Q676U5 (A16L1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 99.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Autophagy-related protein 16-1 Alternative name(s): APG16-like 1 | ||||||
| Gene names |
| ||||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 607 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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. Ref.11 |
| Subunit structure | Homooligomer. Interacts with 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. Ref.11 |
| Subcellular location | Cytoplasm By similarity. Preautophagosomal structure membrane; Peripheral membrane protein By similarity. Note: Localized to preautophagosomal structure (PAS) where it is involved in the membrane targeting of ATG5 By similarity. |
| Involvement in disease | 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. |
| Sequence similarities | Belongs to the WD repeat ATG16 family. Contains 7 WD repeats. |
| Sequence caution | The sequence BAB15448.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS. The sequence BAB55412.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Autophagy Protein transport Transport |
| Cellular component | Cytoplasm Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil Repeat WD repeat |
| PTM | Phosphoprotein |
| Technical term | 3D-structure Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | autophagic vacuole assembly Non-traceable author statement Ref.1. Source: UniProtKB protein homooligomerizationNon-traceable author statement Ref.1. Source: UniProtKB protein transportInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | autophagic vacuole Inferred from sequence or structural similarity Ref.1. Source: UniProtKB autophagic vacuole membraneInferred from electronic annotation. Source: Compara pre-autophagosomal structure membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| GABARAPL2 | P60520 | 2 | EBI-535909,EBI-720116 | |
| MAP1LC3B | Q9GZQ8 | 2 | EBI-535909,EBI-373144 | |
| MAP1LC3C | Q9BXW4 | 4 | EBI-535909,EBI-2603996 |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q676U5-1) Also known as: APG16L beta; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q676U5-2) The sequence of this isoform differs from the canonical sequence as follows: 266-284: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform 3 (identifier: Q676U5-3) The sequence of this isoform differs from the canonical sequence as follows: 443-470: IKTVFAGSSCNDIVCTEQCVMSGHFDKK → EEIQSLCLCICLDVSVEVCVCTSEPAFM 471-607: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q676U5-4) The sequence of this isoform differs from the canonical sequence as follows: 70-213: Missing. 334-368: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q676U5-5) The sequence of this isoform differs from the canonical sequence as follows: 70-213: Missing. 266-284: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||
Molecule processing | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 607 | 607 | Autophagy-related protein 16-1 | PRO_0000050848 | |||||||||
Regions | |||||||||||||
| Repeat | 320 – 359 | 40 | WD 1 | ||||||||||
| Repeat | 364 – 403 | 40 | WD 2 | ||||||||||
| Repeat | 406 – 445 | 40 | WD 3 | ||||||||||
| Repeat | 447 – 484 | 38 | WD 4 | ||||||||||
| Repeat | 486 – 525 | 40 | WD 5 | ||||||||||
| Repeat | 532 – 573 | 42 | WD 6 | ||||||||||
| Repeat | 575 – 607 | 33 | WD 7 | ||||||||||
| Coiled coil | 78 – 230 | 153 | Potential | ||||||||||
Amino acid modifications | |||||||||||||
| Modified residue | 269 | 1 | Phosphoserine Ref.10 | ||||||||||
| Modified residue | 287 | 1 | Phosphoserine Ref.9 Ref.10 | ||||||||||
| Modified residue | 289 | 1 | Phosphoserine By similarity | ||||||||||
Natural variations | |||||||||||||
