Code:
ID 3BP5L_HUMAN Reviewed; 393 AA.
AC Q7L8J4; Q96FI5; Q9BQH8; Q9C0E3;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 05-SEP-2012, entry version 71.
DE RecName: Full=SH3 domain-binding protein 5-like;
DE Short=SH3BP-5-like;
GN Name=SH3BP5L; Synonyms=KIAA1720; ORFNames=UNQ2766/PRO7133;
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].
RC TISSUE=Brain;
RX MEDLINE=21082932; PubMed=11214970; DOI=10.1093/dnares/7.6.347;
RA Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIX.
RT The complete sequences of 100 new cDNA clones from brain which code
RT for large proteins in vitro.";
RL DNA Res. 7:347-355(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Amygdala;
RX MEDLINE=21154917; PubMed=11230166; DOI=10.1101/gr.GR1547R;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H.,
RA Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N.,
RA Mewes H.-W., Ottenwaelder B., Obermaier B., Tampe J., Heubner D.,
RA Wambutt R., Korn B., Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and
RT analysis of 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX MEDLINE=22887296; PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S.,
RA Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
RA Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
RA Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
RA Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
RA Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
RA Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale
RT effort to identify novel human secreted and transmembrane proteins: a
RT bioinformatics assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
RA Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
RA Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
RA McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
RA Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
RA Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
RA Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
RA Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
RA Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
RA Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
RA Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
RA Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
RA Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
RA Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
RA Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
RA Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
RA Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
RA Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
RA Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
RA Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
RA Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
RA Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
RA Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
RA Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [6]
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Colon, and Lung;
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 [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-343; SER-350 AND
RP SER-362, AND MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-362, AND MASS
RP SPECTROMETRY.
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
CC -!- SIMILARITY: Belongs to the SH3BP5 family.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB21811.1; Type=Erroneous initiation;
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DR EMBL; AB051507; BAB21811.1; ALT_INIT; mRNA.
DR EMBL; AL136569; CAB66504.1; -; mRNA.
DR EMBL; AY358453; AAQ88818.1; -; mRNA.
DR EMBL; AK056382; BAB71171.1; -; mRNA.
DR EMBL; AL732583; CAI18798.1; -; Genomic_DNA.
DR EMBL; CH471257; EAW57534.1; -; Genomic_DNA.
DR EMBL; BC010871; AAH10871.1; -; mRNA.
DR EMBL; BC017254; AAH17254.1; -; mRNA.
DR IPI; IPI00028359; -.
DR RefSeq; NP_085148.1; NM_030645.1.
DR UniGene; Hs.298573; -.
DR ProteinModelPortal; Q7L8J4; -.
DR IntAct; Q7L8J4; 2.
DR MINT; MINT-1688351; -.
DR PhosphoSite; Q7L8J4; -.
DR DMDM; 74749902; -.
DR PRIDE; Q7L8J4; -.
DR Ensembl; ENST00000366472; ENSP00000355428; ENSG00000175137.
DR GeneID; 80851; -.
DR KEGG; hsa:80851; -.
DR UCSC; uc001iev.1; human.
DR CTD; 80851; -.
DR GeneCards; GC01M249104; -.
DR H-InvDB; HIX0160026; -.
DR HGNC; HGNC:29360; SH3BP5L.
DR HPA; HPA038068; -.
DR neXtProt; NX_Q7L8J4; -.
DR PharmGKB; PA142670923; -.
DR eggNOG; NOG263345; -.
DR GeneTree; ENSGT00390000018500; -.
DR HOGENOM; HOG000190360; -.
DR HOVERGEN; HBG057307; -.
DR InParanoid; Q7L8J4; -.
DR OMA; GVRGGRH; -.
DR OrthoDB; EOG4PZJ78; -.
DR GenomeRNAi; 80851; -.
DR NextBio; 71284; -.
DR ArrayExpress; Q7L8J4; -.
DR Bgee; Q7L8J4; -.
DR CleanEx; HS_SH3BP5L; -.
DR Genevestigator; Q7L8J4; -.
