ATG16L1

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ATG16L1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases ATG16L1, autophagy related 16-like 1 (S. cerevisiae), APG16L, ATG16A, ATG16L, IBD10, WDR30, autophagy related 16 like 1
External IDs MGI: 1924290 HomoloGene: 41786 GeneCards: 55054
Genetically Related Diseases
Disease Name References
Crohn's disease
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
Ensembl
UniProt
RefSeq (mRNA)

NM_001190266
NM_001190267
NM_017974
NM_030803
NM_198890

NM_001205391
NM_001205392
NM_029846

RefSeq (protein)

NP_001192320.1
NP_084122.2

Location (UCSC) Chr 2: 233.21 – 233.3 Mb Chr 1: 87.76 – 87.79 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Autophagy-related protein 16-1 is a protein that in humans is encoded by the ATG16L1 gene.[4]

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.[5][6]

Clinical significance[edit]

Mutations in the ATG16L1 gene may be linked to Crohn's disease.[7][8][9]

References[edit]

  1. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_8778&geneId=292732". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ "Entrez Gene: ATG16L1 ATG16 autophagy related 16-like 1 (S. cerevisiae)". 
  7. ^ 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. 
  8. ^ 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 2757939free to read. PMID 17435756. 
  9. ^ Burton, Paul R.; Clayton, David G.; Cardon, Lon R.; Craddock, Nick; Deloukas, Panos; Duncanson, Audrey; Kwiatkowski, Dominic P.; McCarthy, Mark I.; et al. (June 2007). "Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls". Nature. 447 (7145): 661–78. doi:10.1038/nature05911. PMC 2719288free to read. PMID 17554300. 

Further reading[edit]

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