Full text data of VPS13C
VPS13C
(KIAA1421)
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
Vacuolar protein sorting-associated protein 13C
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Vacuolar protein sorting-associated protein 13C
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
Q709C8
ID VP13C_HUMAN Reviewed; 3753 AA.
AC Q709C8; Q6ISR4; Q702P2; Q702P3; Q709C9; Q9NXN8; Q9P2C6;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
read moreDT 05-JUL-2004, sequence version 1.
DT 22-JAN-2014, entry version 76.
DE RecName: Full=Vacuolar protein sorting-associated protein 13C;
GN Name=VPS13C; Synonyms=KIAA1421;
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] (ISOFORMS 1; 2; 3 AND 4), AND TISSUE
RP SPECIFICITY.
RC TISSUE=Lymphoblast;
RX PubMed=15498460; DOI=10.1016/j.ygeno.2004.04.012;
RA Velayos-Baeza A., Vettori A., Copley R.R., Dobson-Stone C.,
RA Monaco A.P.;
RT "Analysis of the human VPS13 gene family.";
RL Genomics 84:536-549(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1439 (ISOFORMS 1/2), AND
RP VARIANT LYS-974.
RC TISSUE=Brain;
RX PubMed=10718198; DOI=10.1093/dnares/7.1.65;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVI.
RT The complete sequences of 150 new cDNA clones from brain which code
RT for large proteins in vitro.";
RL DNA Res. 7:65-73(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3305-3753 (ISOFORMS 1/3).
RC TISSUE=Colon;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3305-3753 (ISOFORMS 1/3).
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 [5]
RP UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-2357, AND MASS
RP SPECTROMETRY.
RC TISSUE=Mammary cancer;
RX PubMed=17370265; DOI=10.1002/pmic.200600410;
RA Denis N.J., Vasilescu J., Lambert J.-P., Smith J.C., Figeys D.;
RT "Tryptic digestion of ubiquitin standards reveals an improved strategy
RT for identifying ubiquitinated proteins by mass spectrometry.";
RL Proteomics 7:868-874(2007).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-614; SER-619; THR-624
RP AND SER-737, AND MASS 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).
RN [8]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-3538, AND MASS SPECTROMETRY.
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M.,
RA Walther T.C., Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1; Synonyms=2A;
CC IsoId=Q709C8-1; Sequence=Displayed;
CC Name=2; Synonyms=2B;
CC IsoId=Q709C8-2; Sequence=VSP_052244, VSP_052245;
CC Name=3; Synonyms=1A;
CC IsoId=Q709C8-3; Sequence=VSP_052243;
CC Name=4; Synonyms=1B;
CC IsoId=Q709C8-4; Sequence=VSP_052243, VSP_052244, VSP_052245;
CC -!- TISSUE SPECIFICITY: Widely expressed.
CC -!- SIMILARITY: Belongs to the VPS13 family.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA90972.1; Type=Erroneous initiation;
CC Sequence=BAA92659.1; Type=Erroneous initiation;
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DR EMBL; AJ608770; CAE75582.1; -; mRNA.
DR EMBL; AJ608771; CAE75583.1; -; mRNA.
DR EMBL; AJ626860; CAF25187.1; -; mRNA.
DR EMBL; AJ626861; CAF25188.1; -; mRNA.
DR EMBL; AB037842; BAA92659.1; ALT_INIT; mRNA.
DR EMBL; AK000143; BAA90972.1; ALT_INIT; mRNA.
DR EMBL; BC069387; AAH69387.1; -; mRNA.
DR RefSeq; NP_001018098.1; NM_001018088.2.
DR RefSeq; NP_060154.3; NM_017684.4.
DR RefSeq; NP_060550.2; NM_018080.3.
DR RefSeq; NP_065872.1; NM_020821.2.
DR UniGene; Hs.511668; -.
DR ProteinModelPortal; Q709C8; -.
DR IntAct; Q709C8; 2.
DR STRING; 9606.ENSP00000261517; -.
DR PhosphoSite; Q709C8; -.
DR DMDM; 74712594; -.
DR PaxDb; Q709C8; -.
DR PRIDE; Q709C8; -.
DR Ensembl; ENST00000249837; ENSP00000249837; ENSG00000129003.
DR Ensembl; ENST00000261517; ENSP00000261517; ENSG00000129003.
DR Ensembl; ENST00000395896; ENSP00000379233; ENSG00000129003.
DR Ensembl; ENST00000395898; ENSP00000379235; ENSG00000129003.
DR GeneID; 54832; -.
DR KEGG; hsa:54832; -.
DR UCSC; uc002agz.3; human.
DR CTD; 54832; -.
DR GeneCards; GC15M062144; -.
DR HGNC; HGNC:23594; VPS13C.
DR HPA; HPA043356; -.
DR HPA; HPA043507; -.
DR MIM; 608879; gene.
DR neXtProt; NX_Q709C8; -.
DR PharmGKB; PA134990089; -.
DR eggNOG; COG5043; -.
DR HOVERGEN; HBG079736; -.
