YIPF6

YIPF6
Identifikatori
AliasiYIPF6
Vanjski ID-jeviOMIM: 300996 MGI: 1925179 HomoloGene: 15501 GeneCards: YIPF6
Lokacija gena (čovjek)
Hromosom X
Hrom.Hromosom X[1]
Hromosom X
Genomska lokacija za YIPF6
Genomska lokacija za YIPF6
BendXq12-q13.1Početak68,498,562 bp[1]
Kraj68,537,282 bp[1]
Lokacija gena (miš)
Hromosom X (miš)
Hrom.Hromosom X (miš)[2]
Hromosom X (miš)
Genomska lokacija za YIPF6
Genomska lokacija za YIPF6
BendX|X C3Početak97,979,922 bp[2]
Kraj97,992,623 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
VrsteČovjekMiš
Entrez
Ensembl
UniProt
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 MbChr X: 97.98 – 97.99 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000181704 - Ensembl, maj 2017
  2. ^ a b c 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. ^ a b 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

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