TBC13_HUMAN
ID TBC13_HUMAN Reviewed; 400 AA.
AC Q9NVG8; A7E2E7; B3KW04; B9EGJ8; Q5T270; Q5T271;
DT 16-FEB-2004, integrated into UniProtKB/Swiss-Prot.
DT 05-OCT-2010, sequence version 3.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=TBC1 domain family member 13;
GN Name=TBC1D13;
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] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=19077034; DOI=10.1111/j.1365-2443.2008.01251.x;
RA Ishibashi K., Kanno E., Itoh T., Fukuda M.;
RT "Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC)
RT protein that possesses Rab3A-GAP activity.";
RL Genes Cells 14:41-52(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 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=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ALA-190.
RC TISSUE=Brain, and Testis;
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 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., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: Acts as a GTPase-activating protein for RAB35. Together with
CC RAB35 may be involved in regulation of insulin-induced glucose
CC transporter SLC2A4/GLUT4 translocation to the plasma membrane in
CC adipocytes. {ECO:0000250|UniProtKB:Q8R3D1}.
CC -!- SUBUNIT: Interacts with RAB1A and RAB10; in a GTP-dependent manner.
CC {ECO:0000250|UniProtKB:Q8R3D1}.
CC -!- INTERACTION:
CC Q9NVG8; Q12774: ARHGEF5; NbExp=6; IntAct=EBI-12264956, EBI-602199;
CC Q9NVG8; O60664: PLIN3; NbExp=3; IntAct=EBI-12264956, EBI-725795;
CC Q9NVG8; A6NLX3: SPDYE4; NbExp=3; IntAct=EBI-12264956, EBI-12047907;
CC Q9NVG8; Q96N21: TEPSIN; NbExp=3; IntAct=EBI-12264956, EBI-11139477;
CC Q9NVG8; Q5T7W0: ZNF618; NbExp=3; IntAct=EBI-12264956, EBI-6255994;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q8R3D1}.
CC Cytoplasm {ECO:0000250|UniProtKB:Q8R3D1}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9NVG8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NVG8-2; Sequence=VSP_039845;
CC Name=3;
CC IsoId=Q9NVG8-3; Sequence=VSP_053994;
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DR EMBL; AB449899; BAH16642.1; -; mRNA.
DR EMBL; AK001605; BAA91784.1; -; mRNA.
DR EMBL; AK123828; BAG53966.1; -; mRNA.
DR EMBL; AK289777; BAF82466.1; -; mRNA.
DR EMBL; AL441992; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471090; EAW87832.1; -; Genomic_DNA.
DR EMBL; CH471090; EAW87833.1; -; Genomic_DNA.
DR EMBL; CH471090; EAW87835.1; -; Genomic_DNA.
DR EMBL; BC132817; AAI32818.1; -; mRNA.
DR EMBL; BC136509; AAI36510.1; -; mRNA.
DR EMBL; BC150311; AAI50312.1; -; mRNA.
DR CCDS; CCDS6911.1; -. [Q9NVG8-1]
DR CCDS; CCDS69677.1; -. [Q9NVG8-2]
DR RefSeq; NP_001273701.1; NM_001286772.1. [Q9NVG8-2]
DR RefSeq; NP_060671.3; NM_018201.4. [Q9NVG8-1]
DR AlphaFoldDB; Q9NVG8; -.
DR SMR; Q9NVG8; -.
DR BioGRID; 120091; 8.
DR IntAct; Q9NVG8; 6.
DR STRING; 9606.ENSP00000361731; -.
DR GlyGen; Q9NVG8; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9NVG8; -.
DR PhosphoSitePlus; Q9NVG8; -.
DR BioMuta; TBC1D13; -.
DR DMDM; 308153549; -.
DR EPD; Q9NVG8; -.
DR jPOST; Q9NVG8; -.
DR MassIVE; Q9NVG8; -.
DR MaxQB; Q9NVG8; -.
DR PaxDb; Q9NVG8; -.
DR PeptideAtlas; Q9NVG8; -.
DR PRIDE; Q9NVG8; -.
DR ProteomicsDB; 3773; -.
DR ProteomicsDB; 82793; -. [Q9NVG8-1]
DR ProteomicsDB; 82794; -. [Q9NVG8-2]
DR Antibodypedia; 31273; 141 antibodies from 20 providers.
DR DNASU; 54662; -.
DR Ensembl; ENST00000223865.8; ENSP00000223865.8; ENSG00000107021.16. [Q9NVG8-2]
DR Ensembl; ENST00000372648.10; ENSP00000361731.5; ENSG00000107021.16. [Q9NVG8-1]
DR GeneID; 54662; -.