DR InParanoid; Q709C8; -.
DR OMA; PEILKIQ; -.
DR OrthoDB; EOG7S4X52; -.
DR ChiTaRS; VPS13C; human.
DR GenomeRNAi; 54832; -.
DR NextBio; 57616; -.
DR PRO; PR:Q709C8; -.
DR ArrayExpress; Q709C8; -.
DR Bgee; Q709C8; -.
DR CleanEx; HS_VPS13C; -.
DR Genevestigator; Q709C8; -.
DR InterPro; IPR015412; Autophagy-rel_C.
DR InterPro; IPR026847; VPS13.
DR InterPro; IPR026854; VPS13A_N.
DR InterPro; IPR009543; VPSAP_dom.
DR PANTHER; PTHR16166; PTHR16166; 1.
DR Pfam; PF09333; ATG_C; 1.
DR Pfam; PF12624; Chorein_N; 1.
DR Pfam; PF06650; DUF1162; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Complete proteome; Isopeptide bond;
KW Phosphoprotein; Polymorphism; Reference proteome; Ubl conjugation.
FT CHAIN 1 3753 Vacuolar protein sorting-associated
FT protein 13C.
FT /FTId=PRO_0000262949.
FT COMPBIAS 145 179 Lys-rich.
FT MOD_RES 614 614 Phosphothreonine.
FT MOD_RES 619 619 Phosphoserine.
FT MOD_RES 624 624 Phosphothreonine.
FT MOD_RES 737 737 Phosphoserine.
FT MOD_RES 1979 1979 Phosphoserine (By similarity).
FT MOD_RES 3538 3538 N6-acetyllysine.
FT CROSSLNK 2357 2357 Glycyl lysine isopeptide (Lys-Gly)
FT (interchain with G-Cter in ubiquitin).
FT VAR_SEQ 129 171 Missing (in isoform 3 and isoform 4).
FT /FTId=VSP_052243.
FT VAR_SEQ 3622 3627 NHIKKL -> QELEIQE (in isoform 2 and
FT isoform 4).
FT /FTId=VSP_052244.
FT VAR_SEQ 3628 3753 Missing (in isoform 2 and isoform 4).
FT /FTId=VSP_052245.
FT VARIANT 153 153 R -> H (in dbSNP:rs12595158).
FT /FTId=VAR_029548.
FT VARIANT 974 974 R -> K (in dbSNP:rs3784634).
FT /FTId=VAR_029549.
FT VARIANT 1132 1132 I -> V (in dbSNP:rs3784635).
FT /FTId=VAR_029550.
FT VARIANT 1302 1302 Y -> C (in dbSNP:rs2303405).
FT /FTId=VAR_029551.
FT VARIANT 1485 1485 T -> A (in dbSNP:rs8026956).
FT /FTId=VAR_029552.
FT VARIANT 1495 1495 I -> V (in dbSNP:rs11629598).
FT /FTId=VAR_029553.
FT VARIANT 1592 1592 S -> Y (in dbSNP:rs11629838).
FT /FTId=VAR_029554.
FT VARIANT 2322 2322 V -> M (in dbSNP:rs12907567).
FT /FTId=VAR_029555.
FT VARIANT 2808 2808 K -> R (in dbSNP:rs34060567).
FT /FTId=VAR_053808.
FT VARIANT 2913 2913 S -> N (in dbSNP:rs10851704).
FT /FTId=VAR_029556.
SQ SEQUENCE 3753 AA; 422390 MW; 8B51A6778A89F639 CRC64;
MVLESVVADL LNRFLGDYVE NLNKSQLKLG IWGGNVALDN LQIKENALSE LDVPFKVKAG
QIDKLTLKIP WKNLYGEAVV ATLEGLYLLV VPGASIKYDA VKEEKSLQDV KQKELSRIEE
ALQKAAEKGT HSGEFIYGLE NFVYKDIKPG RKRKKHKKHF KKPFKGLDRS KDKPKEAKKD
TFVEKLATQV IKNVQVKITD IHIKYEDDVT DPKRPLSFGV TLGELSLLTA NEHWTPCILN
EADKIIYKLI RLDSLSAYWN VNCSMSYQRS REQILDQLKN EILTSGNIPP NYQYIFQPIS
ASAKLYMNPY AESELKTPKL DCNIEIQNIA IELTKPQYLS MIDLLESVDY MVRNAPYRKY
KPYLPLHTNG RRWWKYAIDS VLEVHIRRYT QMWSWSNIKK HRQLLKSYKI AYKNKLTQSK
VSEEIQKEIQ DLEKTLDVFN IILARQQAQV EVIRSGQKLR KKSADTGEKR GGWFSGLWGK
KESKKKDEES LIPETIDDLM TPEEKDKLFT AIGYSESTHN LTLPKQYVAH IMTLKLVSTS
VTIRENKNIP EILKIQIIGL GTQVSQRPGA QALKVEAKLE HWYITGLRQQ DIVPSLVASI
GDTTSSLLKI KFETNPEDSP ADQTLIVQSQ PVEVIYDAKT VNAVVEFFQS NKGLDLEQIT