DR InterPro; IPR007940; SH3-bd_5.
DR PANTHER; PTHR19423; SH3_bd_5; 1.
DR Pfam; PF05276; SH3BP5; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Complete proteome; Phosphoprotein; Reference proteome.
FT CHAIN 1 393 SH3 domain-binding protein 5-like.
FT /FTId=PRO_0000317508.
FT COILED 59 140 Potential.
FT COILED 169 272 Potential.
FT COMPBIAS 37 40 Poly-Gly.
FT COMPBIAS 41 44 Poly-Ser.
FT COMPBIAS 52 55 Poly-Glu.
FT MOD_RES 343 343 Phosphoserine.
FT MOD_RES 350 350 Phosphoserine.
FT MOD_RES 362 362 Phosphoserine.
FT MOD_RES 378 378 Phosphoserine (By similarity).
SQ SEQUENCE 393 AA; 43499 MW; 3693431765F90FDC CRC64;
MAELRQVPGG RETPQGELRP EVVEDEVPRS PVAEEPGGGG SSSSEAKLSP REEEELDPRI
QEELEHLNQA SEEINQVELQ LDEARTTYRR ILQESARKLN TQGSHLGSCI EKARPYYEAR
RLAKEAQQET QKAALRYERA VSMHNAAREM VFVAEQGVMA DKNRLDPTWQ EMLNHATCKV
NEAEEERLRG EREHQRVTRL CQQAEARVQA LQKTLRRAIG KSRPYFELKA QFSQILEEHK
AKVTELEQQV AQAKTRYSVA LRNLEQISEQ IHARRRGGLP PHPLGPRRSS PVGAEAGPED
MEDGDSGIEG AEGAGLEEGS SLGPGPAPDT DTLSLLSLRT VASDLQKCDS VEHLRGLSDH
VSLDGQELGT RSGGRRGSDG GARGGRHQRS VSL
//
ID A16L1_HUMAN Reviewed; 607 AA.
AC Q676U5; A3EXK9; A3EXL0; B6ZDH0; Q6IPN1; Q6UXW4; Q6ZVZ5; Q8NCY2;
AC Q96JV5; Q9H619;
DT 12-APR-2005, integrated into UniProtKB/Swiss-Prot.
DT 12-APR-2005, sequence version 2.
DT 05-SEP-2012, entry version 92.
DE RecName: Full=Autophagy-related protein 16-1;
DE AltName: Full=APG16-like 1;
GN Name=ATG16L1; Synonyms=APG16L; ORFNames=UNQ9393/PRO34307;
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 [MRNA] (ISOFORM 1), AND VARIANT ALA-300.
RC TISSUE=Fetal brain;
RX PubMed=15620219; DOI=10.1080/10425170400004104;
RA Zheng H., Ji C., Li J., Jiang H., Ren M., Lu Q., Gu S., Mao Y.,
RA Xie Y.;
RT "Cloning and analysis of human Apg16L.";
RL DNA Seq. 15:303-305(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 5), AND ASSOCIATION OF
RP VARIANT ALA-300 WITH SUSCEPTIBILITY TO IBD10.
RX PubMed=17200669; DOI=10.1038/ng1954;
RA Hampe J., Franke A., Rosenstiel P., Till A., Teuber M., Huse K.,
RA Albrecht M., Mayr G., De La Vega F.M., Briggs J., Guenther S.,
RA Prescott N.J., Onnie C.M., Haesler R., Sipos B., Foelsch U.R.,
RA Lengauer T., Platzer M., Mathew C.G., Krawczak M., Schreiber S.;
RT "A genome-wide association scan of nonsynonymous SNPs identifies a
RT susceptibility variant for Crohn disease in ATG16L1.";
RL Nat. Genet. 39:207-211(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RX MEDLINE=22887296; PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S.,
RA Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
RA Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
RA Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
RA Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
RA Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
RA Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale
RT effort to identify novel human secreted and transmembrane proteins: a
RT bioinformatics assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 55-607 (ISOFORM 2).
