ATG16L1

ATG16 autophagy related 16-like 1 (S. cerevisiae), also known as ATG16L1, is a human gene.cite journal | author = Zheng H, Ji C, Li J, Jiang H, Ren M, Lu Q, Gu S, Mao Y, Xie Y | title = Cloning and analysis of human Apg16L | journal = DNA sequence : the journal of DNA sequencing and mapping | volume = 15 | issue = 4 | pages = 303–5 | year = 2004 | month = August | pmid = 15620219 | doi = | url = | issn = ]

Function

Autophagy is the major intracellular degradation system delivering cytoplasmic components to lysosomes, and it accounts for degradation of most long-lived proteins and some organelles. Cytoplasmic constituents, including organelles, are sequestered into double-membraned autophagosomes, which subsequently fuse with lysosomes. ATG16L1 is a component of a large protein complex essential for autophagy.cite journal | author = Mizushima N, Kuma A, Kobayashi Y, Yamamoto A, Matsubae M, Takao T, Natsume T, Ohsumi Y, Yoshimori T| title = Mouse Apg16L, a novel WD-repeat protein, targets to the autophagic isolation membrane with the Apg12-Apg5 conjugate | journal = Journal of cell science | volume = 116 | issue = Pt 9 | pages = 1679–88 | year = 2003 | month = May | pmid = 12665549 | doi = 10.1242/jcs.00381 | url = | issn = ] cite web | title = Entrez Gene: ATG16L1 ATG16 autophagy related 16-like 1 (S. cerevisiae)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55054| accessdate = ]

Clinical significance

Mutations in the ATG16L1 gene may be linked to Crohn's disease.cite journal | author = Hampe J, Franke A, Rosenstiel P, Till A, Teuber M, Huse K, Albrecht M, Mayr G, De La Vega FM, Briggs J, Günther S, Prescott NJ, Onnie CM, Häsler R, Sipos B, Fölsch UR, Lengauer T, Platzer M, Mathew CG, Krawczak M, Schreiber S | title = A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1 | journal = Nature genetics | volume = 39 | issue = 2 | pages = 207–11 | year = 2007 | month = February | pmid = 17200669 | doi = 10.1038/ng1954 | url = | issn = ] cite journal | author = Rioux JRioux JD, Xavier RJ, Taylor KD, Silverberg MS, Goyette P, Huett A, Green T, Kuballa P, Barmada MM, Datta LW, Shugart YY, Griffiths AM, Targan SR, Ippoliti AF, Bernard EJ, Mei L, Nicolae DL, Regueiro M, Schumm LP, Steinhart AH, Rotter JI, Duerr RH, Cho JH, Daly MJ, Brant SR' | title = Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis | journal = Nature genetics | volume = 39 | issue = 5 | pages = 596–604 | year = 2007 | month = May | pmid = 17435756 | doi = 10.1038/ng2032 | url = | issn = ] cite journal | author = | title = Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls | journal = Nature | volume = 447 | issue = 7145 | pages = 661–78 | year = 2007 | month = June | pmid = 17554300 | doi = 10.1038/nature05911 | url = | issn = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Venter JC, Adams MD, Myers EW, "et al." |title=The sequence of the human genome. |journal=Science |volume=291 |issue= 5507 |pages= 1304–51 |year= 2001 |pmid= 11181995 |doi= 10.1126/science.1058040
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Mizushima N, Kuma A, Kobayashi Y, "et al." |title=Mouse Apg16L, a novel WD-repeat protein, targets to the autophagic isolation membrane with the Apg12-Apg5 conjugate. |journal=J. Cell. Sci. |volume=116 |issue= Pt 9 |pages= 1679–88 |year= 2004 |pmid= 12665549 |doi=
*cite journal | author=Clark HF, Gurney AL, Abaya E, "et al." |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Bouwmeester T, Bauch A, Ruffner H, "et al." |title=A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway. |journal=Nat. Cell Biol. |volume=6 |issue= 2 |pages= 97–105 |year= 2004 |pmid= 14743216 |doi= 10.1038/ncb1086
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Zheng H, Ji C, Li J, "et al." |title=Cloning and analysis of human Apg16L. |journal=DNA Seq. |volume=15 |issue= 4 |pages= 303–5 |year= 2005 |pmid= 15620219 |doi=
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406
*cite journal | author=Hampe J, Franke A, Rosenstiel P, "et al." |title=A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. |journal=Nat. Genet. |volume=39 |issue= 2 |pages= 207–11 |year= 2007 |pmid= 17200669 |doi= 10.1038/ng1954
*cite journal | author=Ewing RM, Chu P, Elisma F, "et al." |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue= |pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134
*cite journal | author=Prescott NJ, Fisher SA, Franke A, "et al." |title=A nonsynonymous SNP in ATG16L1 predisposes to ileal Crohn's disease and is independent of CARD15 and IBD5. |journal=Gastroenterology |volume=132 |issue= 5 |pages= 1665–71 |year= 2007 |pmid= 17484864 |doi= 10.1053/j.gastro.2007.03.034
*cite journal | author=Yamazaki K, Onouchi Y, Takazoe M, "et al." |title=Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients. |journal=J. Hum. Genet. |volume=52 |issue= 7 |pages= 575–83 |year= 2007 |pmid= 17534574 |doi= 10.1007/s10038-007-0156-z
*cite journal | author=Baldassano RN, Bradfield JP, Monos DS, "et al." |title=Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's disease. |journal=Gut |volume=56 |issue= 8 |pages= 1171–3 |year= 2007 |pmid= 17625155 |doi= 10.1136/gut.2007.122747

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