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Aliases for ATG16L1 Gene

Aliases for ATG16L1 Gene

  • Autophagy Related 16-Like 1 (S. Cerevisiae) 2 3
  • APG16L 3 4 6
  • IBD10 3 6
  • ATG16 Autophagy Related 16-Like 1 (S. Cerevisiae) 2
  • ATG16 Autophagy Related 16-Like (S. Cerevisiae) 2
  • APG16 Autophagy 16-Like (S. Cerevisiae) 2
  • ATG16 Autophagy Related 16-Like 1 3
  • Autophagy-Related Protein 16-1 3
  • WD Repeat Domain 30 3
  • APG16-Like 1 4
  • APG16L Beta 3
  • ATG16A 3
  • ATG16L 3
  • WDR30 3

External Ids for ATG16L1 Gene

Previous HGNC Symbols for ATG16L1 Gene

  • APG16L
  • ATG16L

Previous GeneCards Identifiers for ATG16L1 Gene

  • GC02P233943
  • GC02P233825
  • GC02P234118
  • GC02P225960

Summaries for ATG16L1 Gene

Entrez Gene Summary for ATG16L1 Gene

  • The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]

GeneCards Summary for ATG16L1 Gene

ATG16L1 (Autophagy Related 16-Like 1 (S. Cerevisiae)) is a Protein Coding gene. Diseases associated with ATG16L1 include inflammatory bowel disease 10 and inflammatory bowel disease. Among its related pathways are Senescence and Autophagy and Regulation of autophagy. GO annotations related to this gene include identical protein binding. An important paralog of this gene is ATG16L2.

UniProtKB/Swiss-Prot for ATG16L1 Gene

  • Plays an essential role in autophagy: interacts with ATG12-ATG5 to mediate the conjugation of phosphatidylethanolamine (PE) to LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C), to produce a membrane-bound activated form of LC3 named LC3-II. Thereby, controls the elongation of the nascent autophagosomal membrane.

Gene Wiki entry for ATG16L1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATG16L1 Gene

Genomics for ATG16L1 Gene

Regulatory Elements for ATG16L1 Gene

Genomic Location for ATG16L1 Gene

Start:
233,210,051 bp from pter
End:
233,295,674 bp from pter
Size:
85,624 bases
Orientation:
Plus strand

Genomic View for ATG16L1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATG16L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATG16L1 Gene

Proteins for ATG16L1 Gene

  • Protein details for ATG16L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q676U5-A16L1_HUMAN
    Recommended name:
    Autophagy-related protein 16-1
    Protein Accession:
    Q676U5
    Secondary Accessions:
    • A3EXK9
    • A3EXL0
    • B6ZDH0
    • Q6IPN1
    • Q6UXW4
    • Q6ZVZ5
    • Q8NCY2
    • Q96JV5
    • Q9H619

    Protein attributes for ATG16L1 Gene

    Size:
    607 amino acids
    Molecular mass:
    68265 Da
    Quaternary structure:
    • Homooligomer. Interacts with WIPI2, FIP200 and ATG5. Part of either the minor and major complexes respectively composed of 4 sets of ATG12-ATG5 and ATG16L1 (400 kDa) or 8 sets of ATG12-ATG5 and ATG16L1 (800 kDa) (By similarity). Interacts with RAB33B (By similarity). Interacts with TMEM59, TLR2 and NOD2.
    SequenceCaution:
    • Sequence=BAB15448.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=BAB55412.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ATG16L1 Gene

    Alternative splice isoforms for ATG16L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATG16L1 Gene

Proteomics data for ATG16L1 Gene at MOPED

Post-translational modifications for ATG16L1 Gene

  • Proteolytic cleavage by activated CASP3 leads to degradation and may regulate autophagy upon cellular stress and apoptotic stimuli.
  • Ubiquitination at Lys513
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ATG16L1 (ATG16)

No data available for DME Specific Peptides for ATG16L1 Gene

Domains for ATG16L1 Gene

Gene Families for ATG16L1 Gene

HGNC:
  • WDR :WD repeat domain containing

Graphical View of Domain Structure for InterPro Entry

Q676U5

UniProtKB/Swiss-Prot:

