ATG16L1

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Autophagy related 16-like 1 (S. cerevisiae)
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ATG16L1 ; APG16L; ATG16A; ATG16L; IBD10; WDR30
External IDs OMIM610767 MGI1924290 HomoloGene41786 GeneCards: ATG16L1 Gene
RNA expression pattern
PBB GE ATG16L1 220521 s at tn.png
PBB GE ATG16L1 gnf1h10982 at tn.png
PBB GE ATG16L1 gnf1h10983 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 55054 77040
Ensembl ENSG00000085978 ENSMUSG00000026289
UniProt Q676U5 Q8C0J2
RefSeq (mRNA) NM_001190266 NM_001205391
RefSeq (protein) NP_001177195 NP_001192320
Location (UCSC) Chr 2:
234.12 – 234.2 Mb
Chr 1:
87.76 – 87.79 Mb
PubMed search [1] [2]

Autophagy-related protein 16-1 is a protein that in humans is encoded by the ATG16L1 gene.[1]

Function[edit]

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.[2][3]

Clinical significance[edit]

Mutations in the ATG16L1 gene may be linked to Crohn's disease.[4][5][6]

References[edit]

  1. ^ Zheng H, Ji C, Li J, Jiang H, Ren M, Lu Q, Gu S, Mao Y, Xie Y (August 2004). "Cloning and analysis of human Apg16L". DNA sequence : the journal of DNA sequencing and mapping 15 (4): 303–5. doi:10.1080/10425170400004104. PMID 15620219. 
  2. ^ Mizushima N, Kuma A, Kobayashi Y, Yamamoto A, Matsubae M, Takao T, Natsume T, Ohsumi Y, Yoshimori T (May 2003). "Mouse Apg16L, a novel WD-repeat protein, targets to the autophagic isolation membrane with the Apg12-Apg5 conjugate". Journal of Cell Science 116 (Pt 9): 1679–88. doi:10.1242/jcs.00381. PMID 12665549. 
  3. ^ "Entrez Gene: ATG16L1 ATG16 autophagy related 16-like 1 (S. cerevisiae)". 
  4. ^ 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 (February 2007). "A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1". Nature Genetics 39 (2): 207–11. doi:10.1038/ng1954. PMID 17200669. 
  5. ^ 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' (May 2007). "Genome-wide association study identifies five novel susceptibility loci for Crohn's disease and implicates a role for autophagy in disease pathogenesis". Nature Genetics 39 (5): 596–604. doi:10.1038/ng2032. PMC 2757939. PMID 17435756. 
  6. ^ "Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls". Nature 447 (7145): 661–78. June 2007. doi:10.1038/nature05911. PMC 2719288. PMID 17554300. 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.