VP13B_HUMAN
ID VP13B_HUMAN Reviewed; 4022 AA.
AC Q7Z7G8; C9JD30; Q709C6; Q709C7; Q7Z7G4; Q7Z7G5; Q7Z7G6; Q7Z7G7; Q8NB77;
AC Q9NWV1; Q9Y4E7;
DT 16-FEB-2004, integrated into UniProtKB/Swiss-Prot.
DT 05-OCT-2010, sequence version 2.
DT 03-AUG-2022, entry version 151.
DE RecName: Full=Intermembrane lipid transfer protein VPS13B {ECO:0000305};
DE AltName: Full=Cohen syndrome protein 1;
DE AltName: Full=Vacuolar protein sorting-associated protein 13B;
GN Name=VPS13B; Synonyms=CHS1, COH1, KIAA0532;
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 [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5), TISSUE SPECIFICITY,
RP VARIANT 413-TYR--LEU-415 DEL (ISOFORM 5), AND VARIANT COH1 ARG-2193.
RC TISSUE=Lymphoblast;
RX PubMed=12730828; DOI=10.1086/375454;
RA Kolehmainen J., Black G.C.M., Saarinen A., Chandler K., Clayton-Smith J.,
RA Traeskelin A.-L., Perveen R., Kivitie-Kallio S., Norio R., Warburg M.,
RA Fryns J.-P., de la Chapelle A., Lehesjoki A.-E.;
RT "Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a
RT transmembrane protein with a presumed role in vesicle-mediated sorting and
RT intracellular protein transport.";
RL Am. J. Hum. Genet. 72:1359-1369(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
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., Monaco A.P.;
RT "Analysis of the human VPS13 gene family.";
RL Genomics 84:536-549(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 518-1522 (ISOFORM 6), AND VARIANT 413-TYR--LEU-415
RP DEL (ISOFORM 5).
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2386-4022.
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 [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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 [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-414; SER-999; SER-1002;
RP SER-1033 AND SER-1815, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Cervix carcinoma, and 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).
RN [8]
RP VARIANT COH1 SER-2993.
RX PubMed=15141358; DOI=10.1086/422197;
RA Kolehmainen J., Wilkinson R., Lehesjoki A.-E., Chandler K.,
RA Kivitie-Kallio S., Clayton-Smith J., Traeskelin A.-L., Waris L.,
RA Saarinen A., Khan J., Gross-Tsur V., Traboulsi E.I., Warburg M.,
RA Fryns J.-P., Norio R., Black G.C.M., Manson F.D.C.;
RT "Delineation of Cohen syndrome following a large-scale genotype-phenotype
RT screen.";
RL Am. J. Hum. Genet. 75:122-127(2004).
RN [9]
RP VARIANTS COH1 CYS-2341 AND ASP-2645.
RX PubMed=15154116; DOI=10.1086/422219;
RA Hennies H.C., Rauch A., Seifert W., Schumi C., Moser E., Al-Taji E.,
RA Tariverdian G., Chrzanowska K.H., Krajewska-Walasek M., Rajab A.,
RA Giugliani R., Neumann T.E., Eckl K.M., Karbasiyan M., Reis A., Horn D.;
RT "Allelic heterogeneity in the COH1 gene explains clinical variability in
RT Cohen syndrome.";
RL Am. J. Hum. Genet. 75:138-145(2004).
RN [10]
RP VARIANT COH1 THR-2820.
RX PubMed=15211651; DOI=10.1002/ajmg.a.30033;
RA Falk M.J., Feiler H.S., Neilson D.E., Maxwell K., Lee J.V., Segall S.K.,
RA Robin N.H., Wilhelmsen K.C., Traeskelin A.-L., Kolehmainen J.,
RA Lehesjoki A.-E., Wiznitzer M., Warman M.L.;
RT "Cohen syndrome in the Ohio Amish.";
RL Am. J. Med. Genet. A 128:23-28(2004).
