TBC3D_HUMAN
ID TBC3D_HUMAN Reviewed; 549 AA.
AC A0A087WVF3;
DT 07-JAN-2015, integrated into UniProtKB/Swiss-Prot.
DT 29-OCT-2014, sequence version 1.
DT 03-AUG-2022, entry version 49.
DE RecName: Full=TBC1 domain family member 3D {ECO:0000312|HGNC:HGNC:28944};
GN Name=TBC1D3D {ECO:0000312|HGNC:HGNC:28944};
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 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 [3]
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|UniProtKB:Q8IZP1}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8IZP1};
CC Lipid-anchor {ECO:0000250|UniProtKB:Q8IZP1}. Note=Associated with lipid
CC rafts. {ECO:0000250|UniProtKB:Q8IZP1}.
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|UniProtKB:Q8IZP1}.
CC -!- PTM: Palmitoylation is required for membrane localization and protects
CC TBC1D3 from ubiquitination. {ECO:0000250|UniProtKB:Q8IZP1}.
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; AC243569; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS74044.1; -.
DR RefSeq; NP_001278394.1; NM_001291465.1.
DR AlphaFoldDB; A0A087WVF3; -.
DR SMR; A0A087WVF3; -.
DR IntAct; A0A087WVF3; 1.
DR STRING; 9606.ENSP00000478426; -.
DR BioMuta; TBC1D3D; -.
DR MassIVE; A0A087WVF3; -.
DR PeptideAtlas; A0A087WVF3; -.
DR DNASU; 101060389; -.
DR Ensembl; ENST00000616101.4; ENSP00000478426.1; ENSG00000274419.6.
DR GeneID; 101060389; -.
DR KEGG; hsa:101060389; -.
DR MANE-Select; ENST00000616101.5; ENSP00000478426.1; NM_001291465.2; NP_001278394.1.
DR UCSC; uc032fex.2; human.
DR CTD; 101060389; -.
DR DisGeNET; 101060389; -.
DR GeneCards; TBC1D3D; -.
DR HGNC; HGNC:28944; TBC1D3D.
DR HPA; ENSG00000274419; Low tissue specificity.
DR neXtProt; NX_A0A087WVF3; -.
DR OpenTargets; ENSG00000274419; -.
DR VEuPathDB; HostDB:ENSG00000274419; -.
DR eggNOG; KOG1102; Eukaryota.
DR GeneTree; ENSGT00940000163624; -.
DR HOGENOM; CLU_005350_10_5_1; -.
DR OMA; MENSKHA; -.
DR OrthoDB; 976276at2759; -.
DR PathwayCommons; A0A087WVF3; -.
DR BioGRID-ORCS; 101060389; 5 hits in 58 CRISPR screens.
DR GenomeRNAi; 101060389; -.
DR Pharos; A0A087WVF3; Tdark.
DR PRO; PR:A0A087WVF3; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; A0A087WVF3; protein.
DR Bgee; ENSG00000274419; Expressed in mucosa of stomach and 92 other tissues.
DR Genevisible; A0A087WVF3; 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 3D"
FT /id="PRO_0000431604"
FT DOMAIN 101..293
FT /note="Rab-GAP TBC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00163"
FT REGION 350..443
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 507..526
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|UniProtKB:Q8IZP1"
FT LIPID 325
FT /note="S-palmitoyl cysteine"
FT /evidence="ECO:0000250|UniProtKB:Q8IZP1"
SQ SEQUENCE 549 AA; 62187 MW; 16677E6AF16CFE95 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 TRKQGDLPPP
AKPEQGSSAS RPVPASRGGK TLCKGDRQAP PGPPARFPRP IWSASPPRAP RSSTPCPGGA
VREDTYPVGT QGVPSPALAQ GGPQGSWRFL QWNSMPRLPT DLDVEGPWFR HYDFRQSCWV
RAISQEDQLA PCWQAEHPAE RVRSAFAAPS TDSDQGTPFR ARDEQQCAPT SGPCLCGLHL
ESSQFPPGF
