YIPF6

YIPF6
Identifikatori
Aliasi	YIPF6
Vanjski ID-jevi	OMIM: 300996 MGI: 1925179 HomoloGene: 15501 GeneCards: YIPF6
Lokacija gena (čovjek) Hrom. Hromosom X[1] Bend Xq12-q13.1 Početak 68,498,562 bp[1] Kraj 68,537,282 bp[1]
Lokacija gena (miš) Hrom. Hromosom X (miš)[2] Bend X|X C3 Početak 97,979,922 bp[2] Kraj 97,992,623 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • GO:0001948, GO:0016582 vezivanje za proteine • vezivanje identičnih proteina Ćelijska komponenta • integral component of membrane • COPII-coated ER to Golgi transport vesicle • cis-Golgi network • Endoplazmatski retikulum • membrana • Golgi trans cisterna • Golgi medial cisterna • trans-Golđijeva mreža • Golđijeva membrana • Golđijev aparat Biološki proces • intestinal epithelial cell development Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	286451	77929
Ensembl	ENSG00000181704	ENSMUSG00000047694
UniProt	Q96EC8	Q8BR70
RefSeq (mRNK)	NM_001195214 NM_173834	NM_207633 NM_030007
RefSeq (bjelančevina)	NP_001182143 NP_776195	NP_997516
Lokacija (UCSC)	Chr X: 68.5 – 68.54 Mb	Chr X: 97.98 – 97.99 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Protein YIPF6 je protein koji je kod ljudi kodiran genom YIPF6.^[5][6]

Kod miševa je utvrđeno da nulti alel YIPF6 uzrokuje upalu crijeva koja rezultira spontanim kolitisom i ileitisom, oštećujući crijevnu homeostazu. Oštećenje je nastalo zbog defekata u formiranju i lučenju velikih sekrecijskih granula iz peharastih i Panethovih ćelija.^[7] Budući da je mutacija YIPF6 X-spolno vezana rezultirala spontanom bolešću, sugerira se da može povećati osjetljivost na upalnu bolest crijeva kod ljudi, posebno kod muškaraca.^[7][8]

Reference

1. GRCh38: Ensembl release 89: ENSG00000181704 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000047694 - 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.
5. Strausberg RL, Feingold EA, Grouse LH, et al. (Dec 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc Natl Acad Sci U S A. 99 (26): 16899–16903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
6. "Entrez Gene: YIPF6 Yip1 domain family, member 6".
7. Brandl, Katherina; Tomisato, Wataru; Li, Xiaohong; et al. (juli 2012). "Yip1 domain family, member 6 (Yipf6) mutation induces spontaneous intestinal inflammation in mice". Proceedings of the National Academy of Sciences. 109 (31): 12650–12655. doi:10.1073/pnas.1210366109. PMC 3412000. PMID 22802641.
8. Moresco, Eva Marie Y.; Brandl, Katherina (januar 2013). "Linking membrane trafficking and intestinal homeostasis". Tissue Barriers. 1 (1): e23119. doi:10.4161/tisb.23119. PMC 3875636. PMID 24665373.

Dopunska literatura

• Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–1795. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
• Simpson JC; Wellenreuther R; Poustka A; et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–292. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
• Ota T; Suzuki Y; Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
• Gerhard DS; Wagner L; Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Wiemann S; Arlt D; Huber W; et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–2144. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
• Ross MT; Grafham DV; Coffey AJ; et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–337. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.
• Rual JF; Venkatesan K; Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–1178. doi:10.1038/nature04209. PMID 16189514.
• Mehrle A; Rosenfelder H; Schupp I; et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–D418. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.