RN [11]
RP VARIANTS COH1 1739-GLU--GLN-1744 DEL AND LEU-2773, AND VARIANTS THR-829;
RP ILE-866; VAL-1994; CYS-2822 AND ARG-3142.
RX PubMed=16648375; DOI=10.1136/jmg.2005.039867;
RA Seifert W., Holder-Espinasse M., Spranger S., Hoeltzenbein M., Rossier E.,
RA Dollfus H., Lacombe D., Verloes A., Chrzanowska K.H., Maegawa G.H.B.,
RA Chitayat D., Kotzot D., Huhle D., Meinecke P., Albrecht B., Mathijssen I.,
RA Leheup B., Raile K., Hennies H.C., Horn D.;
RT "Mutational spectrum of COH1 and clinical heterogeneity in Cohen
RT syndrome.";
RL J. Med. Genet. 43:E22-E22(2006).
RN [12]
RP VARIANT [LARGE SCALE ANALYSIS] VAL-3001.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [13]
RP VARIANT COH1 LEU-1494 DEL, AND TISSUE SPECIFICITY.
RX PubMed=19006247; DOI=10.1002/humu.20886;
RA Seifert W., Holder-Espinasse M., Kuehnisch J., Kahrizi K., Tzschach A.,
RA Garshasbi M., Najmabadi H., Walter Kuss A., Kress W., Laureys G., Loeys B.,
RA Brilstra E., Mancini G.M.S., Dollfus H., Dahan K., Apse K., Hennies H.C.,
RA Horn D.;
RT "Expanded mutational spectrum in Cohen syndrome, tissue expression, and
RT transcript variants of COH1.";
RL Hum. Mutat. 30:E404-E420(2009).
RN [14]
RP VARIANT ILE-2481.
RX PubMed=23033978; DOI=10.1056/nejmoa1206524;
RA de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G.,
RA Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C.,
RA del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G.,
RA Veltman J.A., Vissers L.E.;
RT "Diagnostic exome sequencing in persons with severe intellectual
RT disability.";
RL N. Engl. J. Med. 367:1921-1929(2012).
CC -!- FUNCTION: Mediates the transfer of lipids between membranes at
CC organelle contact sites. {ECO:0000250|UniProtKB:Q07878}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1; Synonyms=1A;
CC IsoId=Q7Z7G8-1; Sequence=Displayed;
CC Name=2; Synonyms=2A;
CC IsoId=Q7Z7G8-2; Sequence=VSP_009408;
CC Name=3;
CC IsoId=Q7Z7G8-3; Sequence=VSP_009409, VSP_009410;
CC Name=4;
CC IsoId=Q7Z7G8-4; Sequence=VSP_009406, VSP_009407;
CC Name=5;
CC IsoId=Q7Z7G8-5; Sequence=VSP_009404, VSP_009405;
CC Name=6;
CC IsoId=Q7Z7G8-6; Sequence=VSP_039837;
CC -!- TISSUE SPECIFICITY: Widely expressed. There is apparent differential
CC expression of different transcripts. In fetal brain, lung, liver, and
CC kidney, two transcripts of 2 and 5 kb are identified. These transcripts
CC are also seen in all adult tissues analyzed. A larger transcript (12-14
CC kb) is expressed in prostate, testis, ovary, and colon in the adult.
CC Expression is very low in adult brain tissue. Isoform 1 and isoform 2
CC are expressed in brain and retina. Isoform 2 is expressed ubiquitously.
CC {ECO:0000269|PubMed:12730828, ECO:0000269|PubMed:19006247}.
CC -!- DISEASE: Cohen syndrome (COH1) [MIM:216550]: A rare autosomal recessive
CC disorder characterized by obesity, hypotonia, intellectual deficit,
CC characteristic craniofacial dysmorphism and abnormalities of the hands
CC and feet. Characteristic facial features include high-arched or wave-
CC shaped eyelids, a short philtrum, thick hair and low hairline.
