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UniProtKB/Swiss-Prot entry Q676U5


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name A16L1_HUMAN
Primary accession number Q676U5
Secondary accession numbers Q6IPN1 Q6UXW4 Q6ZVZ5 Q8NCY2 Q96JV5 Q9H619
Integrated into Swiss-Prot on April 12, 2005
Sequence was last modified on April 12, 2005 (Sequence version 2)
Annotations were last modified on    June 10, 2008 (Entry version 49)
Name and origin of the protein
Protein name Autophagy-related protein 16-1
Synonym APG16-like 1
Gene name
Name: ATG16L1
Synonyms: APG16L
ORFNames: UNQ9393/PRO34307
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT ALA-300.
TISSUE=Fetal brain;
DOI=10.1080/10425170400004104; PubMed=15620219 [NCBI, ExPASy, EBI, Israel, Japan]
Zheng H., Ji C., Li J., Jiang H., Ren M., Lu Q., Gu S., Mao Y., Xie Y.;
"Cloning and analysis of human Apg16L.";
DNA Seq. 15:303-305(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
DOI=10.1101/gr.1293003; PubMed=12975309 [NCBI, ExPASy, EBI, Israel, Japan]
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., Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.";
Genome Res. 13:2265-2270(2003).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 5), AND NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 55-607 (ISOFORM 2).
TISSUE=Brain, Placenta, and Small intestine;
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
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., Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 114-607 (ISOFORM 2).
TISSUE=Mammary gland;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 513-607.
TISSUE=Testis;
The German cDNA consortium;
Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases.
[6]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-287; SER-290 AND SER-304, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1021/pr070152u; PubMed=17924679 [NCBI, ExPASy, EBI, Israel, Japan]
Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D.;
"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.";
J. Proteome Res. 6:4150-4162(2007).
[7]
ASSOCIATION OF VARIANT ALA-300 WITH SUSCEPTIBILITY TO IBD10.
DOI=10.1038/ng1954; PubMed=17200669 [NCBI, ExPASy, EBI, Israel, Japan]
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., Mathew C.G., Krawczak M., Schreiber S.;
"A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1.";
Nat. Genet. 39:207-211(2007).
[8]
ASSOCIATION OF VARIANT ALA-300 WITH SUSCEPTIBILITY TO IBD10.
DOI=10.1038/ng2032; PubMed=17435756 [NCBI, ExPASy, EBI, Israel, Japan]
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., Schumm L.P., Steinhart A.H., Rotter J.I., Duerr R.H., Cho J.H., Daly M.J., Brant S.R.;
"Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.";
Nat. Genet. 39:596-604(2007).
Comments
  • FUNCTION: Plays an essential role in autophagy (By similarity).
  • SUBUNIT: 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).
  • INTERACTION:
    O94817:ATG12; NbExp=1; IntAct=EBI-535909, EBI-746742;
  • 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).
  • ALTERNATIVE PRODUCTS: 5 named isoforms [FASTA] produced by alternative splicing.
    Name1
    SynonymsAPG16L beta
    Isoform IDQ676U5-1
    This is the isoform sequence displayed in this entry.
    Name2
    Isoform IDQ676U5-2
    Note: No experimental confirmation available.
    Features which should be applied to build the isoform sequence: VSP_013386.
    Name3
    Isoform IDQ676U5-3
    Note: No experimental confirmation available.
    Features which should be applied to build the isoform sequence: VSP_013387, VSP_013388.
    Name4
    Isoform IDQ676U5-4
    Note: No experimental confirmation available.
    Features which should be applied to build the isoform sequence: VSP_013389, VSP_013390.
    Name5
    Isoform IDQ676U5-5
    Note: No experimental confirmation available.
    Features which should be applied to build the isoform sequence: VSP_013384, VSP_013385.
  • 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.
  • SIMILARITY: Belongs to the WD repeat ATG16 family.
  • SIMILARITY: Contains 7 WD repeats.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AY398617; AAR32130.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AY358182; AAQ88549.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK026330; BAB15448.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK027854; BAB55412.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK123876; BAC85713.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC071846; AAH71846.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL834526; CAD39182.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_110430.5; -.
UniGene Hs.529322
3D structure databases
HSSP P16649; 1ERJ. [HSSP ENTRY / PDB]
ModBase Q676U5.
Protein-protein interaction databases
IntAct Q676U5; -.
PTM databases
PhosphoSite Q676U5; -.
Organism-specific databases
H-InvDB HIX0002933; -.
HIX0009913; -.
HGNC HGNC:21498; ATG16L1.
GeneLynx ATG16L1; Homo sapiens.
GenAtlas ATG16L1.
MIM 610767; gene. [NCBI / EBI]
611081; phenotype. [NCBI / EBI]
PharmGKB PA134902949; -.
GeneCards Q676U5.
Gene expression databases
ArrayExpress Q676U5; -.
CleanEx HS_ATG16L1; -.
GermOnline ENSG00000085978; Homo sapiens.
Ontologies
GO
GO:0005515; Molecular function: protein binding (inferred from physical interaction from IntAct).
QuickGo view.
Family and domain databases
InterPro IPR013923; Autophagy_prot_16.
IPR015943; WD40/YVTN_repeat-like.
IPR001680; WD40_repeat.
Graphical view of domain structure.
Gene3D G3DSA:2.130.10.10; WD40/YVTN_repeat-like; 1.
Pfam PF08614; ATG16; 1.
PF00400; WD40; 6.
Pfam graphical view of domain structure.
PRINTS PR00320; GPROTEINBRPT.
ProDom PD000018; WD40; 2.
[Domain structure / List of seq. sharing at least 1 domain]
SMART SM00320; WD40; 7.
SMART graphical view of domain structure.
PROSITE PS00678; WD_REPEATS_1; 3.
PS50082; WD_REPEATS_2; 6.
PS50294; WD_REPEATS_REGION; 1.
PROSITE graphical view of domain structure (profiles).
BLOCKS Q676U5.
Genome annotation databases
Ensembl ENSG00000085978; Homo sapiens. [Contig view]
GeneID 55054; -.
Phylogenomic databases
HOVERGEN Q676U5; -.
Other
SOURCE ATG16L1; Homo sapiens.
ProtoNet Q676U5.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; Autophagy; Coiled coil; Cytoplasm; Membrane; Phosphoprotein; Polymorphism; Protein transport; Repeat; Transport; WD repeat.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   607  607     Autophagy-related protein 16-1. PRO_0000050848
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   78   230  153     Potential. 
MOD_RES   287   287        Phosphoserine. 
MOD_RES   289   289        Phosphoserine (By similarity). 
MOD_RES   290   290        Phosphoserine. 
MOD_RES   304   304        Phosphoserine. 
VAR_SEQ   1   434        Missing (in isoform 5). VSP_013384
VAR_SEQ   70   213        Missing (in isoform 4). VSP_013389
VAR_SEQ   266   284        Missing (in isoform 2). VSP_013386
VAR_SEQ   334   368        Missing (in isoform 4). VSP_013390
VAR_SEQ   435   442        WDLRSKVC -> MMFAFLSG (in isoform 5). VSP_013385
VAR_SEQ   443   470        IKTVFAGSSCNDIVCTEQCVMSGHFDKK -> EEIQSLCLCICLDVSVEVCVCTSEPAFM (in isoform 3). VSP_013387
VAR_SEQ   471   607        Missing (in isoform 3). VSP_013388
VARIANT   300   300  1     T -> A (associated with susceptibility to IBD10; dbSNP:rs2241880 [NCBI]). VAR_021834 
CONFLICT   151   151        K -> R (in Ref. 3; BAB55412). 
CONFLICT   328   328        V -> A (in Ref. 3; BAB55412). 
CONFLICT   529   529        P -> T (in Ref. 3; BAB55412). 
Sequence information
Length: 607 AA [This is the length of the unprocessed precursor] Molecular weight: 68265 Da [This is the MW of the unprocessed precursor] CRC64: 5A5816AE2CF03CA0 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MSSGLRAADF PRWKRHISEQ LRRRDRLQRQ AFEEIILQYN KLLEKSDLHS VLAQKLQAEK 

