Code:
ID A16L2_HUMAN Reviewed; 619 AA.
AC Q8NAA4; A5PL30; B2RPK5; Q658V4; Q6PID3; Q8NBG0;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-MAY-2008, sequence version 2.
DT 05-SEP-2012, entry version 77.
DE RecName: Full=Autophagy-related protein 16-2;
DE AltName: Full=APG16-like 2;
DE AltName: Full=WD repeat-containing protein 80;
GN Name=ATG16L2; Synonyms=WDR80;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Astrocyte, and Spleen;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC TISSUE=Eye;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 297-619.
RC TISSUE=Stomach;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
CC -!- FUNCTION: May play a role in autophagy (By similarity).
CC -!- SUBCELLULAR LOCATION: Cytoplasm (By similarity).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8NAA4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NAA4-2; Sequence=VSP_033904;
CC Note=No experimental confirmation available;
CC Name=3;
CC IsoId=Q8NAA4-3; Sequence=VSP_033905;
CC Note=No experimental confirmation available;
CC -!- SIMILARITY: Belongs to the WD repeat ATG16 family.
CC -!- SIMILARITY: Contains 7 WD repeats.
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DR EMBL; AK093017; BAC04021.1; -; mRNA.
DR EMBL; AK090597; BAC03485.1; -; mRNA.
DR EMBL; CH471076; EAW74876.1; -; Genomic_DNA.
DR EMBL; CH471076; EAW74874.1; -; Genomic_DNA.
DR EMBL; BC036713; AAH36713.1; -; mRNA.
DR EMBL; BC137489; AAI37490.1; -; mRNA.
DR EMBL; BC137490; AAI37491.1; -; mRNA.
DR EMBL; BC142718; AAI42719.1; -; mRNA.
DR EMBL; BC146660; AAI46661.1; -; mRNA.
DR EMBL; AL832974; CAH56355.1; -; mRNA.
DR IPI; IPI00300536; -.
DR IPI; IPI00892538; -.
DR IPI; IPI00892678; -.
DR RefSeq; NP_203746.1; NM_033388.1.
DR UniGene; Hs.653186; -.
DR ProteinModelPortal; Q8NAA4; -.
DR SMR; Q8NAA4; 327-619.
DR IntAct; Q8NAA4; 3.
DR PhosphoSite; Q8NAA4; -.
DR DMDM; 189027648; -.
DR PRIDE; Q8NAA4; -.
DR Ensembl; ENST00000321297; ENSP00000326340; ENSG00000168010.
DR GeneID; 89849; -.
DR KEGG; hsa:89849; -.
DR UCSC; uc001otd.3; human.
DR CTD; 89849; -.
DR GeneCards; GC11P072525; -.
DR H-InvDB; HIX0009913; -.
DR HGNC; HGNC:25464; ATG16L2.
DR neXtProt; NX_Q8NAA4; -.
DR PharmGKB; PA142672575; -.
DR eggNOG; COG2319; -.
DR GeneTree; ENSGT00670000097918; -.
DR HOGENOM; HOG000112569; -.
DR HOVERGEN; HBG050534; -.
DR InParanoid; Q8NAA4; -.
DR OrthoDB; EOG44F68R; -.
DR PhylomeDB; Q8NAA4; -.
DR GenomeRNAi; 89849; -.
DR NextBio; 76342; -.
DR ArrayExpress; Q8NAA4; -.
DR Bgee; Q8NAA4; -.
DR CleanEx; HS_ATG16L2; -.
DR Genevestigator; Q8NAA4; -.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0006914; P:autophagy; IEA:UniProtKB-KW.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR Gene3D; G3DSA:2.130.10.10; WD40/YVTN_repeat-like; 1.
DR InterPro; IPR013923; Autophagy-rel_prot_16.
DR InterPro; IPR020472; G-protein_beta_WD-40_rep.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR019775; WD40_repeat_CS.
DR InterPro; IPR017986; WD40_repeat_dom.
DR Pfam; PF08614; ATG16; 1.
DR Pfam; PF00400; WD40; 4.
DR PRINTS; PR00320; GPROTEINBRPT.
DR SMART; SM00320; WD40; 7.
DR SUPFAM; SSF50978; WD40_like; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 3.
DR PROSITE; PS50082; WD_REPEATS_2; 4.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Autophagy; Coiled coil; Complete proteome;
KW Cytoplasm; Polymorphism; Protein transport; Reference proteome;
KW Repeat; Transport; WD repeat.
FT CHAIN 1 619 Autophagy-related protein 16-2.
FT /FTId=PRO_0000337110.
FT REPEAT 334 373 WD 1.
FT REPEAT 378 417 WD 2.
FT REPEAT 420 454 WD 3.
FT REPEAT 455 498 WD 4.
FT REPEAT 500 539 WD 5.
FT REPEAT 546 585 WD 6.
FT REPEAT 589 619 WD 7.
FT COILED 116 227 Potential.
FT VAR_SEQ 1 106 Missing (in isoform 2).
FT /FTId=VSP_033904.
FT VAR_SEQ 276 619 Missing (in isoform 3).
FT /FTId=VSP_033905.
FT VARIANT 220 220 R -> W (in dbSNP:rs11235604).
FT /FTId=VAR_043605.
FT CONFLICT 124 124 E -> G (in Ref. 1; BAC03485).
FT CONFLICT 256 256 A -> V (in Ref. 3; AAH36713).
FT CONFLICT 343 343 R -> G (in Ref. 1; BAC03485).
FT CONFLICT 492 492 G -> E (in Ref. 1; BAC04021).
FT CONFLICT 508 508 L -> R (in Ref. 4; CAH56355).
SQ SEQUENCE 619 AA; 68998 MW; 7F2962AA3C6BB850 CRC64;
MAGPGVPGAP AARWKRHIVR QLRLRDRTQK ALFLELVPAY NHLLEKAELL DKFSKKLQPE
PNSVTPTTHQ GPWEESELDS DQVPSLVALR VKWQEEEEGL RLVCGEMAYQ VVEKGAALGT
LESELQQRQS RLAALEARVA QLREARAQQA QQVEEWRAQN AVQRAAYEAL RAHVGLREAA
LRRLQEEARD LLERLVQRKA RAAAERNLRN ERRERAKQAR VSQELKKAAK RTVSISEGPD
TLGDGMRERR ETLALAPEPE PLEKEACEKW KRPFRSASAT SLTLSHCVDV VKGLLDFKKR
RGHSIGGAPE QRYQIIPVCV AARLPTRAQD VLDAHLSEVN AVRFGPNSSL LATGGADRLI
HLWNVVGSRL EANQTLEGAG GSITSVDFDP SGYQVLAATY NQAAQLWKVG EAQSKETLSG
HKDKVTAAKF KLTRHQAVTG SRDRTVKEWD LGRAYCSRTI NVLSYCNDVV CGDHIIISGH
NDQKIRFWDS RGPHCTQVIP VQGRVTSLSL SHDQLHLLSC SRDNTLKVID LRVSNIRQVF
RADGFKCGSD WTKAVFSPDR SYALAGSCDG ALYIWDVDTG KLESRLQGPH CAAVNAVAWC
YSGSHMVSVD QGRKVVLWQ
//