CC {ECO:0000269|PubMed:12730828, ECO:0000269|PubMed:15141358,
CC ECO:0000269|PubMed:15154116, ECO:0000269|PubMed:15211651,
CC ECO:0000269|PubMed:16648375, ECO:0000269|PubMed:19006247}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the VPS13 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC03664.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY223814; AAP41102.1; -; mRNA.
DR EMBL; AY223815; AAP41103.1; -; mRNA.
DR EMBL; AY223816; AAP41104.1; -; mRNA.
DR EMBL; AY223817; AAP41105.1; -; mRNA.
DR EMBL; AY223818; AAP41106.1; -; mRNA.
DR EMBL; AJ608772; CAE75584.1; -; mRNA.
DR EMBL; AJ608773; CAE75585.1; -; mRNA.
DR EMBL; AK091431; BAC03664.1; ALT_INIT; mRNA.
DR EMBL; AK000590; BAA91275.1; -; mRNA.
DR EMBL; AC018442; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC023933; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC026827; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC104986; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC105195; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC105328; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC107909; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP004289; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP004290; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AB011104; BAA25458.1; -; mRNA.
DR CCDS; CCDS47903.1; -. [Q7Z7G8-5]
DR CCDS; CCDS6280.1; -. [Q7Z7G8-1]
DR CCDS; CCDS6281.1; -. [Q7Z7G8-2]
DR CCDS; CCDS6283.1; -. [Q7Z7G8-4]
DR PIR; T00070; T00070.
DR RefSeq; NP_056058.2; NM_015243.2. [Q7Z7G8-4]
DR RefSeq; NP_060360.3; NM_017890.4. [Q7Z7G8-1]
DR RefSeq; NP_689777.3; NM_152564.4. [Q7Z7G8-2]
DR RefSeq; NP_858047.2; NM_181661.2. [Q7Z7G8-5]
DR RefSeq; XP_005250857.1; XM_005250800.3.
DR RefSeq; XP_005250858.1; XM_005250801.4.
DR RefSeq; XP_011515150.1; XM_011516848.2.
DR BioGRID; 127612; 94.
DR IntAct; Q7Z7G8; 21.
DR STRING; 9606.ENSP00000351346; -.
DR CarbonylDB; Q7Z7G8; -.
DR GlyGen; Q7Z7G8; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q7Z7G8; -.
DR MetOSite; Q7Z7G8; -.
DR PhosphoSitePlus; Q7Z7G8; -.
DR BioMuta; VPS13B; -.
DR DMDM; 308153515; -.
DR EPD; Q7Z7G8; -.
DR jPOST; Q7Z7G8; -.
DR MassIVE; Q7Z7G8; -.
DR MaxQB; Q7Z7G8; -.
DR PaxDb; Q7Z7G8; -.
DR PeptideAtlas; Q7Z7G8; -.
DR PRIDE; Q7Z7G8; -.
DR ProteomicsDB; 69541; -. [Q7Z7G8-1]
DR ProteomicsDB; 69542; -. [Q7Z7G8-2]
DR ProteomicsDB; 69543; -. [Q7Z7G8-3]
DR ProteomicsDB; 69544; -. [Q7Z7G8-4]
DR ProteomicsDB; 69545; -. [Q7Z7G8-5]
DR ProteomicsDB; 69546; -. [Q7Z7G8-6]
DR Antibodypedia; 26091; 94 antibodies from 24 providers.
DR DNASU; 157680; -.
DR Ensembl; ENST00000357162.7; ENSP00000349685.2; ENSG00000132549.20. [Q7Z7G8-2]
DR Ensembl; ENST00000358544.7; ENSP00000351346.2; ENSG00000132549.20. [Q7Z7G8-1]
DR Ensembl; ENST00000441350.2; ENSP00000398472.2; ENSG00000132549.20. [Q7Z7G8-5]
DR Ensembl; ENST00000496144.5; ENSP00000430900.1; ENSG00000132549.20. [Q7Z7G8-3]
DR GeneID; 157680; -.
DR KEGG; hsa:157680; -.