RC TISSUE=Brain, Placenta, and Small intestine;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
RA Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
RA Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
RA Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
RA Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
RA Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
RA Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
RA Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
RA Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
RA Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
RA Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
RA Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
RA Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
RA Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
RA Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
RA Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
RA Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
RA Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
RA McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
RA Waterston R.H., Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2
RT and 4.";
RL Nature 434:724-731(2005).
RN [6]
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 114-607 (ISOFORM 2).
RC TISSUE=Mammary gland;
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 [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 513-607.
RC TISSUE=Testis;
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).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-287; SER-290 AND
RP SER-304, AND MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=17924679; DOI=10.1021/pr070152u;
RA Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D.;
RT "Improved titanium dioxide enrichment of phosphopeptides from HeLa
RT cells and high confident phosphopeptide identification by cross-
RT validation of MS/MS and MS/MS/MS spectra.";
RL J. Proteome Res. 6:4150-4162(2007).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-287, AND MASS
RP SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [11]
RP ASSOCIATION OF VARIANT ALA-300 WITH SUSCEPTIBILITY TO IBD10.
RX PubMed=17435756; DOI=10.1038/ng2032;
RA Rioux J.D., Xavier R.J., Taylor K.D., Silverberg M.S., Goyette P.,
RA Huett A., Green T., Kuballa P., Barmada M.M., Datta L.W.,
RA Shugart Y.Y., Griffiths A.M., Targan S.R., Ippoliti A.F.,
RA Bernard E.-J., Mei L., Nicolae D.L., Regueiro M., Schumm L.P.,
RA Steinhart A.H., Rotter J.I., Duerr R.H., Cho J.H., Daly M.J.,
RA Brant S.R.;
RT "Genome-wide association study identifies new susceptibility loci for
RT Crohn disease and implicates autophagy in disease pathogenesis.";
RL Nat. Genet. 39:596-604(2007).
CC -!- FUNCTION: Plays an essential role in autophagy (By similarity).
CC -!- SUBUNIT: Homooligomer. Interacts with ATG5. Part of either the
CC minor and major complexes respectively composed of 4 sets of
CC ATG12-ATG5 and ATG16L1 (400 kDa) or 8 sets of ATG12-ATG5 and
CC ATG16L1 (800 kDa) (By similarity).
CC -!- INTERACTION:
CC Q9GZQ8:MAP1LC3B; NbExp=2; IntAct=EBI-535909, EBI-373144;
CC Q9BXW4:MAP1LC3C; NbExp=4; IntAct=EBI-535909, EBI-2603996;
CC -!- SUBCELLULAR LOCATION: Cytoplasm (By similarity). Preautophagosomal
CC structure membrane; Peripheral membrane protein (By similarity).
CC Note=Localized to preautophagosomal structure (PAS) where it is
CC involved in the membrane targeting of ATG5 (By similarity).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1; Synonyms=APG16L beta;
CC IsoId=Q676U5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q676U5-2; Sequence=VSP_013386;
CC Note=May be produced at very low levels due to a premature stop
CC codon in the mRNA, leading to nonsense-mediated mRNA decay;
CC Name=3;
CC IsoId=Q676U5-3; Sequence=VSP_013387, VSP_013388;
CC Note=No experimental confirmation available;
CC Name=4;
CC IsoId=Q676U5-4; Sequence=VSP_013389, VSP_013390;
CC Note=No experimental confirmation available;
CC Name=5;
CC IsoId=Q676U5-5; Sequence=VSP_013389, VSP_013386;
CC Note=No experimental confirmation available;
CC -!- DISEASE: Genetic variations in ATG16L1 are associated with
CC susceptibility to inflammatory bowel disease type 10 (IBD10)
CC [MIM:611081]. IBD is characterized by a chronic relapsing
CC intestinal inflammation. IBD is subdivided into Crohn disease (CD)
CC and ulcerative colitis phenotypes. IBD10 individuals show the
CC phenotype characteristic to CD. It may involve any part of the
CC gastrointestinal tract, but most frequently the terminal ileum and
CC colon. CD is commonly classified as autoimmune disease.