SATLMKLEEI KERTATGLTH IIETRKVLDL RINLKPSYLV VPQTGFHHEK SDLLILDFGT
FQLNSKDQGL QKTTNSSLEE IMDKAYDKFD VEIKNVQLLF ARAEETWKKC RFQHPSTMHI
LQPMDIHVEL AKAMVEKDIR MARFKVSGGL PLMHVRISDQ KMKDVLYLMN SIPLPQKSSA
QSPERQVSSI PIISGGTKGL LGTSLLLDTV ESESDDEYFD AEDGEPQTCK SMKGSELKKA
AEVPNEELIN LLLKFEIKEV ILEFTKQQKE EDTILVFNVT QLGTEATMRT FDLTVVSYLK
KISLDYHEIE GSKRKPLHLI SSSDKPGLDL LKVEYIKADK NGPSFQTAFG KTEQTVKVAF
SSLNLLLQTQ ALVASINYLT TIIPSDDQSI SVAKEVQIST EKQQKNSTLP KAIVSSRDSD
IIDFRLFAKL NAFCVIVCNE KNNIAEIKIQ GLDSSLSLQS RKQSLFARLE NIIVTDVDPK
TVHKKAVSIM GNEVFRFNLD LYPDATEGDL YTDMSKVDGV LSLNVGCIQI VYLHKFLMSL
LNFLNNFQTA KESLSAATAQ AAERAATSVK DLAQRSFRVS INIDLKAPVI VIPQSSISTN
AVVVDLGLIR VHNQFSLVSD EDYLNPPVID RMDVQLTKLT LYRTVIQPGI YHPDIQLLHP
INLEFLVNRN LAASWYHKVP VVEIKGHLDS MNVSLNQEDL NLLFRILTEN LCEGTEDLDK
VKPRVQETGE IKEPLEISIS QDVHDSKNTL TTGVEEIRSV DIINMLLNFE IKEVVVTLMK
KSEKKGRPLH ELNVLQLGME AKVKTYDMTA KAYLKKISMQ CFDFTDSKGE PLHIINSSNV
TDEPLLKMLL TKADSDGPEF KTIHDSTKQR LKVSFASLDL VLHLEALLSF MDFLSSAAPF
SEPSSSEKES ELKPLVGESR SIAVKAVSSN ISQKDVFDLK ITAELNAFNV FVCDQKCNIA
DIKIHGMDAS ISVKPKQTDV FARLKDIIVM NVDLQSIHKK AVSILGDEVF RFQLTLYPDA
TEGEAYADMS KVDGKLSFKV GCIQIVYVHK FFMSLLNFLN NFQTAKEALS TATVQAAERA
ASSMKDLAQK SFRLLMDINL KAPVIIIPQS SVSPNAVIAD LGLIRVENKF SLVPMEHYSL
PPVIDKMNIE LTQLKLSRTI LQASLPQNDI EILKPVNMLL SIQRNLAAAW YVQIPGMEIK
GKLKPMQVAL SEDDLTVLMK ILLENLGEAS SQPSPTQSVQ ETVRVRKVDV SSVPDHLKEQ
EDWTDSKLSM NQIVSLQFDF HFESLSIILY NNDINQESGV AFHNDSFQLG ELRLHLMASS
GKMFKDGSMN VSVKLKTCTL DDLREGIERA TSRMIDRKND QDNNSSMIDI SYKQDKNGSQ
IDAVLDKLYV CASVEFLMTV ADFFIKAVPQ SPENVAKETQ ILPRQTATGK VKIEKDDSVR
PNMTLKAMIT DPEVVFVASL TKADAPALTA SFQCNLSLST SKLEQMMEAS VRDLKVLACP
FLREKRGKNI TTVLQPCSLF MEKCTWASGK QNINIMVKEF IIKISPIILN TVLTIMAALS
PKTKEDGSKD TSKEMENLWG IKSINDYNTW FLGVDTATEI TESFKGIEHS LIEENCGVVV
ESIQVTLECG LGHRTVPLLL AESKFSGNIK NWTSLMAAVA DVTLQVHYYN EIHAVWEPLI
ERVEGKRQWN LRLDVKKNPV QDKSLLPGDD FIPEPQMAIH ISSGNTMNIT ISKSCLNVFN
NLAKGFSEGT ASTFDYSLKD RAPFTVKNAV GVPIKVKPNC NLRVMGFPEK SDIFDVDAGQ
NLELEYASMV PSSQGNLSIL SRQESSFFTL TIVPHGYTEV ANIPVARPGR RLYNVRNPNA
SHSDSVLVQI DATEGNKVIT LRSPLQIKNH FSIAFIIYKF VKNVKLLERI GIARPEEEFH
VPLDSYRCQL FIQPAGILEH QYKESTTYIS WKEELHRSRE VRCMLQCPSV EVSFLPLIVN
TVALPDELSY ICTHGEDWDV AYIIHLYPSL TLRNLLPYSL RYLLEGTAET HELAEGSTAD
VLHSRISGEI MELVLVKYQG KNWNGHFRIR DTLPEFFPVC FSSDSTEVTT VDLSVHVRRI
GSRMVLSVFS PYWLINKTTR VLQYRSEDIH VKHPADFRDI ILFSFKKKNI FTKNKVQLKI
STSAWSSSFS LDTVGSYGCV KCPANNMEYL VGVSIKMSSF NLSRIVTLTP FCTIANKSSL
ELEVGEIASD GSMPTNKWNY IASSECLPFW PESLSGKLCV RVVGCEGSSK PFFYNRQDNG
TLLSLEDLNG GILVDVNTAE HSTVITFSDY HEGSAPALIM NHTPWDILTY KQSGSPEEMV
LLPRQARLFA WADPTGTRKL TWTYAANVGE HDLLKDGCGQ FPYDANIQIH WVSFLDGRQR
VLLFTDDVAL VSKALQAEEM EQADYEITLS LHSLGLSLVN NESKQEVSYI GITSSGVVWE
VKPKQKWKPF SQKQIILLEQ SYQKHQISRD HGWIKLDNNF EVNFDKDPME MRLPIRSPIK
RDFLSGIQIE FKQSSHQRSL RARLYWLQVD NQLPGAMFPV VFHPVAPPKS IALDSEPKPF
