TBC3E_HUMAN
ID TBC3E_HUMAN Reviewed; 549 AA.
AC A0A087X179;
DT 07-JAN-2015, integrated into UniProtKB/Swiss-Prot.
DT 29-OCT-2014, sequence version 1.
DT 03-AUG-2022, entry version 48.
DE RecName: Full=TBC1 domain family member 3E {ECO:0000312|HGNC:HGNC:27071};
GN Name=TBC1D3E {ECO:0000312|HGNC:HGNC:27071};
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 CCDS; CCDS77009.1; -.
DR RefSeq; NP_001278395.1; NM_001291466.1.
DR RefSeq; XP_006722317.1; XM_006722254.1.
DR AlphaFoldDB; A0A087X179; -.
DR SMR; A0A087X179; -.
DR IntAct; A0A087X179; 1.
DR STRING; 9606.ENSP00000483965; -.
DR BioMuta; TBC1D3E; -.
DR MassIVE; A0A087X179; -.
DR PeptideAtlas; A0A087X179; -.
DR Antibodypedia; 74218; 6 antibodies from 2 providers.
DR DNASU; 102723859; -.
DR Ensembl; ENST00000621587.2; ENSP00000483965.1; ENSG00000278599.6.
DR GeneID; 102723859; -.
DR KEGG; hsa:102723859; -.
DR MANE-Select; ENST00000621587.2; ENSP00000483965.1; NM_001291466.2; NP_001278395.1.
DR UCSC; uc032fgg.2; human.
DR CTD; 102723859; -.
DR DisGeNET; 102723859; -.
DR GeneCards; TBC1D3E; -.
DR HGNC; HGNC:27071; TBC1D3E.
DR HPA; ENSG00000278599; Tissue enhanced (testis).
DR neXtProt; NX_A0A087X179; -.
DR VEuPathDB; HostDB:ENSG00000278599; -.
DR eggNOG; KOG1102; Eukaryota.
DR GeneTree; ENSGT00940000163624; -.
DR OMA; SWRERQD; -.
DR OrthoDB; 976276at2759; -.
DR PathwayCommons; A0A087X179; -.
DR BioGRID-ORCS; 102723859; 5 hits in 84 CRISPR screens.
DR GenomeRNAi; 102723859; -.
DR Pharos; A0A087X179; Tdark.
DR PRO; PR:A0A087X179; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; A0A087X179; protein.
DR Bgee; ENSG00000278599; Expressed in mucosa of stomach and 81 other tissues.
DR Genevisible; A0A087X179; 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 3E"
FT /id="PRO_0000431605"
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|UniProtKB:Q8IZP1"
FT LIPID 325
FT /note="S-palmitoyl cysteine"
FT /evidence="ECO:0000250|UniProtKB:Q8IZP1"
SQ SEQUENCE 549 AA; 62131 MW; 97AA8FB61E0DE6EB CRC64;
MDVVEVAGSW WAQEREDIIM KYEKGHRAGL PEDKGPKPFR SYNNNVDHLG IVHETELPPL
TAREAKQIRR EISRKSKWVD MLGDWEKYKS SRKLIDQAYK GMPMNIRGPM WSVLLNTEEM
KLKNPGRYQI MKEKGKKSSE 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
