Gene Gene information from NCBI Gene database.
Entrez ID 55054
Gene name Autophagy related 16 like 1
Gene symbol ATG16L1
Synonyms (NCBI Gene)
APG16LATG16AATG16LIBD10WDR30
Chromosome 2
Chromosome location 2q37.1
Summary 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 infla
miRNA miRNA information provided by mirtarbase database.
533
miRTarBase ID miRNA Experiments Reference
MIRT049399 hsa-miR-92a-3p CLASH 23622248
MIRT048211 hsa-miR-196a-5p CLASH 23622248
MIRT038607 hsa-miR-188-3p CLASH 23622248
MIRT053623 hsa-miR-106b-5p HeLa 24036151
MIRT053623 hsa-miR-106b-5p HeLa 24036151
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
63
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA
GO:0000045 Process Autophagosome assembly IDA 23202584
GO:0000045 Process Autophagosome assembly IEA
GO:0000045 Process Autophagosome assembly IMP 30778222
GO:0000045 Process Autophagosome assembly ISO
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610767 21498 ENSG00000085978
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q676U5
Protein name Autophagy-related protein 16-1 (APG16-like 1)
Protein function Plays an essential role in both canonical and non-canonical autophagy: interacts with ATG12-ATG5 to mediate the lipidation to ATG8 family proteins (MAP1LC3A, MAP1LC3B, MAP1LC3C, GABARAPL1, GABARAPL2 and GABARAP) (PubMed:23376921, PubMed:23392225
PDB 4GDK , 4GDL , 4NAW , 4TQ0 , 5D7G , 5NPV , 5NPW , 5NUV , 5ZYX , 7F69 , 7W36 , 7XFR , 8ZQG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08614 ATG16 16 206 Autophagy protein 16 (ATG16) Coiled-coil
PF00400 WD40 313 350 WD domain, G-beta repeat Repeat
PF00400 WD40 356 394 WD domain, G-beta repeat Repeat
PF00400 WD40 398 436 WD domain, G-beta repeat Repeat
PF00400 WD40 523 562 WD domain, G-beta repeat Repeat
PF00400 WD40 566 604 WD domain, G-beta repeat Repeat
Sequence
Sequence length 607
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Autophagy - other
Autophagy - animal
NOD-like receptor signaling pathway
Shigellosis
  Macroautophagy
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATG16L1-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 27335178
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 28302031
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis GWASCAT_DG 26301688, 26974007
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 28952203
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arterial Occlusive Diseases Arterial occlusive disease Pubtator 33530273 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 25767270
★☆☆☆☆
Found in Text Mining only
Arthralgia Arthralgia Pubtator 36082465 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 34208077 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 21811995 Stimulate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASDB_DG 21150878
★☆☆☆☆
Found in Text Mining only