IDVSVITRFN EYSKVLQFKY FMVLIQEMAL KIDQGFLGAI IALFTPTTDP EAERRRTKLI
QQDIDALNAE LMETSMTDMS ILSFFEHFHI SPVKLHLSLS LGSGGEESDK EKQEMFAVHS
VNLLLKSIGA TLTDVDDLIF KLAYYEIRYQ FYKRDQLIWS VVRHYSEQFL KQMYVLVLGL
DVLGNPFGLI RGLSEGVEAL FYEPFQGAVQ GPEEFAEGLV IGVRSLFGHT VGGAAGVVSR
ITGSVGKGLA AITMDKEYQQ KRREELSRQP RDFGDSLARG GKGFLRGVVG GVTGIITKPV
EGAKKEGAAG FFKGIGKGLV GAVARPTGGI VDMASSTFQG IQRAAESTEE VSSLRPPRLI
HEDGIIRPYD RQESEGSDLL ENHIKKLEGE TYRYHCAIPG SKKTILMVTN RRVLCIKEVE
ILGLMCVDWQ CPFEDFVFPP SVSENVLKIS VKEQGLFHKK DSANQGCVRK VYLKDTATAE
RACNAIEDAQ STRQQQKLMK QSSVRLLRPQ LPS
//
ID VP13C_HUMAN Reviewed; 3753 AA.
AC Q709C8; Q6ISR4; Q702P2; Q702P3; Q709C9; Q9NXN8; Q9P2C6;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
read moreDT 05-JUL-2004, sequence version 1.
DT 22-JAN-2014, entry version 76.
DE RecName: Full=Vacuolar protein sorting-associated protein 13C;
GN Name=VPS13C; Synonyms=KIAA1421;
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] (ISOFORMS 1; 2; 3 AND 4), AND TISSUE
RP SPECIFICITY.
RC TISSUE=Lymphoblast;
RX PubMed=15498460; DOI=10.1016/j.ygeno.2004.04.012;
RA Velayos-Baeza A., Vettori A., Copley R.R., Dobson-Stone C.,
RA Monaco A.P.;
RT "Analysis of the human VPS13 gene family.";
RL Genomics 84:536-549(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1439 (ISOFORMS 1/2), AND
RP VARIANT LYS-974.
RC TISSUE=Brain;
RX PubMed=10718198; DOI=10.1093/dnares/7.1.65;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVI.
RT The complete sequences of 150 new cDNA clones from brain which code
RT for large proteins in vitro.";
RL DNA Res. 7:65-73(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3305-3753 (ISOFORMS 1/3).
RC TISSUE=Colon;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3305-3753 (ISOFORMS 1/3).
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 [5]
RP UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-2357, AND MASS
RP SPECTROMETRY.
RC TISSUE=Mammary cancer;
RX PubMed=17370265; DOI=10.1002/pmic.200600410;
RA Denis N.J., Vasilescu J., Lambert J.-P., Smith J.C., Figeys D.;
RT "Tryptic digestion of ubiquitin standards reveals an improved strategy
RT for identifying ubiquitinated proteins by mass spectrometry.";
RL Proteomics 7:868-874(2007).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-614; SER-619; THR-624
RP AND SER-737, AND MASS 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).
RN [8]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-3538, AND MASS SPECTROMETRY.
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M.,
RA Walther T.C., Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1; Synonyms=2A;
CC IsoId=Q709C8-1; Sequence=Displayed;
CC Name=2; Synonyms=2B;
CC IsoId=Q709C8-2; Sequence=VSP_052244, VSP_052245;
CC Name=3; Synonyms=1A;
CC IsoId=Q709C8-3; Sequence=VSP_052243;
CC Name=4; Synonyms=1B;
CC IsoId=Q709C8-4; Sequence=VSP_052243, VSP_052244, VSP_052245;
CC -!- TISSUE SPECIFICITY: Widely expressed.