| Alternative sequence | 70 – 213 | 144 | Missing in isoform 4 and isoform 5. | VSP_013389 | |||||||||
| Alternative sequence | 266 – 284 | 19 | Missing in isoform 2 and isoform 5. | VSP_013386 | |||||||||
| Alternative sequence | 334 – 368 | 35 | Missing in isoform 4. | VSP_013390 | |||||||||
| Alternative sequence | 443 – 470 | 28 | IKTVF…HFDKK → EEIQSLCLCICLDVSVEVCV CTSEPAFM in isoform 3. | VSP_013387 | |||||||||
| Alternative sequence | 471 – 607 | 137 | Missing in isoform 3. | VSP_013388 | |||||||||
| Natural variant | 300 | 1 | T → A Associated with susceptibility to IBD10. Ref.1 Ref.2 Ref.12 Corresponds to variant rs2241880 [ dbSNP | Ensembl ]. | VAR_021834 | |||||||||
| Natural variant | 307 | 1 | E → K. Corresponds to variant rs1866878 [ dbSNP | Ensembl ]. | VAR_053386 | |||||||||
Experimental info | |||||||||||||
| Sequence conflict | 151 | 1 | K → R in BAB55412. Ref.6 | ||||||||||
| Sequence conflict | 328 | 1 | V → A in BAB55412. Ref.6 | ||||||||||
| Sequence conflict | 529 | 1 | P → T in BAB55412. Ref.6 | ||||||||||
Secondary structure | |||||||||||||
Helix Strand Turn | |||||||||||||
| Helix | 12 – 28 | 17 | |||||||||||
| Helix | 30 – 41 | 12 | |||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and analysis of human Apg16L." Zheng H., Ji C., Li J., Jiang H., Ren M., Lu Q., Gu S., Mao Y., Xie Y. DNA Seq. 15:303-305(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-300. Tissue: Fetal brain. |
| [2] | "A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1." Hampe J., Franke A., Rosenstiel P., Till A., Teuber M., Huse K., Albrecht M., Mayr G., De La Vega F.M., Briggs J., Guenther S., Prescott N.J., Onnie C.M., Haesler R., Sipos B., Foelsch U.R., Lengauer T., Platzer M. Schreiber S.Nat. Genet. 39:207-211(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 5), ASSOCIATION OF VARIANT ALA-300 WITH SUSCEPTIBILITY TO IBD10. |
| [3] | "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. Gray A.M.Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 55-607 (ISOFORM 2). Tissue: Brain, Placenta and Small intestine. |
| [5] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 114-607 (ISOFORM 2). Tissue: Mammary gland. |
| [8] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 513-607. Tissue: Testis. |
| [9] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-287, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [10] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-269 AND SER-287, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [11] | "TMEM59 defines a novel ATG16L1-binding motif that promotes local activation of LC3." Boada-Romero E., Letek M., Fleischer A., Pallauf K., Ramon-Barros C., Pimentel-Muinos F.X. EMBO J. 32:566-582(2013) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH TMEM59; TLR2 AND NOD2. |
| [12] | "Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis." Rioux J.D., Xavier R.J., Taylor K.D., Silverberg M.S., Goyette P., Huett A., Green T., Kuballa P., Barmada M.M., Datta L.W., Shugart Y.Y., Griffiths A.M., Targan S.R., Ippoliti A.F., Bernard E.-J., Mei L., Nicolae D.L., Regueiro M. Brant S.R.Nat. Genet. 39:596-604(2007) [PubMed] [Europe PMC] [Abstract] Cited for: ASSOCIATION OF VARIANT ALA-300 WITH SUSCEPTIBILITY TO IBD10. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AY398617 mRNA. Translation: AAR32130.1. EF079889 mRNA. Translation: ABN48554.1. EF079890 mRNA. Translation: ABN48555.1. AY358182 mRNA. Translation: AAQ88549.1. AK026330 mRNA. Translation: BAB15448.1. Sequence problems. AK027854 mRNA. Translation: BAB55412.1. Different initiation. AK123876 mRNA. Translation: BAC85713.1. AC013726 Genomic DNA. No translation available. CH471063 Genomic DNA. Translation: EAW71034.1. BC071846 mRNA. Translation: AAH71846.1. AL834526 mRNA. Translation: CAD39182.1. | ||||||||||||||||||
| IPI | IPI00432751. IPI00446614. IPI00470446. IPI00555905. IPI00797150. | ||||||||||||||||||
| RefSeq | NP_001177195.1. NM_001190266.1. NP_001177196.1. NM_001190267.1. NP_060444.3. NM_017974.3. NP_110430.5. NM_030803.6. NP_942593.2. NM_198890.2. | ||||||||||||||||||
| UniGene | Hs.529322. | ||||||||||||||||||
3D structure databases | |||||||||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||||||||
| ProteinModelPortal | Q676U5. | ||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||
| DIP | DIP-27552N. | ||||||||||||||||||
| IntAct | Q676U5. 19 interactions. | ||||||||||||||||||
| MINT | MINT-1141152. | ||||||||||||||||||
| STRING | 9606.ENSP00000375872. | ||||||||||||||||||
PTM databases | |||||||||||||||||||
| PhosphoSite | Q676U5. | ||||||||||||||||||
Polymorphism databases | |||||||||||||||||||
| DMDM | 62510482. | ||||||||||||||||||
Proteomic databases | |||||||||||||||||||
| PaxDb | Q676U5. | ||||||||||||||||||
| PRIDE | Q676U5. | ||||||||||||||||||
Protocols and materials databases | |||||||||||||||||||
| DNASU | 55054. | ||||||||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||||||||
Genome annotation databases | |||||||||||||||||||
| Ensembl | ENST00000347464; ENSP00000318259; ENSG00000085978. ENST00000373525; ENSP00000362625; ENSG00000085978. ENST00000392017; ENSP00000375872; ENSG00000085978. ENST00000392020; ENSP00000375875; ENSG00000085978. | ||||||||||||||||||
| GeneID | 55054. | ||||||||||||||||||
| KEGG | hsa:55054. | ||||||||||||||||||
| UCSC | uc002vty.3. human. uc002vtz.3. human. uc002vua.3. human. | ||||||||||||||||||
Organism-specific databases | |||||||||||||||||||
| CTD | 55054. | ||||||||||||||||||
| GeneCards | GC02P234118. | ||||||||||||||||||
| HGNC | HGNC:21498. ATG16L1. | ||||||||||||||||||
| HPA | HPA012577. | ||||||||||||||||||
| MIM | 610767. gene. 611081. phenotype. | ||||||||||||||||||
| neXtProt | NX_Q676U5. | ||||||||||||||||||
| Orphanet | 206. Crohn disease. | ||||||||||||||||||
| PharmGKB | PA134902949. | ||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||
| eggNOG | COG2319. | ||||||||||||||||||
| HOGENOM | HOG000112569. | ||||||||||||||||||
| HOVERGEN | HBG050534. | ||||||||||||||||||
| OrthoDB | EOG4SXNC8. | ||||||||||||||||||
Gene expression databases | |||||||||||||||||||
| ArrayExpress | Q676U5. | ||||||||||||||||||
| Bgee | Q676U5. | ||||||||||||||||||
| CleanEx | HS_ATG16L1. | ||||||||||||||||||
| Genevestigator | Q676U5. | ||||||||||||||||||
| GermOnline | ENSG00000085978. Homo sapiens. | ||||||||||||||||||
Family and domain databases | |||||||||||||||||||
| Gene3D | 2.130.10.10. 1 hit. | ||||||||||||||||||
| InterPro | IPR013923. Autophagy-rel_prot_16. IPR020472. G-protein_beta_WD-40_rep. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR019775. WD40_repeat_CS. IPR017986. WD40_repeat_dom. [Graphical view] | ||||||||||||||||||
| Pfam | PF08614. ATG16. 1 hit. PF00400. WD40. 5 hits. [Graphical view] | ||||||||||||||||||
| PRINTS | PR00320. GPROTEINBRPT. | ||||||||||||||||||
| SMART | SM00320. WD40. 7 hits. [Graphical view] | ||||||||||||||||||
| SUPFAM | SSF50978. WD40_like. 1 hit. | ||||||||||||||||||
| PROSITE | PS00678. WD_REPEATS_1. 3 hits. PS50082. WD_REPEATS_2. 6 hits. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view] | ||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||
Other | |||||||||||||||||||
| GenomeRNAi | 55054. | ||||||||||||||||||
| NextBio | 58531. | ||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||
Entry information
| Entry name | A16L1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q676U5 Secondary accession number(s): A3EXK9 Q9H619 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 2 Human chromosome 2: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