DR KEGG; hsa:54662; -.
DR MANE-Select; ENST00000372648.10; ENSP00000361731.5; NM_018201.5; NP_060671.3.
DR UCSC; uc010myj.5; human. [Q9NVG8-1]
DR CTD; 54662; -.
DR DisGeNET; 54662; -.
DR GeneCards; TBC1D13; -.
DR HGNC; HGNC:25571; TBC1D13.
DR HPA; ENSG00000107021; Low tissue specificity.
DR MIM; 616218; gene.
DR neXtProt; NX_Q9NVG8; -.
DR OpenTargets; ENSG00000107021; -.
DR PharmGKB; PA134898118; -.
DR VEuPathDB; HostDB:ENSG00000107021; -.
DR eggNOG; KOG4567; Eukaryota.
DR GeneTree; ENSGT00940000158674; -.
DR HOGENOM; CLU_018687_0_0_1; -.
DR InParanoid; Q9NVG8; -.
DR OMA; IHICCAM; -.
DR PhylomeDB; Q9NVG8; -.
DR TreeFam; TF105911; -.
DR PathwayCommons; Q9NVG8; -.
DR Reactome; R-HSA-8854214; TBC/RABGAPs.
DR SignaLink; Q9NVG8; -.
DR BioGRID-ORCS; 54662; 12 hits in 1076 CRISPR screens.
DR ChiTaRS; TBC1D13; human.
DR GenomeRNAi; 54662; -.
DR Pharos; Q9NVG8; Tdark.
DR PRO; PR:Q9NVG8; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q9NVG8; protein.
DR Bgee; ENSG00000107021; Expressed in anterior cingulate cortex and 172 other tissues.
DR ExpressionAtlas; Q9NVG8; baseline and differential.
DR Genevisible; Q9NVG8; HS.
DR GO; GO:0005829; C:cytosol; IEA:Ensembl.
DR GO; GO:0016020; C:membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005096; F:GTPase activator activity; IBA:GO_Central.
DR GO; GO:0031267; F:small GTPase binding; IEA:Ensembl.
DR GO; GO:0090630; P:activation of GTPase activity; IBA:GO_Central.
DR GO; GO:0006886; P:intracellular protein transport; IBA:GO_Central.
DR InterPro; IPR000195; Rab-GTPase-TBC_dom.
DR InterPro; IPR035969; Rab-GTPase_TBC_sf.
DR Pfam; PF00566; RabGAP-TBC; 1.
DR SMART; SM00164; TBC; 1.
DR SUPFAM; SSF47923; SSF47923; 2.
DR PROSITE; PS50086; TBC_RABGAP; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; GTPase activation; Membrane;
KW Reference proteome.
FT CHAIN 1..400
FT /note="TBC1 domain family member 13"
FT /id="PRO_0000208038"
FT DOMAIN 35..345
FT /note="Rab-GAP TBC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00163"
FT VAR_SEQ 1..181
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_053994"
FT VAR_SEQ 182..306
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039845"
FT VARIANT 190
FT /note="V -> A (in dbSNP:rs1572912)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_070804"
FT CONFLICT 101
FT /note="P -> T (in Ref. 5; AAI50312)"
FT /evidence="ECO:0000305"
FT CONFLICT 223
FT /note="P -> H (in Ref. 5; AAI50312)"
FT /evidence="ECO:0000305"
FT CONFLICT 335
FT /note="I -> T (in Ref. 1; BAA91784)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 400 AA; 46554 MW; 9FD10CC4035ACC7F CRC64;
MSSLHKSRIA DFQDVLKEPS IALEKLRELS FSGIPCEGGL RCLCWKILLN YLPLERASWT
SILAKQRELY AQFLREMIIQ PGIAKANMGV SREDVTFEDH PLNPNPDSRW NTYFKDNEVL
LQIDKDVRRL CPDISFFQRA TDYPCLLILD PQNEFETLRK RVEQTTLKSQ TVARNRSGVT
NMSSPHKNSV PSSLNEYEVL PNGCEAHWEV VERILFIYAK LNPGIAYVQG MNEIVGPLYY
TFATDPNSEW KEHAEADTFF CFTNLMAEIR DNFIKSLDDS QCGITYKMEK VYSTLKDKDV
ELYLKLQEQN IKPQFFAFRW LTLLLSQEFL LPDVIRIWDS LFADDNRFDF LLLVCCAMLM
LIREQLLEGD FTVNMRLLQD YPITDVCQIL QKAKELQDSK
