TBC3L_HUMAN
ID TBC3L_HUMAN Reviewed; 549 AA.
AC B9A6J9;
DT 07-JAN-2015, integrated into UniProtKB/Swiss-Prot.
DT 24-MAR-2009, sequence version 1.
DT 03-AUG-2022, entry version 88.
DE RecName: Full=TBC1 domain family member 3L {ECO:0000312|HGNC:HGNC:51246};
GN Name=TBC1D3L {ECO:0000312|HGNC:HGNC:51246};
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 [MRNA].
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 [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 -!- 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 EMBL; AB449884; BAH16627.1; -; mRNA.
DR CCDS; CCDS74043.1; -.
DR RefSeq; NP_001278388.1; NM_001291459.1.
DR AlphaFoldDB; B9A6J9; -.
DR SMR; B9A6J9; -.
DR BioMuta; TBC1D3L; -.
DR MassIVE; B9A6J9; -.
DR PeptideAtlas; B9A6J9; -.
DR PRIDE; B9A6J9; -.
DR Antibodypedia; 77508; 2 antibodies from 2 providers.
DR DNASU; 101060376; -.
DR Ensembl; ENST00000612727.5; ENSP00000481508.1; ENSG00000274512.6.
DR Ensembl; ENST00000617678.2; ENSP00000479577.1; ENSG00000274512.6.
DR GeneID; 101060376; -.
DR KEGG; hsa:101060376; -.
DR MANE-Select; ENST00000612727.5; ENSP00000481508.1; NM_001369500.1; NP_001356429.1.
DR UCSC; uc002hpp.3; human.
DR CTD; 101060376; -.
DR GeneCards; TBC1D3L; -.
DR HGNC; HGNC:51246; TBC1D3L.
DR HPA; ENSG00000274512; Low tissue specificity.
DR neXtProt; NX_B9A6J9; -.
DR OpenTargets; ENSG00000274512; -.
DR VEuPathDB; HostDB:ENSG00000274512; -.
DR eggNOG; KOG1102; Eukaryota.
DR GeneTree; ENSGT00940000163624; -.
DR HOGENOM; CLU_005350_10_5_1; -.
DR OMA; TIFHQCV; -.
DR OrthoDB; 976276at2759; -.
DR BioGRID-ORCS; 101060376; 4 hits in 89 CRISPR screens.
DR ChiTaRS; TBC1D3L; human.
DR GenomeRNAi; 101060376; -.
DR Pharos; B9A6J9; Tdark.
DR PRO; PR:B9A6J9; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; B9A6J9; protein.
DR Bgee; ENSG00000274512; Expressed in lower esophagus mucosa and 94 other tissues.
DR Genevisible; B9A6J9; 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 3L"
FT /id="PRO_0000431608"
FT DOMAIN 101..293
FT /note="Rab-GAP TBC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00163"
FT REGION 350..423
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; 42C68A2F05DCFF24 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 TRKQGDLQPP
AKPEQGSSAS RPVPASRGGK TLCKGDRQAP PGPPARFPRP IWSASPPRAP RSSTPCPGGA
VREDTYPVGT QGVPSPALAQ GGPQGSWRFL QWNSMPRLPT DLDVEGPWFR HYDFRQSCWV
RAISQEDQLA PCWQAEHPAE RVRSAFAAPS TDSDQGTPFR ARDEQPCAPT SGPCLCGLHL
ESSQFPPGF