DR MANE-Select; ENST00000357162.7; ENSP00000349685.2; NM_152564.5; NP_689777.3. [Q7Z7G8-2]
DR UCSC; uc003yis.4; human. [Q7Z7G8-1]
DR CTD; 157680; -.
DR DisGeNET; 157680; -.
DR GeneCards; VPS13B; -.
DR GeneReviews; VPS13B; -.
DR HGNC; HGNC:2183; VPS13B.
DR HPA; ENSG00000132549; Low tissue specificity.
DR MalaCards; VPS13B; -.
DR MIM; 216550; phenotype.
DR MIM; 607817; gene.
DR neXtProt; NX_Q7Z7G8; -.
DR OpenTargets; ENSG00000132549; -.
DR Orphanet; 193; Cohen syndrome.
DR PharmGKB; PA26699; -.
DR VEuPathDB; HostDB:ENSG00000132549; -.
DR eggNOG; KOG1809; Eukaryota.
DR GeneTree; ENSGT00940000154684; -.
DR HOGENOM; CLU_331741_0_0_1; -.
DR InParanoid; Q7Z7G8; -.
DR OMA; FDFIMIY; -.
DR OrthoDB; 82489at2759; -.
DR PhylomeDB; Q7Z7G8; -.
DR TreeFam; TF323503; -.
DR PathwayCommons; Q7Z7G8; -.
DR SignaLink; Q7Z7G8; -.
DR SIGNOR; Q7Z7G8; -.
DR BioGRID-ORCS; 157680; 11 hits in 1079 CRISPR screens.
DR ChiTaRS; VPS13B; human.
DR GenomeRNAi; 157680; -.
DR Pharos; Q7Z7G8; Tbio.
DR PRO; PR:Q7Z7G8; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q7Z7G8; protein.
DR Bgee; ENSG00000132549; Expressed in sural nerve and 208 other tissues.
DR ExpressionAtlas; Q7Z7G8; baseline and differential.
DR Genevisible; Q7Z7G8; HS.
DR GO; GO:0002080; C:acrosomal membrane; ISS:UniProtKB.
DR GO; GO:0033106; C:cis-Golgi network membrane; IDA:UniProtKB.
DR GO; GO:0033116; C:endoplasmic reticulum-Golgi intermediate compartment membrane; IDA:UniProtKB.
DR GO; GO:0000139; C:Golgi membrane; IDA:UniProtKB.
DR GO; GO:0032588; C:trans-Golgi network membrane; IDA:UniProtKB.
DR GO; GO:0001675; P:acrosome assembly; ISS:UniProtKB.
DR GO; GO:0060612; P:adipose tissue development; IMP:UniProtKB.
DR GO; GO:0007417; P:central nervous system development; ISS:UniProtKB.
DR GO; GO:0007030; P:Golgi organization; IMP:UniProtKB.
DR GO; GO:0090168; P:Golgi reassembly; IMP:UniProtKB.
DR GO; GO:0006869; P:lipid transport; IEA:UniProtKB-KW.
DR GO; GO:0031175; P:neuron projection development; TAS:UniProtKB.
DR InterPro; IPR026854; VPS13-like_N.
DR InterPro; IPR031645; VPS13_C.
DR InterPro; IPR009543; VPS13_VAB.
DR InterPro; IPR039782; VPS13B.
DR PANTHER; PTHR12517; PTHR12517; 1.
DR Pfam; PF12624; Chorein_N; 1.
DR Pfam; PF06650; SHR-BD; 1.
DR Pfam; PF16909; VPS13_C; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disease variant; Lipid transport; Obesity;
KW Phosphoprotein; Reference proteome; Transport.
