TBC3H_HUMAN
ID TBC3H_HUMAN Reviewed; 549 AA.
AC P0C7X1; A6NH17; A8MZ78;
DT 22-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 11-JUN-2014, sequence version 3.
DT 03-AUG-2022, entry version 112.
DE RecName: Full=TBC1 domain family member 3H;
GN Name=TBC1D3H;
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}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor
CC {ECO:0000250}. Note=Associated with lipid rafts. {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Expressed in heart. {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; AC233698; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS45653.1; -.
DR RefSeq; NP_001116864.3; NM_001123392.3.
DR RefSeq; XP_006722118.1; XM_006722055.1.
DR AlphaFoldDB; P0C7X1; -.
DR SMR; P0C7X1; -.
DR IntAct; P0C7X1; 1.
DR MINT; P0C7X1; -.
DR STRING; 9606.ENSP00000482630; -.
DR iPTMnet; P0C7X1; -.
DR PhosphoSitePlus; P0C7X1; -.
DR BioMuta; TBC1D3H; -.
DR DMDM; 387912871; -.
DR MassIVE; P0C7X1; -.
DR PeptideAtlas; P0C7X1; -.
DR PRIDE; P0C7X1; -.
DR Antibodypedia; 72510; 51 antibodies from 9 providers.
DR DNASU; 729877; -.
DR Ensembl; ENST00000610350.4; ENSP00000482630.1; ENSG00000274226.6.
DR Ensembl; ENST00000619743.4; ENSP00000481632.1; ENSG00000277974.5.
DR GeneID; 729877; -.
DR KEGG; hsa:729877; -.
DR MANE-Select; ENST00000610350.4; ENSP00000482630.1; NM_001123392.4; NP_001116864.3.
DR UCSC; uc002hmc.5; human.
DR CTD; 729877; -.
DR GeneCards; TBC1D3H; -.
DR HGNC; HGNC:30708; TBC1D3H.
DR HPA; ENSG00000274226; Tissue enhanced (testis).
DR MIM; 610811; gene.
DR neXtProt; NX_P0C7X1; -.
DR PharmGKB; PA145007654; -.
DR VEuPathDB; HostDB:ENSG00000274226; -.
DR eggNOG; KOG1102; Eukaryota.
DR GeneTree; ENSGT00940000163624; -.
DR InParanoid; P0C7X1; -.
DR OMA; ECAGQCH; -.
DR OrthoDB; 976276at2759; -.
DR PhylomeDB; P0C7X1; -.
DR TreeFam; TF318099; -.
DR PathwayCommons; P0C7X1; -.
DR SignaLink; P0C7X1; -.
DR BioGRID-ORCS; 729877; 376 hits in 608 CRISPR screens.
DR GenomeRNAi; 729877; -.
DR Pharos; P0C7X1; Tdark.
DR PRO; PR:P0C7X1; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; P0C7X1; protein.
DR Bgee; ENSG00000274226; Expressed in right testis and 77 other tissues.
DR Genevisible; P0C7X1; 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 3H"
FT /id="PRO_0000344624"
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"
FT LIPID 325
FT /note="S-palmitoyl cysteine"
FT /evidence="ECO:0000250"
SQ SEQUENCE 549 AA; 62219 MW; 633C3C4D0AEC5F61 CRC64;
MDVVEVAGSW WAQEREDIIM KYEKGHRAGL PEDKGPKPFR SYNNNVDHLG IVHETELPPL
TAREAKQIRR EISRKSKWVD MLGDWEKYKS SRKLIDRAYK GMPMNIRGPM WSVLLNTEEM
KLKNPGRYQI MKEKGKRSSE HIQRIDRDIS GTLRKHMFFR 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
