalinka S, Meech J, et al. (1990). "Generation of human endothelin by cathepsin E." FEBS Lett. 273 (1–2): 99–102. doi:10.1016/0014-5793(90)81060-2. PMID 2226872. S2CID 43466635.
Bloch KD, Eddy RL, Shows TB, Quertermous T (1989). "cDNA cloning and chromosomal assignment of the gene encoding endothelin 3". J. Biol. Chem. 264 (30): 18156–61. PMID 2509452.
Inoue A, Yanagisawa M, Kimura S, et al. (1989). "The human endothelin family: three structurally and pharmacologically distinct isopeptides predicted by three separate genes". Proc. Natl. Acad. Sci. U.S.A. 86 (8): 2863–7. doi:10.1073/pnas.86.8.2863. PMC 287019. PMID 2649896.
Yu JC, Davenport AP (1995). "Secretion of endothelin-1 and endothelin-3 by human cultured vascular smooth muscle cells". Br. J. Pharmacol. 114 (2): 551–7. doi:10.1111/j.1476-5381.1995.tb13262.x. PMC 1510231. PMID 7881755.
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. S2CID 32577813.
Edery P, Attié T, Amiel J, et al. (1996). "Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)". Nat. Genet. 12 (4): 442–4. doi:10.1038/ng0496-442. PMID 8630502. S2CID 19637835.
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. hdl:1765/54507. PMID 8630503. S2CID 935271.
Lahav R, Ziller C, Dupin E, Le Douarin NM (1996). "Endothelin 3 promotes neural crest cell proliferation and mediates a vast increase in melanocyte number in culture". Proc. Natl. Acad. Sci. U.S.A. 93 (9): 3892–7. doi:10.1073/pnas.93.9.3892. PMC 39455. PMID 8632985.
Bolk S, Angrist M, Xie J, et al. (1996). "Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome". Nat. Genet. 13 (4): 395–6. doi:10.1038/ng0896-395. PMID 8696331. S2CID 1129547.
Nakano A, Kishi F, Minami K, et al. (1997). "Selective conversion of big endothelins to tracheal smooth muscle-constricting 31-amino acid-length endothelins by chymase from human mast cells". J. Immunol. 159 (4): 1987–92. PMID 9257865.
Bourgeois C, Robert B, Rebourcet R, et al. (1997). "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". J. Clin. Endocrinol. Metab. 82 (9): 3116–23. doi:10.1210/jc.82.9.3116. PMID 9284755.
Wiesmann F, Veeck J, Galm O, et al. (2009). "Frequent loss of endothelin-3 (EDN3) expression due to epigenetic inactivation in human breast cancer". Breast Cancer Res. 11 (3): R34. doi:10.1186/bcr2319. PMC 2716502. PMID 19527488.

Šablon:Peptidergici

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000124205 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000027524 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: EDN3 endothelin 3".

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Endotelin 3

Reference

Dopunska literatura