FT CHAIN 1..4022
FT /note="Intermembrane lipid transfer protein VPS13B"
FT /id="PRO_0000065880"
FT DOMAIN 2..102
FT /note="Chorein N-terminal"
FT /evidence="ECO:0000255"
FT DOMAIN 2631..2716
FT /note="SHR-BD"
FT /evidence="ECO:0000255"
FT REGION 100..134
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1247..1314
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1860..1880
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 101..125
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1862..1876
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 414
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 999
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1002
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1033
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1815
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 403..415
FT /note="LTEMQVESSYYSP -> VGLFSCCLYLYQL (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:12730828,
FT ECO:0000303|PubMed:14702039"
FT /id="VSP_009404"
FT VAR_SEQ 416..4022
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:12730828,
FT ECO:0000303|PubMed:14702039"
FT /id="VSP_009405"
FT VAR_SEQ 839..863
FT /note="GVKSKNPLPTLEGSIQNVELKYCST -> EIGSCYVAQVDLELLASNDPPTS
FT TS (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:12730828"
FT /id="VSP_009406"
FT VAR_SEQ 864..4022
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:12730828"
FT /id="VSP_009407"
FT VAR_SEQ 977
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039837"
FT VAR_SEQ 1386..1433
FT /note="SLGEECWSLGQCGGVFLSCTDKLNRRTLLVRPISKQDPFSNCSGFFPS ->
FT RPGEGWQSGHFEGVFLQCKEKSV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12730828,
FT ECO:0000303|PubMed:15498460"
FT /id="VSP_009408"
FT VAR_SEQ 1386..1427
FT /note="SLGEECWSLGQCGGVFLSCTDKLNRRTLLVRPISKQDPFSNC -> RPGEGW
FT QSGHFEGVFLQCKEKSVPWGRVLVFGAMWRCLPFLY (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12730828"
FT /id="VSP_009409"
FT VAR_SEQ 1428..4022
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12730828"
FT /id="VSP_009410"
FT VARIANT 829
FT /note="A -> T (in dbSNP:rs61753721)"
FT /evidence="ECO:0000269|PubMed:16648375"
FT /id="VAR_058749"
FT VARIANT 866
FT /note="V -> I (in dbSNP:rs150185067)"
FT /evidence="ECO:0000269|PubMed:16648375"
FT /id="VAR_058750"
FT VARIANT 1138
FT /note="P -> L (in dbSNP:rs35342235)"