CC -!- SIMILARITY: Belongs to the WD repeat ATG16 family.
CC -!- SIMILARITY: Contains 7 WD repeats.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB15448.1; Type=Erroneous translation; Note=Wrong choice of CDS;
CC Sequence=BAB55412.1; Type=Erroneous initiation;
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DR EMBL; AY398617; AAR32130.1; -; mRNA.
DR EMBL; EF079889; ABN48554.1; -; mRNA.
DR EMBL; EF079890; ABN48555.1; -; mRNA.
DR EMBL; AY358182; AAQ88549.1; -; mRNA.
DR EMBL; AK026330; BAB15448.1; ALT_SEQ; mRNA.
DR EMBL; AK027854; BAB55412.1; ALT_INIT; mRNA.
DR EMBL; AK123876; BAC85713.1; -; mRNA.
DR EMBL; AC013726; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471063; EAW71034.1; -; Genomic_DNA.
DR EMBL; BC071846; AAH71846.1; -; mRNA.
DR EMBL; AL834526; CAD39182.1; -; mRNA.
DR IPI; IPI00432751; -.
DR IPI; IPI00446614; -.
DR IPI; IPI00470446; -.
DR IPI; IPI00555905; -.
DR IPI; IPI00797150; -.
DR RefSeq; NP_001177195.1; NM_001190266.1.
DR RefSeq; NP_001177196.1; NM_001190267.1.
DR RefSeq; NP_060444.3; NM_017974.3.
DR RefSeq; NP_110430.5; NM_030803.6.
DR RefSeq; NP_942593.2; NM_198890.2.
DR UniGene; Hs.529322; -.
DR ProteinModelPortal; Q676U5; -.
DR SMR; Q676U5; 310-606.
DR DIP; DIP-27552N; -.
DR IntAct; Q676U5; 20.
DR MINT; MINT-1141152; -.
DR STRING; Q676U5; -.
DR PhosphoSite; Q676U5; -.
DR DMDM; 62510482; -.
DR PRIDE; Q676U5; -.
DR DNASU; 55054; -.
DR Ensembl; ENST00000347464; ENSP00000318259; ENSG00000085978.
DR Ensembl; ENST00000373525; ENSP00000362625; ENSG00000085978.
DR Ensembl; ENST00000392017; ENSP00000375872; ENSG00000085978.
DR Ensembl; ENST00000392020; ENSP00000375875; ENSG00000085978.
DR GeneID; 55054; -.
DR KEGG; hsa:55054; -.
DR UCSC; uc002vty.3; human.
DR UCSC; uc002vtz.3; human.
DR UCSC; uc002vua.3; human.
DR CTD; 55054; -.
DR GeneCards; GC02P234118; -.
DR HGNC; HGNC:21498; ATG16L1.
DR HPA; HPA012577; -.
DR MIM; 610767; gene.
DR MIM; 611081; phenotype.
DR neXtProt; NX_Q676U5; -.
DR Orphanet; 206; Crohn disease.
DR PharmGKB; PA134902949; -.
DR eggNOG; COG2319; -.
DR GeneTree; ENSGT00670000097918; -.
DR HOGENOM; HOG000112569; -.
DR HOVERGEN; HBG050534; -.
DR OrthoDB; EOG4SXNC8; -.
DR GenomeRNAi; 55054; -.
DR NextBio; 58531; -.
DR ArrayExpress; Q676U5; -.
DR Bgee; Q676U5; -.
DR CleanEx; HS_ATG16L1; -.
DR Genevestigator; Q676U5; -.
DR GermOnline; ENSG00000085978; Homo sapiens.
DR GO; GO:0005776; C:autophagic vacuole; ISS:UniProtKB.
DR GO; GO:0034045; C:pre-autophagosomal structure membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0000045; P:autophagic vacuole assembly; NAS:UniProtKB.