A16L1_HUMAN :
  • Q676U5
Family:
  • Belongs to the WD repeat ATG16 family.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with ATG16L1: view

Function for ATG16L1 Gene

Molecular function for ATG16L1 Gene

UniProtKB/Swiss-Prot Function:
Plays an essential role in autophagy: interacts with ATG12-ATG5 to mediate the conjugation of phosphatidylethanolamine (PE) to LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C), to produce a membrane-bound activated form of LC3 named LC3-II. Thereby, controls the elongation of the nascent autophagosomal membrane.

Gene Ontology (GO) - Molecular Function for ATG16L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20562859
GO:0042802 identical protein binding IPI 20562859
genes like me logo Genes that share ontologies with ATG16L1: view
genes like me logo Genes that share phenotypes with ATG16L1: view

Animal Models for ATG16L1 Gene

MGI Knock Outs for ATG16L1:

Animal Model Products

CRISPR Products

miRNA for ATG16L1 Gene

miRTarBase miRNAs that target ATG16L1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATG16L1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ATG16L1 Gene

Localization for ATG16L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATG16L1 Gene

Cytoplasm. Preautophagosomal structure membrane; Peripheral membrane protein. Note=Recruited to omegasomes membranes by WIPI2. Omegasomes are endoplasmic reticulum connected strutures at the origin of preautophagosomal structures. Localized to preautophagosomal structure (PAS) where it is involved in the membrane targeting of ATG5. Localizes also to discrete punctae along the ciliary axoneme. {ECO:0000250 UniProtKB:Q8C0J2}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATG16L1 Gene COMPARTMENTS Subcellular localization image for ATG16L1 gene
Compartment Confidence
vacuole 4
nucleus 3
cytosol 2
lysosome 2
endoplasmic reticulum 1
endosome 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ATG16L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000421 autophagic vacuole membrane IBA --
GO:0005776 autophagic vacuole ISS 15620219
GO:0005930 axoneme ISS --
GO:0034045 pre-autophagosomal structure membrane IEA --
genes like me logo Genes that share ontologies with ATG16L1: view

Pathways for ATG16L1 Gene

genes like me logo Genes that share pathways with ATG16L1: view

Pathways by source for ATG16L1 Gene

1 BioSystems pathway for ATG16L1 Gene
1 KEGG pathway for ATG16L1 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for ATG16L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagic vacuole assembly NAS 15620219
GO:0015031 protein transport IEA --
GO:0039689 negative stranded viral RNA replication IBA --
GO:0051260 protein homooligomerization NAS 15620219
genes like me logo Genes that share ontologies with ATG16L1: view

Transcripts for ATG16L1 Gene

Unigene Clusters for ATG16L1 Gene

Autophagy related 16-like 1 (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATG16L1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATG16L1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a ·
SP1: - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - -
SP5: - - - -
SP6: - - - - - - - - - - -
SP7: - - - - - -
SP8: -
SP9:
SP10: - -
SP11:
SP12: - - - - - - -
SP13:
SP14:
SP15: -

ExUns: 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c
SP1: -
SP2: -
SP3:
SP4: -
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14:
SP15:

Relevant External Links for ATG16L1 Gene

GeneLoc Exon Structure for
ATG16L1
ECgene alternative splicing isoforms for
ATG16L1

Expression for ATG16L1 Gene

mRNA expression in normal human tissues for ATG16L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for ATG16L1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.3), Brain (7.6), and Testis (7.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATG16L1 Gene

SOURCE GeneReport for Unigene cluster for ATG16L1 Gene Hs.529322

genes like me logo Genes that share expressions with ATG16L1: view

Expression partners for ATG16L1 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ATG16L1 Gene