FT /id="VAR_057750"
FT VARIANT 1494
FT /note="Missing (in COH1; dbSNP:rs386834088)"
FT /evidence="ECO:0000269|PubMed:19006247"
FT /id="VAR_058751"
FT VARIANT 1739..1744
FT /note="Missing (in COH1)"
FT /id="VAR_058752"
FT VARIANT 1994
FT /note="I -> V (in dbSNP:rs139640224)"
FT /evidence="ECO:0000269|PubMed:16648375"
FT /id="VAR_058753"
FT VARIANT 2193
FT /note="L -> R (in COH1; unknown pathological significance;
FT dbSNP:rs120074149)"
FT /evidence="ECO:0000269|PubMed:12730828"
FT /id="VAR_017759"
FT VARIANT 2341
FT /note="Y -> C (in COH1; dbSNP:rs386834104)"
FT /evidence="ECO:0000269|PubMed:15154116"
FT /id="VAR_038422"
FT VARIANT 2481
FT /note="V -> I (found in a patient with intellectual
FT disability and facial dysmorphisms; dbSNP:rs201963516)"
FT /evidence="ECO:0000269|PubMed:23033978"
FT /id="VAR_069429"
FT VARIANT 2584
FT /note="V -> A (in dbSNP:rs7833870)"
FT /id="VAR_057751"
FT VARIANT 2645
FT /note="G -> D (in COH1; dbSNP:rs120074153)"
FT /evidence="ECO:0000269|PubMed:15154116"
FT /id="VAR_038423"
FT VARIANT 2773
FT /note="S -> L (in COH1; dbSNP:rs180177370)"
FT /evidence="ECO:0000269|PubMed:16648375"
FT /id="VAR_058754"
FT VARIANT 2820
FT /note="I -> T (in COH1; dbSNP:rs120074155)"
FT /evidence="ECO:0000269|PubMed:15211651"
FT /id="VAR_058755"
FT VARIANT 2822
FT /note="Y -> C (in dbSNP:rs371325199)"
FT /evidence="ECO:0000269|PubMed:16648375"
FT /id="VAR_058756"
FT VARIANT 2993
FT /note="N -> S (in COH1; dbSNP:rs28940272)"
FT /evidence="ECO:0000269|PubMed:15141358"
FT /id="VAR_038424"
FT VARIANT 3001
FT /note="L -> V (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036325"
FT VARIANT 3142
FT /note="S -> R"
FT /evidence="ECO:0000269|PubMed:16648375"
FT /id="VAR_058757"
FT VARIANT 3432
FT /note="G -> R (in dbSNP:rs6468694)"
FT /id="VAR_057752"
FT CONFLICT 401
FT /note="F -> S (in Ref. 3; BAA91275)"
FT /evidence="ECO:0000305"
FT CONFLICT 544
FT /note="M -> V (in Ref. 1; AAP41102/AAP41103/AAP41104/
FT AAP41105 and 3; BAC03664)"
FT /evidence="ECO:0000305"
FT CONFLICT 618
FT /note="D -> N (in Ref. 1; AAP41102/AAP41103/AAP41104/
FT AAP41105 and 3; BAC03664)"
FT /evidence="ECO:0000305"
FT CONFLICT 1387
FT /note="L -> H (in Ref. 1; AAP41102)"
FT /evidence="ECO:0000305"
FT CONFLICT 1401
FT /note="F -> I (in Ref. 1; AAP41102)"
FT /evidence="ECO:0000305"
FT CONFLICT 1425
FT /note="S -> R (in Ref. 1; AAP41102)"