CC -!- SIMILARITY: Belongs to the VPS13 family.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA90972.1; Type=Erroneous initiation;
CC Sequence=BAA92659.1; Type=Erroneous initiation;
CC -----------------------------------------------------------------------
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CC Distributed under the Creative Commons Attribution-NoDerivs License
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DR EMBL; AJ608770; CAE75582.1; -; mRNA.
DR EMBL; AJ608771; CAE75583.1; -; mRNA.
DR EMBL; AJ626860; CAF25187.1; -; mRNA.
DR EMBL; AJ626861; CAF25188.1; -; mRNA.
DR EMBL; AB037842; BAA92659.1; ALT_INIT; mRNA.
DR EMBL; AK000143; BAA90972.1; ALT_INIT; mRNA.
DR EMBL; BC069387; AAH69387.1; -; mRNA.
DR RefSeq; NP_001018098.1; NM_001018088.2.
DR RefSeq; NP_060154.3; NM_017684.4.
DR RefSeq; NP_060550.2; NM_018080.3.
DR RefSeq; NP_065872.1; NM_020821.2.
DR UniGene; Hs.511668; -.
DR ProteinModelPortal; Q709C8; -.
DR IntAct; Q709C8; 2.
DR STRING; 9606.ENSP00000261517; -.
DR PhosphoSite; Q709C8; -.
DR DMDM; 74712594; -.
DR PaxDb; Q709C8; -.
DR PRIDE; Q709C8; -.
DR Ensembl; ENST00000249837; ENSP00000249837; ENSG00000129003.
DR Ensembl; ENST00000261517; ENSP00000261517; ENSG00000129003.
DR Ensembl; ENST00000395896; ENSP00000379233; ENSG00000129003.
DR Ensembl; ENST00000395898; ENSP00000379235; ENSG00000129003.
DR GeneID; 54832; -.
DR KEGG; hsa:54832; -.
DR UCSC; uc002agz.3; human.
DR CTD; 54832; -.
DR GeneCards; GC15M062144; -.
DR HGNC; HGNC:23594; VPS13C.
DR HPA; HPA043356; -.
DR HPA; HPA043507; -.
DR MIM; 608879; gene.
DR neXtProt; NX_Q709C8; -.
DR PharmGKB; PA134990089; -.
DR eggNOG; COG5043; -.
DR HOVERGEN; HBG079736; -.
DR InParanoid; Q709C8; -.
DR OMA; PEILKIQ; -.
DR OrthoDB; EOG7S4X52; -.
DR ChiTaRS; VPS13C; human.
DR GenomeRNAi; 54832; -.
DR NextBio; 57616; -.
DR PRO; PR:Q709C8; -.
DR ArrayExpress; Q709C8; -.
DR Bgee; Q709C8; -.
DR CleanEx; HS_VPS13C; -.
DR Genevestigator; Q709C8; -.
DR InterPro; IPR015412; Autophagy-rel_C.
DR InterPro; IPR026847; VPS13.
DR InterPro; IPR026854; VPS13A_N.
DR InterPro; IPR009543; VPSAP_dom.
DR PANTHER; PTHR16166; PTHR16166; 1.
DR Pfam; PF09333; ATG_C; 1.
DR Pfam; PF12624; Chorein_N; 1.
DR Pfam; PF06650; DUF1162; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Complete proteome; Isopeptide bond;
KW Phosphoprotein; Polymorphism; Reference proteome; Ubl conjugation.
FT CHAIN 1 3753 Vacuolar protein sorting-associated
FT protein 13C.
FT /FTId=PRO_0000262949.
FT COMPBIAS 145 179 Lys-rich.
FT MOD_RES 614 614 Phosphothreonine.
FT MOD_RES 619 619 Phosphoserine.
FT MOD_RES 624 624 Phosphothreonine.
FT MOD_RES 737 737 Phosphoserine.
FT MOD_RES 1979 1979 Phosphoserine (By similarity).
FT MOD_RES 3538 3538 N6-acetyllysine.
FT CROSSLNK 2357 2357 Glycyl lysine isopeptide (Lys-Gly)
FT (interchain with G-Cter in ubiquitin).
FT VAR_SEQ 129 171 Missing (in isoform 3 and isoform 4).
FT /FTId=VSP_052243.
FT VAR_SEQ 3622 3627 NHIKKL -> QELEIQE (in isoform 2 and
FT isoform 4).
FT /FTId=VSP_052244.
FT VAR_SEQ 3628 3753 Missing (in isoform 2 and isoform 4).
FT /FTId=VSP_052245.
FT VARIANT 153 153 R -> H (in dbSNP:rs12595158).
FT /FTId=VAR_029548.
FT VARIANT 974 974 R -> K (in dbSNP:rs3784634).
FT /FTId=VAR_029549.
FT VARIANT 1132 1132 I -> V (in dbSNP:rs3784635).
FT /FTId=VAR_029550.