Orthologs for ATG16L1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATG16L1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATG16L1 35
  • 88.58 (n)
  • 94.07 (a)
ATG16L1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATG16L1 35
  • 89.9 (n)
  • 95.39 (a)
ATG16L1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atg16l1 35
  • 89.49 (n)
  • 94.22 (a)
Atg16l1 16
Atg16l1 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATG16L1 35
  • 99.73 (n)
  • 99.84 (a)
ATG16L1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atg16l1 35
  • 89.82 (n)
  • 94.06 (a)
oppossum
(Monodelphis domestica)
Mammalia ATG16L1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATG16L1 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATG16L1 35
  • 80.07 (n)
  • 86.33 (a)
ATG16L1 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATG16L1 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atg16l1 35
  • 72.4 (n)
  • 80.33 (a)
zebrafish
(Danio rerio)
Actinopterygii atg16l1 35
  • 65.71 (n)
  • 69.84 (a)
atg16l1 36
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31033 35
  • 49.44 (n)
  • 42.18 (a)
CG31033 36
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atg-16.1 36
  • 29 (a)
ManyToMany
atg-16.2 36
  • 29 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G50230 35
  • 43.9 (n)
  • 32.15 (a)
rice
(Oryza sativa)
Liliopsida Os03g0746600 35
  • 43.06 (n)
  • 30.6 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToMany
Species with no ortholog for ATG16L1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATG16L1 Gene

ENSEMBL:
Gene Tree for ATG16L1 (if available)
TreeFam:
Gene Tree for ATG16L1 (if available)

Paralogs for ATG16L1 Gene

Paralogs for ATG16L1 Gene

genes like me logo Genes that share paralogs with ATG16L1: view

Variants for ATG16L1 Gene

Sequence variations from dbSNP and Humsavar for ATG16L1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs6861 -- 233,295,467(+) TCAGG(C/T)GGCCT utr-variant-3-prime, nc-transcript-variant
rs1045095 -- 233,294,901(+) CTCTT(C/T)CACTG utr-variant-3-prime, nc-transcript-variant
rs1045100 -- 233,294,951(+) CGACA(C/T)ATTTA utr-variant-3-prime, nc-transcript-variant
rs1441090 -- 233,259,396(-) cccaa(C/T)ccttc intron-variant
rs1816753 -- 233,250,963(-) AACCC(A/G)GAGAT upstream-variant-2KB

Relevant External Links for ATG16L1 Gene

HapMap Linkage Disequilibrium report
ATG16L1
Human Gene Mutation Database (HGMD)
ATG16L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ATG16L1 Gene

Disorders for ATG16L1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for ATG16L1 Gene in MalaCards »

(3) Diseases for ATG16L1 Gene including...

(1) OMIM Diseases for ATG16L1 Gene (610767)

UniProtKB/Swiss-Prot

A16L1_HUMAN
  • Inflammatory bowel disease 10 (IBD10) [MIM:611081]: A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. {ECO:0000269 PubMed:17200669, ECO:0000269 PubMed:17435756}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for ATG16L1 Gene

Relevant External Links for ATG16L1

Genetic Association Database (GAD)
ATG16L1
Human Genome Epidemiology (HuGE) Navigator
ATG16L1
genes like me logo Genes that share disorders with ATG16L1: view

No data available for Novoseek inferred disease relationships and Genatlas for ATG16L1 Gene

Publications for ATG16L1 Gene

  1. A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. (PMID: 17200669) Hampe J. … Schreiber S. (Nat. Genet. 2007) 3 4 23 48
  2. Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients. (PMID: 17534574) Yamazaki K. … Hata A. (J. Hum. Genet. 2007) 3 23 48
  3. ATG16L1 and IL23R are associated with inflammatory bowel diseases but not with celiac disease in the Netherlands. (PMID: 18047540) Weersma R.K. … Dijkstra G. (Am. J. Gastroenterol. 2008) 3 23 48
  4. Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy. (PMID: 18698678) Latiano A. … Annese V. (World J. Gastroenterol. 2008) 3 23 48
  5. Molecular prediction of disease risk and severity in a large Dutch Crohn's disease cohort. (PMID: 18824555) Weersma R.K. … Dijkstra G. (Gut 2009) 3 23 48

Products for ATG16L1 Gene

Sources for ATG16L1 Gene

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