TBC3C_HUMAN
ID TBC3C_HUMAN Reviewed; 549 AA.
AC Q6IPX1;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 07-JAN-2015, sequence version 3.
DT 03-AUG-2022, entry version 150.
DE RecName: Full=TBC1 domain family member 3C;
GN Name=TBC1D3C; Synonyms=TBC1D3D;
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 GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 [3]
RP NOMENCLATURE, AND TISSUE SPECIFICITY.
RX PubMed=16863688; DOI=10.1016/j.ygeno.2006.05.009;
RA Hodzic D., Kong C., Wainszelbaum M.J., Charron A.J., Su X., Stahl P.D.;
RT "TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues
RT located on chromosome 17q12.";
RL Genomics 88:731-736(2006).
RN [4]
RP MISCELLANEOUS, AND COPY NUMBER VARIATION.
RX PubMed=21030649; DOI=10.1126/science.1197005;
RA Sudmant P.H., Kitzman J.O., Antonacci F., Alkan C., Malig M., Tsalenko A.,
RA Sampas N., Bruhn L., Shendure J., Eichler E.E.;
RT "Diversity of human copy number variation and multicopy genes.";
RL Science 330:641-646(2010).
CC -!- FUNCTION: Acts as a GTPase activating protein for RAB5. Does not act on
CC RAB4 or RAB11 (By similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor
CC {ECO:0000250}. Note=Associated with lipid rafts. {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Expressed in pancreas, thymus and testis.
CC {ECO:0000269|PubMed:16863688}.
CC -!- PTM: Ubiquitinated by a CUL7-based E3 ligase, which leads to
CC proteasomal degradation. {ECO:0000250}.
CC -!- PTM: Palmitoylation is required for membrane localization and protects
CC TBC1D3 from ubiquitination. {ECO:0000250}.
CC -!- MISCELLANEOUS: TBC1D3 is encoded by a collection of very similar
CC paralogs with multiple copies of each paralog, some human genomes
CC encoding well over 50 copies depending on ethnic origin of the donor.
CC {ECO:0000305}.
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DR EMBL; AC233968; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC071680; AAH71680.1; -; mRNA.
DR CCDS; CCDS74045.1; -.
DR RefSeq; NP_001001418.5; NM_001001418.6.
DR RefSeq; NP_001116863.3; NM_001123391.3.
DR RefSeq; NP_001278391.1; NM_001291462.1.
DR AlphaFoldDB; Q6IPX1; -.
DR SMR; Q6IPX1; -.
DR BioGRID; 3190786; 8.
DR IntAct; Q6IPX1; 1.
DR iPTMnet; Q6IPX1; -.
DR PhosphoSitePlus; Q6IPX1; -.
DR BioMuta; TBC1D3C; -.
DR DMDM; 296452923; -.
DR MassIVE; Q6IPX1; -.
DR PeptideAtlas; Q6IPX1; -.
DR PRIDE; Q6IPX1; -.
DR Antibodypedia; 76589; 37 antibodies from 11 providers.
DR DNASU; 414060; -.
DR Ensembl; ENST00000622206.2; ENSP00000482345.1; ENSG00000278299.6.
DR GeneID; 101060321; -.
DR GeneID; 414060; -.
DR GeneID; 729873; -.
DR KEGG; hsa:101060321; -.
DR KEGG; hsa:414060; -.
DR KEGG; hsa:729873; -.
DR MANE-Select; ENST00000620215.3; ENSP00000478683.1; NM_001123391.4; NP_001116863.3.
DR MANE-Select; ENST00000622206.2; ENSP00000482345.1; NM_001001418.6; NP_001001418.5.
DR CTD; 101060321; -.
DR CTD; 414060; -.
DR CTD; 729873; -.
DR DisGeNET; 101060321; -.
DR DisGeNET; 414060; -.
DR DisGeNET; 729873; -.
DR GeneCards; TBC1D3C; -.