        70         80         90        100        110        120 
HDVPNRHEIS PGHDGTWNDN QLQEMAQLRI KHQEELTELH KKRGELAQLV IDLNNQMQRK 

       130        140        150        160        170        180 
DREMQMNEAK IAECLQTISD LETECLDLRT KLCDLERANQ TLKDEYDALQ ITFTALEGKL 

       190        200        210        220        230        240 
RKTTEENQEL VTRWMAEKAQ EANRLNAENE KDSRRRQARL QKELAEAAKE PLPVEQDDDI 

       250        260        270        280        290        300 
EVIVDETSDH TEETSPVRAI SRAATKRLSQ PAGGLLDSIT NIFGRRSVSS FPVPQDNVDT 

       310        320        330        340        350        360 
HPGSGKEVRV PATALCVFDA HDGEVNAVQF SPGSRLLATG GMDRRVKLWE VFGEKCEFKG 

       370        380        390        400        410        420 
SLSGSNAGIT SIEFDSAGSY LLAASNDFAS RIWTVDDYRL RHTLTGHSGK VLSAKFLLDN 

       430        440        450        460        470        480 
ARIVSGSHDR TLKLWDLRSK VCIKTVFAGS SCNDIVCTEQ CVMSGHFDKK IRFWDIRSES 

       490        500        510        520        530        540 
IVREMELLGK ITALDLNPER TELLSCSRDD LLKVIDLRTN AIKQTFSAPG FKCGSDWTRV 

       550        560        570        580        590        600 
VFSPDGSYVA AGSAEGSLYI WSVLTGKVEK VLSKQHSSSI NAVAWSPSGS HVVSVDKGCK 


AVLWAQY 

Q676U5 in FASTA format

View entry in original UniProtKB/Swiss-Prot format
View entry in raw text format (no links)
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