FT VARIANT 1302 1302 Y -> C (in dbSNP:rs2303405).
FT /FTId=VAR_029551.
FT VARIANT 1485 1485 T -> A (in dbSNP:rs8026956).
FT /FTId=VAR_029552.
FT VARIANT 1495 1495 I -> V (in dbSNP:rs11629598).
FT /FTId=VAR_029553.
FT VARIANT 1592 1592 S -> Y (in dbSNP:rs11629838).
FT /FTId=VAR_029554.
FT VARIANT 2322 2322 V -> M (in dbSNP:rs12907567).
FT /FTId=VAR_029555.
FT VARIANT 2808 2808 K -> R (in dbSNP:rs34060567).
FT /FTId=VAR_053808.
FT VARIANT 2913 2913 S -> N (in dbSNP:rs10851704).
FT /FTId=VAR_029556.
SQ SEQUENCE 3753 AA; 422390 MW; 8B51A6778A89F639 CRC64;
MVLESVVADL LNRFLGDYVE NLNKSQLKLG IWGGNVALDN LQIKENALSE LDVPFKVKAG
QIDKLTLKIP WKNLYGEAVV ATLEGLYLLV VPGASIKYDA VKEEKSLQDV KQKELSRIEE
ALQKAAEKGT HSGEFIYGLE NFVYKDIKPG RKRKKHKKHF KKPFKGLDRS KDKPKEAKKD
TFVEKLATQV IKNVQVKITD IHIKYEDDVT DPKRPLSFGV TLGELSLLTA NEHWTPCILN
EADKIIYKLI RLDSLSAYWN VNCSMSYQRS REQILDQLKN EILTSGNIPP NYQYIFQPIS
ASAKLYMNPY AESELKTPKL DCNIEIQNIA IELTKPQYLS MIDLLESVDY MVRNAPYRKY
KPYLPLHTNG RRWWKYAIDS VLEVHIRRYT QMWSWSNIKK HRQLLKSYKI AYKNKLTQSK
VSEEIQKEIQ DLEKTLDVFN IILARQQAQV EVIRSGQKLR KKSADTGEKR GGWFSGLWGK
KESKKKDEES LIPETIDDLM TPEEKDKLFT AIGYSESTHN LTLPKQYVAH IMTLKLVSTS
VTIRENKNIP EILKIQIIGL GTQVSQRPGA QALKVEAKLE HWYITGLRQQ DIVPSLVASI
GDTTSSLLKI KFETNPEDSP ADQTLIVQSQ PVEVIYDAKT VNAVVEFFQS NKGLDLEQIT
SATLMKLEEI KERTATGLTH IIETRKVLDL RINLKPSYLV VPQTGFHHEK SDLLILDFGT
FQLNSKDQGL QKTTNSSLEE IMDKAYDKFD VEIKNVQLLF ARAEETWKKC RFQHPSTMHI
LQPMDIHVEL AKAMVEKDIR MARFKVSGGL PLMHVRISDQ KMKDVLYLMN SIPLPQKSSA
QSPERQVSSI PIISGGTKGL LGTSLLLDTV ESESDDEYFD AEDGEPQTCK SMKGSELKKA
AEVPNEELIN LLLKFEIKEV ILEFTKQQKE EDTILVFNVT QLGTEATMRT FDLTVVSYLK
KISLDYHEIE GSKRKPLHLI SSSDKPGLDL LKVEYIKADK NGPSFQTAFG KTEQTVKVAF
SSLNLLLQTQ ALVASINYLT TIIPSDDQSI SVAKEVQIST EKQQKNSTLP KAIVSSRDSD
IIDFRLFAKL NAFCVIVCNE KNNIAEIKIQ GLDSSLSLQS RKQSLFARLE NIIVTDVDPK
TVHKKAVSIM GNEVFRFNLD LYPDATEGDL YTDMSKVDGV LSLNVGCIQI VYLHKFLMSL
LNFLNNFQTA KESLSAATAQ AAERAATSVK DLAQRSFRVS INIDLKAPVI VIPQSSISTN
AVVVDLGLIR VHNQFSLVSD EDYLNPPVID RMDVQLTKLT LYRTVIQPGI YHPDIQLLHP
INLEFLVNRN LAASWYHKVP VVEIKGHLDS MNVSLNQEDL NLLFRILTEN LCEGTEDLDK
VKPRVQETGE IKEPLEISIS QDVHDSKNTL TTGVEEIRSV DIINMLLNFE IKEVVVTLMK
KSEKKGRPLH ELNVLQLGME AKVKTYDMTA KAYLKKISMQ CFDFTDSKGE PLHIINSSNV
TDEPLLKMLL TKADSDGPEF KTIHDSTKQR LKVSFASLDL VLHLEALLSF MDFLSSAAPF
SEPSSSEKES ELKPLVGESR SIAVKAVSSN ISQKDVFDLK ITAELNAFNV FVCDQKCNIA
DIKIHGMDAS ISVKPKQTDV FARLKDIIVM NVDLQSIHKK AVSILGDEVF RFQLTLYPDA
TEGEAYADMS KVDGKLSFKV GCIQIVYVHK FFMSLLNFLN NFQTAKEALS TATVQAAERA
ASSMKDLAQK SFRLLMDINL KAPVIIIPQS SVSPNAVIAD LGLIRVENKF SLVPMEHYSL
PPVIDKMNIE LTQLKLSRTI LQASLPQNDI EILKPVNMLL SIQRNLAAAW YVQIPGMEIK
GKLKPMQVAL SEDDLTVLMK ILLENLGEAS SQPSPTQSVQ ETVRVRKVDV SSVPDHLKEQ