FT /evidence="ECO:0000305"
FT CONFLICT 1673
FT /note="A -> D (in Ref. 1; AAP41102/AAP41103)"
FT /evidence="ECO:0000305"
FT VARIANT Q7Z7G8-5:413..415
FT /note="Missing (in dbSNP:rs7460625)"
FT /evidence="ECO:0000305"
FT /id="VAR_082932"
SQ SEQUENCE 4022 AA; 448664 MW; 35B79EE13730AFE3 CRC64;
MLESYVTPIL MSYVNRYIKN LKPSDLQLSL WGGDVVLSKL ELKLDVLEQE LKLPFTFLSG
HIHELRIHVP WTKLGSEPVV ITINTMECIL KLKDGIQDDH ESCGSNSTNR STAESTKSSI
KPRRMQQAAP TDPDLPPGYV QSLIRRVVNN VNIVINNLIL KYVEDDIVLS VNITSAECYT
VGELWDRAFM DISATDLVLR KVINFSDCTV CLDKRNASGK IEFYQDPLLY KCSFRTRLHF
TYENLNSKMP SVIKIHTLVE SLKLSITDQQ LPMFIRIMQL GIALYYGEIG NFKEGEIEDL
TCHNKDMLGN ITGSEDETRI DMQYPAQHKG QELYSQQDEE QPQGWVSWAW SFVPAIVSYD
DGEEDFVGND PASTMHQQKA QTLKDPIVSI GFYCTKATVT FKLTEMQVES SYYSPQKVKS
KEVLCWEQEG TTVEALMMGE PFFDCQIGFV GCRAMCLKGI MGVKDFEENM NRSETEACFF
ICGDNLSTKG FTYLTNSLFD YRSPENNGTR AEFILDSTHH KETYTEIAGM QRFGAFYMDY
LYTMENTSGK GSTNQQDFSS GKSEDLGTVQ EKSTKSLVIG PLDFRLDSSA VHRILKMIVC
ALEHEYEPYS RLKSDIKDEN ETILNPEEVA LLEEYIPTRH TSVTLLKCTC TISMAEFNLL
DHLLPVIMGE KNSSNFMNTT NFQSLRPLPS IRILVDKINL EHSVPMYAEQ LVHVVSSLTQ
PSDNLLHYCY VHCYLKIFGF QAGLTSLDCS GSYCLPVPVI PSFSTALYGK LLKLPTCWTK
RSQIAITEGI FELPNLTIQA TRAQTLLLQA IYQSWSHLGN VSSSAVIEAL INEIFLSIGV
KSKNPLPTLE GSIQNVELKY CSTSLVKCAS GTMGSIKICA KAPVDSGKEK LIPLLQGPSD
TKDLHSTKWL NESRKPESLL APDLMAFTIQ VPQYIDYCHN SGAVLLCSIQ GLAVNIDPIL
YTWLIYQPQK RTSRHMQQQP VVAVPLVMPV CRRKEDEVSI GSAPLAKQQS YQASEYASSP
VKTKTVTESR PLSVPVKAML NISESCRSPE ERMKEFIGIV WNAVKHLTLQ LEVQSCCVFI
PNDSLPSPST IVSGDIPGTV RSWYHGQTSM PGTLVLCLPQ IKIISAGHKY MEPLQEIPFV
IPRPILEEGD AFPWTISLHN FSIYTLLGKQ VTLCLVEPMG CTSTLAVTSQ KLLATGPDTR
HSFVVCLHVD LESLEIKCSN PQVQLFYELT DIMNKVWNKI QKRGNLNLSP TSPETMAGPV
PTSPVRSSIG TAPPDTSTCS PSADIGTTTE GDSIQAGEES PFSDSVTLEQ TTSNIGGTSG
RVSLWMQWVL PKITIKLFAP DPENKGTEVC MVSELEDLSA SIDVQDVYTK VKCKIESFNI
DHYRSSLGEE CWSLGQCGGV FLSCTDKLNR RTLLVRPISK QDPFSNCSGF FPSTTTKLLD
GTHQQHGFLS LTYTKAVTKN VRHKLTSRNE RRSFHKLSEG LMDGSPHFLH EILLSAQAFD
IVLYFPLLNA IASIFQAKLP KTQKEKRKSP GQPMRTHTLT SRNLPLIYVN TSVIRIFIPK
TEEMQPTVEA NQAAKEDTVV LKIGSVAMAP QADNPLGRSV LRKDIYQRAL NLGILRDPGS
EIEDRQYQID LQSINIGTAQ WHQLKPEKES VSGGVVTETE RNSQNPALEW NMASSIRRHQ
ERRAILTPVL TDFSVRITGA PAVIFTKVVS PENLHTEEIL VCGHSLEVNI TTNLDFFLSV
AQVQLLHQLI VANMTGLEPS NKAAEISKQE QKKVDIFDGG MAETSSRYSG AQDSGIGSDS
VKIRIVQIEQ HSGASQHRIA RPSRQSSIVK NLNFIPFDIF ITASRISLMT YSCMALSKSK
