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FLASH GENE
Symbol ATG16L1 contributors: mct - updated : 10-07-2017
HGNC name ATG16 autophagy related 16-like 1 (S. cerevisiae)
HGNC id 21498
Location 2q37.1      Physical location : 234.160.216 - 234.204.319
Synonym name
  • APG16 autophagy 16-like
  • WD repeat domain 30
  • APG16L beta
    • Synonym symbol(s) WDR30, APG16L, ATG16L, FLJ00045, FLJ10035, FLJ10828, FLJ22677, ATG16A
    DNA
    TYPE functioning gene
    STRUCTURE 44.10 kb     18 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 3411 - 607 colocalised with the lysosome within the cells, and with the mitochondria 2013 23512522
  • isoform 1, ATG16L1-1
  • contains the complete sequence
    • 17 - 3354 - 588 colocalised with the lysosome within the cells 2013 23512522
  • isoform 2, ATG16L1-2
  • lacks all of exon 8
    • - - 2922 - 444 - 2013 23512522
  • isoform 3, ATG16L1-6
    • - - 3407 - 491 - 2013 23512522
  • isoform 5, ATG16L1-5
    • - - 3409 - 523 . colocalised with the lysosome within the cells, and with the mitochondria 2013 23512522
  • isoform 4, ATG16L1-3
  • lacking the coiled-coil domain
    		•
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
    Endocrineneuroendocrinepituitary  highly
    Lymphoid/Immunethymus   highly
    Nervousnerve   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal APG16 domain consisting of coiled-coil domain involved in the process of autophagy
  • and a tryptophan-aspartic acid (WD) repeat domain, involved in the process of autophagy
  • a short domain the FIP200-binding domain (FBD)
  • a motif with eight WD repeats, at the C-terminus
    • mono polymer homomer , oligo
    HOMOLOGY
    interspecies ortholog to murine Atg16l1
    Homologene
    FAMILY
  • WD repeat ATG16 family
    • CATEGORY transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,lysosome
    text localized to preautophagosomal structure
    basic FUNCTION
  • playing an essential role in autophagy
  • involved in the membrane targeting of APG5L
  • have a potential role within the intestinal epithelium by selective effects on the cell biology and specialized regulatory properties of Paneth cells
  • regulates not only autophagy in all cell types, but also secretion from dense-core vesicles, presumably by acting as a Rab33A effector, in particular cell types
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
  • part of either the minor and major complexes respectively composed of 4 sets of APG12L-APG5L and APG16L (400 kDa) or 8 sets of APG12L-APG5L and APG16L (800 kDa)
  • ATG16L1 and NOD2 are components of an autophagy-mediated antibacterial pathway that is altered in a cell- and function-specific manner by Crohn disease-associated mutations
  • is a key component of an E3-like ATG12-ATG5-ATG16L1 protein complex that catalyzes conjugation of the MAP1LC3 protein to lipids, thus controlling autophagic vesicle formation and expansion
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with APG5L
  • direct interaction between ATG5 and ATG16L1 is crucial to the performance of their roles in autophagy
  • functional link between NOD2 and ATG16L1, which are encoded by two of the most important genes associated with Crohn disease
  • interacts with the small GTPase RAB33A
  • interaction between RB1CC1 and ATG16L1, essential components of the ULK1 and ATG5 complexes, respectively
  • NOD1 CARD binds ubiquitin (Ub), in addition to directly binding its downstream targets receptor-interacting protein kinase 2 (RIPK2) and autophagy-related protein 16-1 (ATG16L1)
  • endogenous TMEM59 interacts with ATG16L1 and mediates autophagy in response to Staphylococcus aureus infection
  • during process of induced autophagy, the ATG12-ATG5 conjugate requires 2 different binding partners, ATG16L1 for autophagosome elongation and TECPR1 for lysosomal fusion
  • TECPR1 and ATG16L1 share the same binding site on ATG5 (swapping of interaction partners with ATG5 for autophagosome maturation)
  • C3 interacts with ATG16L1, which is essential for autophagy
  • interface between WIPI2 and ATG16L1 mediates autophagosome formation under starvation conditions
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to Crohn disease
  • to development of hepatocellular carcinoma (HCC)
    • Variant & Polymorphism SNP
  • increasing the risk of Crohn disease
  • ATG16L1 polymorphism associated with an excessive production of IL1B and IL6, which may explain the effects of this polymorphism on the inflammatory process in Crohn disease
  • ATG16L1 rs4663402 significantly associated with HCC risk
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS