Reviewed,
UniProtKB/Swiss-Prot Q676U5 (A16L1_HUMAN)
Last modified
September 23, 2008.
Version 52.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
Customize display | text xml rdf/xml gff fasta |
Names and origin
| Protein names | Recommended name: Autophagy-related protein 16-1 Alternative name(s): APG16-like 1 | ||||||
| Gene names |
| ||||||
| Organism | Homo sapiens (Human) | ||||||
| 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. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Plays an essential role in autophagy By similarity. |
| 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. |
| Subcellular location | CytoplasmBy similarity. Preautophagosomal structure membrane; Peripheral membrane proteinBy similarity. Note= Localized to preautophagosomal structure (PAS) where it is involved in the membrane targeting of ATG5 By similarity. |
| Involvement in disease | Genetic variations in ATG16L1 are associated with susceptibility to inflammatory bowel disease type 10 (IBD10) [MIM:611081]. IBD is characterized by a chronic relapsing intestinal inflammation. IBD is subdivided into Crohn disease (CD) and ulcerative colitis phenotypes. IBD10 individuals show the phenotype characteristic to CD. It may involve any part of the gastrointestinal tract, but most frequently the terminal ileum and colon. CD is commonly classified as autoimmune disease. |
| 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. |
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 |
Gene Ontology (GO) | |
| Biological process | autophagosome formation Ref.1 Non-traceable author statement. Source: UniProtKB protein homooligomerization Ref.1Non-traceable author statement. Source: UniProtKB |
| Cellular component | autophagic vacuole Ref.1 Inferred from sequence or structural similarity. Source: UniProtKB |
| Molecular function | protein binding Inferred from physical interaction. Source: IntAct |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 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. | |||||
| Notes: No experimental confirmation available. Probable target of 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. | |||||
| Notes: 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. | |||||
| Notes: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | ||||
Molecule processing | ||||||||
|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 607 | 607 | Autophagy-related protein 16-1 | |||||
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 | 287 | 1 | Phosphoserine | |||||
| Modified residue | 289 | 1 | Phosphoserine By similarity | |||||
| Modified residue | 290 | 1 | Phosphoserine | |||||
| Modified residue | 304 | 1 | Phosphoserine | |||||
Natural variations | ||||||||
| Alternative sequence | 70 – 213 | 144 | Missing in isoform 4. | |||||
| Alternative sequence | 266 – 284 | 19 | Missing in isoform 2. | |||||
| Alternative sequence | 334 – 368 | 35 | Missing in isoform 4. | |||||
| Alternative sequence | 443 – 470 | 28 | IKTVF…HFDKK → EEIQSLCLCICLDVSVEVCV CTSEPAFM in isoform 3. | |||||
| Alternative sequence | 471 – 607 | 137 | Missing in isoform 3. | |||||
| Natural variant | 300 | 1 | T → A Associated with susceptibility to IBD10. dbSNP rs2241880. | |||||
Experimental info | ||||||||
| Sequence conflict | 151 | 1 | K → R in BAB55412. Ref.3 | |||||
| Sequence conflict | 328 | 1 | V → A in BAB55412. Ref.3 | |||||
| Sequence conflict | 529 | 1 | P → T in BAB55412. Ref.3 | |||||
Sequences
| ||||||||||||||||||||||||||||||||||||
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: 15620219] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-300. Tissue: Fetal brain. |
| [2] | "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: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). |
| [3] | "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: 14702039] [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. |
| [4] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 114-607 (ISOFORM 2). Tissue: Mammary gland. |
| [5] | The German cDNA consortium Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 513-607. Tissue: Testis. |
| [6] | "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-287; SER-290 AND SER-304, MASS SPECTROMETRY. Tissue: Epithelium. |
| [7] | "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: 17200669] [Abstract] Cited for: ASSOCIATION OF VARIANT ALA-300 WITH SUSCEPTIBILITY TO IBD10. |
| [8] | "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: 17435756] [Abstract] Cited for: ASSOCIATION OF VARIANT ALA-300 WITH SUSCEPTIBILITY TO IBD10. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AY398617 mRNA. Translation: AAR32130.1. AY358182 mRNA. Translation: AAQ88549.1. AK026330 mRNA. Translation: BAB15448.1. Sequence problems. AK027854 mRNA. Translation: BAB55412.1. Different initiation. AK123876 mRNA. Translation: BAC85713.1. BC071846 mRNA. Translation: AAH71846.1. AL834526 mRNA. Translation: CAD39182.1. | |
| RefSeq | NP_110430.5. |
| UniGene | Hs.529322 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1ERJ based on UniProtKB P16649. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q676U5. |
Genome annotation databases | |
| Ensembl | ENSG00000085978. Homo sapiens. [Contig view] |
| GeneID | 55054. |
Organism-specific databases | |
| H-InvDB | HIX0002933. HIX0009913. |
| HGNC | HGNC:21498. ATG16L1. |
| HPA | HPA012577. |
| MIM | 610767. gene. 611081. phenotype. |
| PharmGKB | PA134902949. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOVERGEN | Q676U5. |
Gene expression databases | |
| ArrayExpress | Q676U5. |
| CleanEx | HS_ATG16L1. |
| GermOnline | ENSG00000085978. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR013923. Autophagy_prot_16. IPR015943. WD40/YVTN_repeat-like. IPR001680. WD40_repeat. [Graphical view] |
| Gene3D | G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 1 hit. |
| Pfam | PF08614. ATG16. 1 hit. PF00400. WD40. 6 hits. [Graphical view] |
| PRINTS | PR00320. GPROTEINBRPT. |
| ProDom | PD000018. WD40. 2 hits. [Graphical view] [Entries sharing at least one domain] |
| SMART | SM00320. WD40. 7 hits. [Graphical view] |
| PROSITE | PS00678. WD_REPEATS_1. 3 hits. PS50082. WD_REPEATS_2. 6 hits. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view] |
| BLOCKS | Search... |
Other Resources | |
| SOURCE | Search... |
| ProtoNet | Search... |
Entry information
| Entry name | A16L1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q676U5 Secondary accession number(s): Q6IPN1 Q9H619 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||

Clusters with