DR HGNC; HGNC:24889; TBC1D3C.
DR HPA; ENSG00000278299; Tissue enhanced (testis).
DR MIM; 610806; gene.
DR neXtProt; NX_Q6IPX1; -.
DR OpenTargets; ENSG00000274611; -.
DR PharmGKB; PA145007622; -.
DR VEuPathDB; HostDB:ENSG00000278299; -.
DR HOGENOM; CLU_005350_10_5_1; -.
DR InParanoid; Q6IPX1; -.
DR OMA; RCGQWAR; -.
DR OrthoDB; 976276at2759; -.
DR TreeFam; TF318099; -.
DR PathwayCommons; Q6IPX1; -.
DR SignaLink; Q6IPX1; -.
DR BioGRID-ORCS; 101060321; 27 hits in 147 CRISPR screens.
DR BioGRID-ORCS; 414060; 379 hits in 537 CRISPR screens.
DR BioGRID-ORCS; 729873; 38 hits in 564 CRISPR screens.
DR Pharos; Q6IPX1; Tdark.
DR PRO; PR:Q6IPX1; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q6IPX1; protein.
DR Bgee; ENSG00000278299; Expressed in granulocyte and 87 other tissues.
DR Genevisible; Q6IPX1; HS.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005096; F:GTPase activator activity; IBA:GO_Central.
DR GO; GO:0090630; P:activation of GTPase activity; 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; 1.
DR PROSITE; PS50086; TBC_RABGAP; 1.
PE 2: Evidence at transcript level;
KW Cell membrane; GTPase activation; Lipoprotein; Membrane; Palmitate;
KW Reference proteome; Ubl conjugation.
FT CHAIN 1..549
FT /note="TBC1 domain family member 3C"
FT /id="PRO_0000300265"
FT DOMAIN 101..293
FT /note="Rab-GAP TBC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00163"
FT REGION 350..419
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 391..413
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT LIPID 318
FT /note="S-palmitoyl cysteine"
FT /evidence="ECO:0000250"
FT LIPID 325
FT /note="S-palmitoyl cysteine"
FT /evidence="ECO:0000250"
FT CONFLICT 117
FT /note="T -> I (in Ref. 2; AAH71680)"
FT /evidence="ECO:0000305"
FT CONFLICT 149
FT /note="V -> I (in Ref. 2; AAH71680)"
FT /evidence="ECO:0000305"
FT CONFLICT 157
FT /note="I -> M (in Ref. 2; AAH71680)"
FT /evidence="ECO:0000305"
FT CONFLICT 354
FT /note="K -> Q (in Ref. 2; AAH71680)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 549 AA; 62187 MW; 12F56291F685F06E CRC64;
MDVVEVAGSW WAQEREDIIM KYEKGHRAGL PEDKGPKPFR SYNNNVDHLG IVHETELPPL
TAREAKQIRR EISRKSKWVD MLGDWEKYKS SRKLIDRAYK GMPMNIRGPM WSVLLNTEEM
KLKNPGRYQI MKEKGKRSSE HIQRIDRDVS GTLRKHIFFR DRYGTKQREL LHILLAYEEY
NPEVGYCRDL SHIAALFLLY LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE
HVVATSQPKT MGHQDKKDLC GQCSPLGCLI RILIDGISLG LTLRLWDVYL VEGEQALMPI
TRIAFKVQQK RLTKTSRCGP WARFCNRFVD TWARDEDTVL KHLRASMKKL TRKKGDLPPP
AKPEQGSSAS RPVPASRGGK TLCKGDRQAP PGPPARFPRP IWSASPPRAP RSSTPCPGGA
VREDTYPVGT QGVPSPALAQ GGPQGSWRFL QWNSMPRLPT DLDVEGPWFR HYDFRQSCWV
RAISQEDQLA PCWQAEHPAE RVRSAFAAPS TDSDQGTPFR ARDEQQCAPT SGPCLCGLHL
ESSQFPPGF