SQEQKNNEKT DKSSLNLPEV DSDVAKPNQA CISTVTAEDL LRSSISFPSG KKIGVLSLES
LHASTRSSAR QALGITIVRQ PGRRGTGDLQ LEPFLYFIVS QPSLLLSCHH RKQRVEVSIF
DAVLKGVASD YKCIDPGKTL PEALDYCTVW LQTVPGEIDS KSGIPPSFIT LQIKDFLNGP
ADVNLDISKP LKANLSFTKL DQINLFLKKI KNAHSLAHSE ETSAMSNTMV NKDDLPVSKY
YRGKLSKPKI HGDGVQKISA QENMWRAVSC FQKISVQTTQ IVISMETVPH TSKPCLLASL
SNLNGSLSVK ATQKVPGIIL GSSFLLSIND FLLKTSLKER SRILIGPCCA TANLEAKWCK
HSGNPGPEQS IPKISIDLRG GLLQVFWGQE HLNCLVLLHE LLNGYLNEEG NFEVQVSEPV
PQMSSPVEKN QTFKSEQSSD DLRTGLFQYV QDAESLKLPG VYEVLFYNET EDCPGMMLWR
YPEPRVLTLV RITPVPFNTT EDPDISTADL GDVLQVPCSL EYWDELQKVF VAFREFNLSE
SKVCELQLPD INLVNDQKKL VSSDLWRIVL NSSQNGADDQ SSASESGSQS TCDPLVTPTA
LAACTRVDSC FTPWFVPSLC VSFQFAHLEF HLCHHLDQLG TAAPQYLQPF VSDRNMPSEL
EYMIVSFREP HMYLRQWNNG SVCQEIQFLA QADCKLLECR NVTMQSVVKP FSIFGQMAVS
SDVVEKLLDC TVIVDSVFVN LGQHVVHSLN TAIQAWQQNK CPEVEELVFS HFVICNDTQE
TLRFGQVDTD ENILLASLHS HQYSWRSHKS PQLLHICIEG WGNWRWSEPF SVDHAGTFIR
TIQYRGRTAS LIIKVQQLNG VQKQIIICGR QIICSYLSQS IELKVVQHYI GQDGQAVVRE
HFDCLTAKQK LPSYILENNE LTELCVKAKG DEDWSRDVCL ESKAPEYSIV IQVPSSNSSI
IYVWCTVLTL EPNSQVQQRM IVFSPLFIMR SHLPDPIIIH LEKRSLGLSE TQIIPGKGQE
KPLQNIEPDL VHHLTFQARE EYDPSDCAVP ISTSLIKQIA TKVHPGGTVN QILDEFYGPE
KSLQPIWPYN KKDSDRNEQL SQWDSPMRVK LSIWKPYVRT LLIELLPWAL LINESKWDLW
LFEGEKIVLQ VPAGKIIIPP NFQEAFQIGI YWANTNTVHK SVAIKLVHNL TSPKWKDGGN
GEVVTLDEEA FVDTEIRLGA FPGHQKLCQF CISSMVQQGI QIIQIEDKTT IINNTPYQIF
YKPQLSVCNP HSGKEYFRVP DSATFSICPG GEQPAMKSSS LPCWDLMPDI SQSVLDASLL
QKQIMLGFSP APGADSSQCW SLPAIVRPEF PRQSVAVPLG NFRENGFCTR AIVLTYQEHL
GVTYLTLSED PSPRVIIHNR CPVKMLIKEN IKDIPKFEVY CKKIPSECSI HHELYHQISS
YPDCKTKDLL PSLLLRVEPL DEVTTEWSDA IDINSQGTQV VFLTGFGYVY VDVVHQCGTV
FITVAPEGKA GPILTNTNRA PEKIVTFKMF ITQLSLAVFD DLTHHKASAE LLRLTLDNIF
LCVAPGAGPL PGEEPVAALF ELYCVEICCG DLQLDNQLYN KSNFHFAVLV CQGEKAEPIQ
CSKMQSLLIS NKELEEYKEK CFIKLCITLN EGKSILCDIN EFSFELKPAR LYVEDTFVYY
IKTLFDTYLP NSRLAGHSTH LSGGKQVLPM QVTQHARALV NPVKLRKLVI QPVNLLVSIH
ASLKLYIASD HTPLSFSVFE RGPIFTTARQ LVHALAMHYA AGALFRAGWV VGSLDILGSP
ASLVRSIGNG VADFFRLPYE GLTRGPGAFV SGVSRGTTSF VKHISKGTLT SITNLATSLA
RNMDRLSLDE EHYNRQEEWR RQLPESLGEG LRQGLSRLGI SLLGAIAGIV DQPMQNFQKT
SEAQASAGHK AKGVISGVGK GIMGVFTKPI GGAAELVSQT GYGILHGAGL SQLPKQRHQP
SDLHADQAPN SHVKYVWKML QSLGRPEVHM ALDVVLVRGS GQEHEGCLLL TSEVLFVVSV
SEDTQQQAFP VTEIDCAQDS KQNNLLTVQL KQPRVACDVE VDGVRERLSE QQYNRLVDYI
TKTSCHLAPS CSSMQIPCPV VAAEPPPSTV KTYHYLVDPH FAQVFLSKFT MVKNKALRKG
FP