DR GO; GO:0051260; P:protein homooligomerization; NAS:UniProtKB.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR Gene3D; G3DSA:2.130.10.10; WD40/YVTN_repeat-like; 2.
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; 5.
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; 6.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Autophagy; Coiled coil; Complete proteome;
KW Cytoplasm; Membrane; Phosphoprotein; Polymorphism; Protein transport;
KW Reference proteome; Repeat; Transport; WD repeat.
FT CHAIN 1 607 Autophagy-related protein 16-1.
FT /FTId=PRO_0000050848.
FT REPEAT 320 359 WD 1.
FT REPEAT 364 403 WD 2.
FT REPEAT 406 445 WD 3.
FT REPEAT 447 484 WD 4.
FT REPEAT 486 525 WD 5.
FT REPEAT 532 573 WD 6.
FT REPEAT 575 607 WD 7.
FT COILED 78 230 Potential.
FT MOD_RES 287 287 Phosphoserine.
FT MOD_RES 289 289 Phosphoserine (By similarity).
FT MOD_RES 290 290 Phosphoserine.
FT MOD_RES 304 304 Phosphoserine.
FT VAR_SEQ 70 213 Missing (in isoform 4 and isoform 5).
FT /FTId=VSP_013389.
FT VAR_SEQ 266 284 Missing (in isoform 2 and isoform 5).
FT /FTId=VSP_013386.
FT VAR_SEQ 334 368 Missing (in isoform 4).
FT /FTId=VSP_013390.
FT VAR_SEQ 443 470 IKTVFAGSSCNDIVCTEQCVMSGHFDKK -> EEIQSLCLC
FT ICLDVSVEVCVCTSEPAFM (in isoform 3).
FT /FTId=VSP_013387.
FT VAR_SEQ 471 607 Missing (in isoform 3).
FT /FTId=VSP_013388.
FT VARIANT 300 300 T -> A (associated with susceptibility to
FT IBD10; dbSNP:rs2241880).
FT /FTId=VAR_021834.
FT VARIANT 307 307 E -> K (in dbSNP:rs1866878).
FT /FTId=VAR_053386.
FT CONFLICT 151 151 K -> R (in Ref. 6; BAB55412).
FT CONFLICT 328 328 V -> A (in Ref. 6; BAB55412).
FT CONFLICT 529 529 P -> T (in Ref. 6; BAB55412).
SQ SEQUENCE 607 AA; 68265 MW; 5A5816AE2CF03CA0 CRC64;
MSSGLRAADF PRWKRHISEQ LRRRDRLQRQ AFEEIILQYN KLLEKSDLHS VLAQKLQAEK
HDVPNRHEIS PGHDGTWNDN QLQEMAQLRI KHQEELTELH KKRGELAQLV IDLNNQMQRK
DREMQMNEAK IAECLQTISD LETECLDLRT KLCDLERANQ TLKDEYDALQ ITFTALEGKL
RKTTEENQEL VTRWMAEKAQ EANRLNAENE KDSRRRQARL QKELAEAAKE PLPVEQDDDI
EVIVDETSDH TEETSPVRAI SRAATKRLSQ PAGGLLDSIT NIFGRRSVSS FPVPQDNVDT
HPGSGKEVRV PATALCVFDA HDGEVNAVQF SPGSRLLATG GMDRRVKLWE VFGEKCEFKG
SLSGSNAGIT SIEFDSAGSY LLAASNDFAS RIWTVDDYRL RHTLTGHSGK VLSAKFLLDN
ARIVSGSHDR TLKLWDLRSK VCIKTVFAGS SCNDIVCTEQ CVMSGHFDKK IRFWDIRSES
IVREMELLGK ITALDLNPER TELLSCSRDD LLKVIDLRTN AIKQTFSAPG FKCGSDWTRV
VFSPDGSYVA AGSAEGSLYI WSVLTGKVEK VLSKQHSSSI NAVAWSPSGS HVVSVDKGCK
AVLWAQY
//