EDWTDSKLSM NQIVSLQFDF HFESLSIILY NNDINQESGV AFHNDSFQLG ELRLHLMASS
GKMFKDGSMN VSVKLKTCTL DDLREGIERA TSRMIDRKND QDNNSSMIDI SYKQDKNGSQ
IDAVLDKLYV CASVEFLMTV ADFFIKAVPQ SPENVAKETQ ILPRQTATGK VKIEKDDSVR
PNMTLKAMIT DPEVVFVASL TKADAPALTA SFQCNLSLST SKLEQMMEAS VRDLKVLACP
FLREKRGKNI TTVLQPCSLF MEKCTWASGK QNINIMVKEF IIKISPIILN TVLTIMAALS
PKTKEDGSKD TSKEMENLWG IKSINDYNTW FLGVDTATEI TESFKGIEHS LIEENCGVVV
ESIQVTLECG LGHRTVPLLL AESKFSGNIK NWTSLMAAVA DVTLQVHYYN EIHAVWEPLI
ERVEGKRQWN LRLDVKKNPV QDKSLLPGDD FIPEPQMAIH ISSGNTMNIT ISKSCLNVFN
NLAKGFSEGT ASTFDYSLKD RAPFTVKNAV GVPIKVKPNC NLRVMGFPEK SDIFDVDAGQ
NLELEYASMV PSSQGNLSIL SRQESSFFTL TIVPHGYTEV ANIPVARPGR RLYNVRNPNA
SHSDSVLVQI DATEGNKVIT LRSPLQIKNH FSIAFIIYKF VKNVKLLERI GIARPEEEFH
VPLDSYRCQL FIQPAGILEH QYKESTTYIS WKEELHRSRE VRCMLQCPSV EVSFLPLIVN
TVALPDELSY ICTHGEDWDV AYIIHLYPSL TLRNLLPYSL RYLLEGTAET HELAEGSTAD
VLHSRISGEI MELVLVKYQG KNWNGHFRIR DTLPEFFPVC FSSDSTEVTT VDLSVHVRRI
GSRMVLSVFS PYWLINKTTR VLQYRSEDIH VKHPADFRDI ILFSFKKKNI FTKNKVQLKI
STSAWSSSFS LDTVGSYGCV KCPANNMEYL VGVSIKMSSF NLSRIVTLTP FCTIANKSSL
ELEVGEIASD GSMPTNKWNY IASSECLPFW PESLSGKLCV RVVGCEGSSK PFFYNRQDNG
TLLSLEDLNG GILVDVNTAE HSTVITFSDY HEGSAPALIM NHTPWDILTY KQSGSPEEMV
LLPRQARLFA WADPTGTRKL TWTYAANVGE HDLLKDGCGQ FPYDANIQIH WVSFLDGRQR
VLLFTDDVAL VSKALQAEEM EQADYEITLS LHSLGLSLVN NESKQEVSYI GITSSGVVWE
VKPKQKWKPF SQKQIILLEQ SYQKHQISRD HGWIKLDNNF EVNFDKDPME MRLPIRSPIK
RDFLSGIQIE FKQSSHQRSL RARLYWLQVD NQLPGAMFPV VFHPVAPPKS IALDSEPKPF
IDVSVITRFN EYSKVLQFKY FMVLIQEMAL KIDQGFLGAI IALFTPTTDP EAERRRTKLI
QQDIDALNAE LMETSMTDMS ILSFFEHFHI SPVKLHLSLS LGSGGEESDK EKQEMFAVHS
VNLLLKSIGA TLTDVDDLIF KLAYYEIRYQ FYKRDQLIWS VVRHYSEQFL KQMYVLVLGL
DVLGNPFGLI RGLSEGVEAL FYEPFQGAVQ GPEEFAEGLV IGVRSLFGHT VGGAAGVVSR
ITGSVGKGLA AITMDKEYQQ KRREELSRQP RDFGDSLARG GKGFLRGVVG GVTGIITKPV
EGAKKEGAAG FFKGIGKGLV GAVARPTGGI VDMASSTFQG IQRAAESTEE VSSLRPPRLI
HEDGIIRPYD RQESEGSDLL ENHIKKLEGE TYRYHCAIPG SKKTILMVTN RRVLCIKEVE
ILGLMCVDWQ CPFEDFVFPP SVSENVLKIS VKEQGLFHKK DSANQGCVRK VYLKDTATAE
RACNAIEDAQ STRQQQKLMK QSSVRLLRPQ LPS
//
MIM
608879
*RECORD*
*FIELD* NO
608879
*FIELD* TI
*608879 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, C; VPS13C
;;KIAA1421
*FIELD* TX
read more
CLONING
By sequencing clones obtained from a size-fractionated adult brain cDNA
library, Nagase et al. (2000) cloned VPS13C, which they designated
KIAA1421. The deduced protein contains 1,463 amino acids. RT-PCR ELISA
detected VPS13C expression in all adult and fetal tissues and all
specific brain regions examined. Expression was intermediate in most
tissues, but it was lower in adult pancreas and lung and in fetal liver
and brain.
