TBC16_HUMAN
ID TBC16_HUMAN Reviewed; 767 AA.
AC Q8TBP0; B9A6L7; I3L1E0; I3L4U2; Q8N3Z4; Q96DH7;
DT 15-FEB-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2002, sequence version 1.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=TBC1 domain family member 16;
GN Name=TBC1D16;
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 [MRNA] (ISOFORM 1).
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 [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 NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
RC TISSUE=Mammary gland, and Urinary bladder;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: May act as a GTPase-activating protein for Rab family
CC protein(s).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q8TBP0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TBP0-2; Sequence=VSP_053995, VSP_053996;
CC Name=3;
CC IsoId=Q8TBP0-3; Sequence=VSP_055665, VSP_055668;
CC Name=4;
CC IsoId=Q8TBP0-4; Sequence=VSP_055666, VSP_055667;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH01525.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB449902; BAH16645.1; -; mRNA.
DR EMBL; AC100791; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC116025; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471099; EAW89575.1; -; Genomic_DNA.
DR EMBL; CH471099; EAW89576.1; -; Genomic_DNA.
DR EMBL; BC001525; AAH01525.2; ALT_INIT; mRNA.
DR EMBL; BC028290; AAH28290.1; -; mRNA.
DR EMBL; BC036947; AAH36947.1; -; mRNA.
DR CCDS; CCDS11766.1; -. [Q8TBP0-1]
DR CCDS; CCDS62351.1; -. [Q8TBP0-2]
DR CCDS; CCDS62352.1; -. [Q8TBP0-3]
DR CCDS; CCDS62353.1; -. [Q8TBP0-4]
DR RefSeq; NP_001258773.1; NM_001271844.1. [Q8TBP0-4]
DR RefSeq; NP_001258774.1; NM_001271845.1. [Q8TBP0-2]
DR RefSeq; NP_001258775.1; NM_001271846.1. [Q8TBP0-3]
DR RefSeq; NP_061893.2; NM_019020.3. [Q8TBP0-1]
DR RefSeq; XP_005257106.1; XM_005257049.2.
DR RefSeq; XP_006721757.1; XM_006721694.3. [Q8TBP0-1]
DR AlphaFoldDB; Q8TBP0; -.
DR SMR; Q8TBP0; -.
DR BioGRID; 125913; 28.
DR IntAct; Q8TBP0; 8.
DR STRING; 9606.ENSP00000309794; -.
DR iPTMnet; Q8TBP0; -.
DR PhosphoSitePlus; Q8TBP0; -.
DR BioMuta; TBC1D16; -.
DR DMDM; 59798967; -.
DR EPD; Q8TBP0; -.
DR jPOST; Q8TBP0; -.
DR MassIVE; Q8TBP0; -.
DR MaxQB; Q8TBP0; -.
DR PaxDb; Q8TBP0; -.
DR PeptideAtlas; Q8TBP0; -.
DR PRIDE; Q8TBP0; -.
DR ProteomicsDB; 46613; -.
DR ProteomicsDB; 47595; -.
DR ProteomicsDB; 71856; -.
DR ProteomicsDB; 74035; -. [Q8TBP0-1]
DR Antibodypedia; 19757; 70 antibodies from 18 providers.
DR DNASU; 125058; -.
DR Ensembl; ENST00000310924.7; ENSP00000309794.2; ENSG00000167291.16. [Q8TBP0-1]
DR Ensembl; ENST00000340848.11; ENSP00000341517.7; ENSG00000167291.16. [Q8TBP0-2]
DR Ensembl; ENST00000572862.5; ENSP00000458766.1; ENSG00000167291.16. [Q8TBP0-3]
DR Ensembl; ENST00000576768.5; ENSP00000461522.1; ENSG00000167291.16. [Q8TBP0-4]
DR GeneID; 125058; -.
DR KEGG; hsa:125058; -.
DR MANE-Select; ENST00000310924.7; ENSP00000309794.2; NM_019020.4; NP_061893.2.
DR UCSC; uc002jxg.3; human. [Q8TBP0-1]
DR CTD; 125058; -.
DR DisGeNET; 125058; -.
DR GeneCards; TBC1D16; -.
DR HGNC; HGNC:28356; TBC1D16.
DR HPA; ENSG00000167291; Low tissue specificity.
DR MIM; 616637; gene.
DR neXtProt; NX_Q8TBP0; -.
DR OpenTargets; ENSG00000167291; -.
DR PharmGKB; PA134881634; -.
DR VEuPathDB; HostDB:ENSG00000167291; -.
DR eggNOG; KOG2224; Eukaryota.
DR GeneTree; ENSGT00940000158541; -.
DR HOGENOM; CLU_013545_0_0_1; -.
DR InParanoid; Q8TBP0; -.
DR OMA; KLCEVFQ; -.
DR OrthoDB; 1495285at2759; -.
DR PhylomeDB; Q8TBP0; -.
DR TreeFam; TF314212; -.
DR PathwayCommons; Q8TBP0; -.
DR Reactome; R-HSA-8854214; TBC/RABGAPs.
DR SignaLink; Q8TBP0; -.
DR BioGRID-ORCS; 125058; 27 hits in 1071 CRISPR screens.
DR ChiTaRS; TBC1D16; human.
DR GenomeRNAi; 125058; -.
DR Pharos; Q8TBP0; Tbio.
DR PRO; PR:Q8TBP0; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8TBP0; protein.
DR Bgee; ENSG00000167291; Expressed in parotid gland and 180 other tissues.
DR ExpressionAtlas; Q8TBP0; baseline and differential.
