TBC3B_HUMAN
ID TBC3B_HUMAN Reviewed; 549 AA.
AC A6NDS4; A8K892;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 07-JAN-2015, sequence version 2.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=TBC1 domain family member 3B;
GN Name=TBC1D3B; Synonyms=TBC1D3I;
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 MRNA].
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
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 [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 -!- 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.
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DR EMBL; AK292257; BAF84946.1; -; mRNA.
DR EMBL; AC243829; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS42300.1; -.
DR RefSeq; NP_001001417.6; NM_001001417.6.
DR AlphaFoldDB; A6NDS4; -.
DR SMR; A6NDS4; -.
DR IntAct; A6NDS4; 1.
DR STRING; 9606.ENSP00000484556; -.
DR iPTMnet; A6NDS4; -.
DR PhosphoSitePlus; A6NDS4; -.
DR BioMuta; TBC1D3B; -.
DR MassIVE; A6NDS4; -.
DR PeptideAtlas; A6NDS4; -.
DR PRIDE; A6NDS4; -.
DR Antibodypedia; 75832; 8 antibodies from 4 providers.
DR DNASU; 414059; -.
DR Ensembl; ENST00000611257.5; ENSP00000478473.1; ENSG00000274808.6.
DR GeneID; 414059; -.
DR KEGG; hsa:414059; -.
DR MANE-Select; ENST00000611257.5; ENSP00000478473.1; NM_001001417.7; NP_001001417.6.
DR UCSC; uc032fbj.2; human.
DR CTD; 414059; -.
DR DisGeNET; 414059; -.
DR GeneCards; TBC1D3B; -.
DR HGNC; HGNC:27011; TBC1D3B.
DR HPA; ENSG00000274808; Tissue enhanced (testis).
DR MIM; 610144; gene.
DR neXtProt; NX_A6NDS4; -.
DR OpenTargets; ENSG00000274808; -.
DR PharmGKB; PA142670833; -.
DR VEuPathDB; HostDB:ENSG00000274808; -.
DR eggNOG; KOG1102; Eukaryota.
DR GeneTree; ENSGT00940000163624; -.
DR HOGENOM; CLU_005350_10_5_1; -.
DR InParanoid; A6NDS4; -.
DR OMA; HFFERVV; -.
DR OrthoDB; 976276at2759; -.
DR TreeFam; TF318099; -.
DR PathwayCommons; A6NDS4; -.
DR SignaLink; A6NDS4; -.
DR BioGRID-ORCS; 414059; 268 hits in 526 CRISPR screens.
DR GenomeRNAi; 414059; -.
DR Pharos; A6NDS4; Tdark.
DR PRO; PR:A6NDS4; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; A6NDS4; protein.
DR Bgee; ENSG00000274808; Expressed in right hemisphere of cerebellum and 92 other tissues.
DR ExpressionAtlas; A6NDS4; baseline and differential.
DR Genevisible; A6NDS4; 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 3B"
FT /id="PRO_0000300264"
FT DOMAIN 101..293
FT /note="Rab-GAP TBC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00163"
FT REGION 350..426
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 201
FT /note="L -> F (in Ref. 1; BAF84946)"
FT /evidence="ECO:0000305"
FT CONFLICT 379
FT /note="R -> G (in Ref. 1; BAF84946)"
FT /evidence="ECO:0000305"
FT CONFLICT 527
FT /note="C -> Y (in Ref. 1; BAF84946)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 549 AA; 62320 MW; 6AA476A73DAE152B CRC64;
MDVVEVAGSW WAQEREDIIM KYEKGHRAGL PEDKGPKPFR SYNNNVDHLG IVHETELPPL
TAREAKQIRR EISRKSKWVD MLGDWEKYKS SRKLIDRAYK GMPMNIRGPM WSVLLNIEEM
KLKNPGRYQI MKEKGKRSSE HIQRIDRDIS GTLRKHMFFR DRYGTKQREL LHILLAYEEY
NPEVGYCRDL SHIAALFLLY LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE
HVVATSQSKT MGHQDKKDLC GQCSPLGCLI RILIDGISLG LTLRLWDVYL VEGEQALMPI
TRIAFKVQQK RLTKTSRCGP WARFCNRFVD TWARDEDTVL KHLRASMKKL TRKQGDLPPP
AKPEQGSSAS RPVPASRGRK TLCKGDRQAP PGPPARFPRP IWSASPPRAP RSSTPCPGGA
VREDTYPVGT QGVPSPALAQ GGPQGSWRFL QWNSMPRLPT DLDVEGPWFR HYDFRQSCWV
RAISQEDQLA PCWQAEHPAE RVRSAFAAPS TDSDQGTPFR ARDEQQCAPT SGPCLCGLHL
ESSQFPPGF