By searching databases for sequences similar to VPS13A (605978),
followed by RT-PCR of lymphoid cell line and brain RNA, Velayos-Baeza et
al. (2004) cloned VPS13C. They identified 2 main splice variants,
variant 1A and variant 2A, as well as 4 different 3-prime end splice
variants. Variant 1A encodes a deduced 3,710-amino acid protein, and
variant 2A encodes a deduced 3,753-amino acid protein. VPS13C shares
significant similarity with yeast Vps13 and other human VPS13 proteins,
mostly in the N and C termini. Northern blot analysis detected
expression of variant 1A in all tissues tested, whereas variant 2A was
expressed only in brain, although at a higher level than variant 1A.
GENE STRUCTURE
Velayos-Baeza et al. (2004) determined that the VPS13C gene contains 86
exons, including 1 alternative exon (exon 81b), and spans 208 kb.
MAPPING
Using radiation hybrid analysis, Nagase et al. (2000) mapped the VPS13C
gene to chromosome 15. By genomic sequence analysis, Velayos-Baeza et
al. (2004) mapped the VPS13C gene to chromosome 15q21.3. They mapped the
mouse Vps13c gene to chromosome 9C.
*FIELD* RF
1. Nagase, T.; Kikuno, R.; Ishikawa, K.; Hirosawa, M.; Ohara, O.:
Prediction of the coding sequences of unidentified human genes. XVI.
The complete sequences of 150 new cDNA clones from brain which code
for large proteins in vitro. DNA Res. 7: 65-73, 2000.
2. Velayos-Baeza, A.; Vettori, A.; Copley, R. R.; Dobson-Stone, C.;
Monaco, A. P.: Analysis of the human VPS13 gene family. Genomics 84:
536-549, 2004.
*FIELD* CD
Patricia A. Hartz: 8/27/2004
*FIELD* ED
mgross: 08/27/2004
mgross: 8/27/2004
*RECORD*
*FIELD* NO
608879
*FIELD* TI
*608879 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, C; VPS13C
;;KIAA1421
*FIELD* TX
read more
CLONING
By sequencing clones obtained from a size-fractionated adult brain cDNA
library, Nagase et al. (2000) cloned VPS13C, which they designated
KIAA1421. The deduced protein contains 1,463 amino acids. RT-PCR ELISA
detected VPS13C expression in all adult and fetal tissues and all
specific brain regions examined. Expression was intermediate in most
tissues, but it was lower in adult pancreas and lung and in fetal liver
and brain.
By searching databases for sequences similar to VPS13A (605978),
followed by RT-PCR of lymphoid cell line and brain RNA, Velayos-Baeza et
al. (2004) cloned VPS13C. They identified 2 main splice variants,
variant 1A and variant 2A, as well as 4 different 3-prime end splice
variants. Variant 1A encodes a deduced 3,710-amino acid protein, and
variant 2A encodes a deduced 3,753-amino acid protein. VPS13C shares
significant similarity with yeast Vps13 and other human VPS13 proteins,
mostly in the N and C termini. Northern blot analysis detected
expression of variant 1A in all tissues tested, whereas variant 2A was
expressed only in brain, although at a higher level than variant 1A.
GENE STRUCTURE
Velayos-Baeza et al. (2004) determined that the VPS13C gene contains 86
exons, including 1 alternative exon (exon 81b), and spans 208 kb.
MAPPING
Using radiation hybrid analysis, Nagase et al. (2000) mapped the VPS13C
gene to chromosome 15. By genomic sequence analysis, Velayos-Baeza et
al. (2004) mapped the VPS13C gene to chromosome 15q21.3. They mapped the
mouse Vps13c gene to chromosome 9C.
*FIELD* RF
1. Nagase, T.; Kikuno, R.; Ishikawa, K.; Hirosawa, M.; Ohara, O.:
Prediction of the coding sequences of unidentified human genes. XVI.
The complete sequences of 150 new cDNA clones from brain which code
for large proteins in vitro. DNA Res. 7: 65-73, 2000.
2. Velayos-Baeza, A.; Vettori, A.; Copley, R. R.; Dobson-Stone, C.;
Monaco, A. P.: Analysis of the human VPS13 gene family. Genomics 84:
536-549, 2004.
*FIELD* CD
Patricia A. Hartz: 8/27/2004
*FIELD* ED
mgross: 08/27/2004
mgross: 8/27/2004