DR Genevisible; Q8TBP0; HS.
DR GO; GO:0005829; C:cytosol; IDA:UniProtKB.
DR GO; GO:0005769; C:early endosome; IDA:UniProtKB.
DR GO; GO:0005096; F:GTPase activator activity; IDA:UniProtKB.
DR GO; GO:0090630; P:activation of GTPase activity; IBA:GO_Central.
DR GO; GO:0001919; P:regulation of receptor recycling; IDA:UniProtKB.
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; 2.
DR PROSITE; PS50086; TBC_RABGAP; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; GTPase activation; Reference proteome.
FT CHAIN 1..767
FT /note="TBC1 domain family member 16"
FT /id="PRO_0000208044"
FT DOMAIN 425..635
FT /note="Rab-GAP TBC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00163"
FT REGION 93..138
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 169..228
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 729..767
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 177..195
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 196..210
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 747..761
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..364
FT /note="MSLGRLLRRASSKASDLLTLTPGGSGSGSPSVLDGEIIYSKNNVCVHPPEGL
FT QGLGEHHPGYLCLYMEKDEMLGATLILAWVPNSRIQRQDEEALRYITPESSPVRKAPRP
FT RGRRTRSSGASHQPSPTELRPTLTPKDEDILVVAQSVPDRMLASPAPEDEEKLAQGLGV
FT DGAQPASQPACSPSGILSTVSPQDVTEEGREPRPEAGEEDGSLELSAEGVSRDSSFDSD
FT SDTFSSPFCLSPISAALAESRGSVFLESDSSPPSSSDAGLRFPDSNGLLQTPRWDEPQR
FT VCALEQICGVFRVDLGHMRSLRLFFSDEACTSGQLVVASRESQYKVFHFHHGGLDKLSD
FT VFQQWKYCTEMQLKDQQ -> MK (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_055665"
FT VAR_SEQ 1..363
FT /note="MSLGRLLRRASSKASDLLTLTPGGSGSGSPSVLDGEIIYSKNNVCVHPPEGL
FT QGLGEHHPGYLCLYMEKDEMLGATLILAWVPNSRIQRQDEEALRYITPESSPVRKAPRP
FT RGRRTRSSGASHQPSPTELRPTLTPKDEDILVVAQSVPDRMLASPAPEDEEKLAQGLGV
FT DGAQPASQPACSPSGILSTVSPQDVTEEGREPRPEAGEEDGSLELSAEGVSRDSSFDSD
FT SDTFSSPFCLSPISAALAESRGSVFLESDSSPPSSSDAGLRFPDSNGLLQTPRWDEPQR
FT VCALEQICGVFRVDLGHMRSLRLFFSDEACTSGQLVVASRESQYKVFHFHHGGLDKLSD
FT VFQQWKYCTEMQLKDQ -> MK (in isoform 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_055666"
FT VAR_SEQ 1..2
FT /note="MS -> MK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_053995"
FT VAR_SEQ 3..364
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_053996"
FT VAR_SEQ 420..433
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_055667"
FT VAR_SEQ 637..767
FT /note="TDYFHLFICVAIVAIYGDDVIEQQLATDQMLLHFGNLAMHMNGELVLRKARS
FT LLYQFRLLPRIPCSLHDLCKLCGSGMWDSGSMPAVECTGHHPGSESCPYGGTVEMPSPK
FT SLREGKKGPKTPQDGFGFRR -> GADV (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_055668"
FT VARIANT 476
FT /note="E -> K (in dbSNP:rs34845477)"
FT /id="VAR_052542"
SQ SEQUENCE 767 AA; 86372 MW; 689CD184A9E6A37C CRC64;
MSLGRLLRRA SSKASDLLTL TPGGSGSGSP SVLDGEIIYS KNNVCVHPPE GLQGLGEHHP
GYLCLYMEKD EMLGATLILA WVPNSRIQRQ DEEALRYITP ESSPVRKAPR PRGRRTRSSG
ASHQPSPTEL RPTLTPKDED ILVVAQSVPD RMLASPAPED EEKLAQGLGV DGAQPASQPA
CSPSGILSTV SPQDVTEEGR EPRPEAGEED GSLELSAEGV SRDSSFDSDS DTFSSPFCLS
PISAALAESR GSVFLESDSS PPSSSDAGLR FPDSNGLLQT PRWDEPQRVC ALEQICGVFR
VDLGHMRSLR LFFSDEACTS GQLVVASRES QYKVFHFHHG GLDKLSDVFQ QWKYCTEMQL
KDQQVAPDKT CMQFSIRRPK LPSSETHPEE SMYKRLGVSA WLNHLNELGQ VEEEYKLRKA
IFFGGIDVSI RGEVWPFLLR YYSHESTSEE REALRLQKRK EYSEIQQKRL SMTPEEHRAF
WRNVQFTVDK DVVRTDRNNQ FFRGEDNPNV ESMRRILLNY AVYNPAVGYS QGMSDLVAPI
LAEVLDESDT FWCFVGLMQN TIFVSSPRDE DMEKQLLYLR ELLRLTHVRF YQHLVSLGED
GLQMLFCHRW LLLCFKREFP EAEALRIWEA CWAHYQTDYF HLFICVAIVA IYGDDVIEQQ
LATDQMLLHF GNLAMHMNGE LVLRKARSLL YQFRLLPRIP CSLHDLCKLC GSGMWDSGSM
PAVECTGHHP GSESCPYGGT VEMPSPKSLR EGKKGPKTPQ DGFGFRR
