K0513_HUMAN
ID K0513_HUMAN Reviewed; 411 AA.
AC O60268; B4DSS5; D3DUM2; Q8N6G0;
DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT 01-AUG-1998, sequence version 1.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=Uncharacterized protein KIAA0513;
GN Name=KIAA0513;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=9628581; DOI=10.1093/dnares/5.1.31;
RA Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N.,
RA Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. IX. The
RT complete sequences of 100 new cDNA clones from brain which can code for
RT large proteins in vitro.";
RL DNA Res. 5:31-39(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Brain;
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., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., 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., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA 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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Blood;
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP TISSUE SPECIFICITY, AND SUBCELLULAR LOCATION.
RX PubMed=17010949; DOI=10.1016/j.brainres.2006.08.099;
RA Lauriat T.L., Dracheva S., Kremerskothen J., Duning K., Haroutunian V.,
RA Buxbaum J.D., Hyde T.M., Kleinman J.E., McInnes L.A.;
RT "Characterization of KIAA0513, a novel signaling molecule that interacts
RT with modulators of neuroplasticity, apoptosis, and the cytoskeleton.";
RL Brain Res. 1121:1-11(2006).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:17010949}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=O60268-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O60268-2; Sequence=VSP_011551;
CC Name=3;
CC IsoId=O60268-3; Sequence=VSP_054680;
CC -!- TISSUE SPECIFICITY: Widely expressed, highest levels in cerebellum,
CC brain cortex, hippocampus, pons, putamen and amygdala. Highly expressed
CC in neurons, but also present in glial cells. Slightly higher expression
CC in the dorsolateral prefrontal cortex of schizophrenic patients
CC compared to control individuals. {ECO:0000269|PubMed:17010949}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA25439.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB011085; BAA25439.2; ALT_INIT; mRNA.
DR EMBL; AK299892; BAG61737.1; -; mRNA.
DR EMBL; AC026469; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC092341; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471114; EAW95460.1; -; Genomic_DNA.
DR EMBL; CH471114; EAW95462.1; -; Genomic_DNA.
DR EMBL; BC030280; AAH30280.1; -; mRNA.
DR CCDS; CCDS32499.1; -. [O60268-1]
DR CCDS; CCDS67091.1; -. [O60268-3]
DR CCDS; CCDS73919.1; -. [O60268-2]
DR RefSeq; NP_001273494.1; NM_001286565.1. [O60268-1]
DR RefSeq; NP_001273495.1; NM_001286566.1. [O60268-3]
DR RefSeq; NP_001284695.1; NM_001297766.1. [O60268-2]
DR RefSeq; NP_055547.1; NM_014732.3. [O60268-1]
DR RefSeq; XP_005256322.1; XM_005256265.3. [O60268-1]
DR RefSeq; XP_016879401.1; XM_017023912.1. [O60268-1]
DR AlphaFoldDB; O60268; -.
DR BioGRID; 115110; 4.
DR IntAct; O60268; 3.
DR MINT; O60268; -.
DR STRING; 9606.ENSP00000457408; -.
DR iPTMnet; O60268; -.
DR PhosphoSitePlus; O60268; -.
DR BioMuta; KIAA0513; -.
DR EPD; O60268; -.
DR jPOST; O60268; -.
DR MassIVE; O60268; -.
DR MaxQB; O60268; -.
DR PaxDb; O60268; -.
DR PeptideAtlas; O60268; -.
DR PRIDE; O60268; -.
DR ProteomicsDB; 49299; -. [O60268-1]
DR ProteomicsDB; 49300; -. [O60268-2]
DR ProteomicsDB; 5046; -.
DR Antibodypedia; 2867; 113 antibodies from 20 providers.
DR DNASU; 9764; -.
DR Ensembl; ENST00000538274.6; ENSP00000446439.1; ENSG00000135709.14. [O60268-3]
DR Ensembl; ENST00000566428.5; ENSP00000457408.1; ENSG00000135709.14. [O60268-1]
DR Ensembl; ENST00000567328.6; ENSP00000455544.1; ENSG00000135709.14. [O60268-2]
DR Ensembl; ENST00000683363.1; ENSP00000507772.1; ENSG00000135709.14. [O60268-1]
DR GeneID; 9764; -.
DR KEGG; hsa:9764; -.
DR MANE-Select; ENST00000683363.1; ENSP00000507772.1; NM_001388359.1; NP_001375288.1.
DR UCSC; uc002fiu.5; human. [O60268-1]
DR CTD; 9764; -.
DR DisGeNET; 9764; -.
DR GeneCards; KIAA0513; -.
DR HGNC; HGNC:29058; KIAA0513.
DR HPA; ENSG00000135709; Tissue enhanced (brain).
DR MIM; 611675; gene.
DR neXtProt; NX_O60268; -.
DR OpenTargets; ENSG00000135709; -.
DR PharmGKB; PA134951520; -.
DR VEuPathDB; HostDB:ENSG00000135709; -.
DR eggNOG; ENOG502QV4D; Eukaryota.
DR GeneTree; ENSGT00390000009535; -.
DR HOGENOM; CLU_059866_0_0_1; -.
DR InParanoid; O60268; -.
DR OMA; VREKWCH; -.
DR OrthoDB; 1417808at2759; -.
DR PhylomeDB; O60268; -.
DR TreeFam; TF325884; -.
DR PathwayCommons; O60268; -.
DR SignaLink; O60268; -.
DR BioGRID-ORCS; 9764; 14 hits in 1082 CRISPR screens.
DR ChiTaRS; KIAA0513; human.
DR GenomeRNAi; 9764; -.
DR Pharos; O60268; Tdark.
DR PRO; PR:O60268; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; O60268; protein.
DR Bgee; ENSG00000135709; Expressed in cerebellar vermis and 195 other tissues.
DR ExpressionAtlas; O60268; baseline and differential.
DR Genevisible; O60268; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR InterPro; IPR039872; KIAA0513.
DR PANTHER; PTHR13663; PTHR13663; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Phosphoprotein; Reference proteome.
FT CHAIN 1..411
FT /note="Uncharacterized protein KIAA0513"
FT /id="PRO_0000050757"
FT REGION 1..91
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 253..280
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 71..89
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 254..280
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 279
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8R0A7"
FT VAR_SEQ 302..411
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_011551"
FT VAR_SEQ 327..336
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054680"
FT VARIANT 100
FT /note="R -> H (in dbSNP:rs4783121)"
FT /id="VAR_034035"
SQ SEQUENCE 411 AA; 46639 MW; AB2B23486452B988 CRC64;
METPEVPVGS LIDFGPEAPT SSPLEAPPPV LQDGDGSLGD GASESETTES ADSENDMGES
PSHPSWDQDR RSSSNESFSS NQSTESTQDE ETLALRDFMR GYVEKIFSGG EDLDQEEKAK
FGEYCSSENG KGREWFARYV SAQRCNSKCV SEATFYRLVQ SFAVVLFECH QMDDFGPAKN
LMTMCFTYYH IGKPQLLPPE SREKPAGSID SYLKSANSWL AEKKDIAERL LKNTSARTEN
VKGFFGGLET KLKGPLARRN EEDENKPQEK RPRAVTAYSP EDEKKGEKIY LYTHLKQQPI
WHTLRFWNAA FFDAVHCERT KRSPTTRGDA GEEEEKREKW CHMTQEERDD SLRFNENITF
GQLGTFTHNM LAFGLNKKLC NDFLKKQAVI GNLDEEQYKL LSDHIEQMAT E
