TBC30_HUMAN
ID TBC30_HUMAN Reviewed; 924 AA.
AC Q9Y2I9; B3KP01; B9A6M9; E7EMW4; F5GYJ9;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 26-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=TBC1 domain family member 30;
GN Name=TBC1D30; Synonyms=KIAA0984;
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 2), VARIANT ILE-752, MUTAGENESIS OF
RP ARG-303, AND SUBCELLULAR LOCATION.
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 MRNA] (ISOFORM 3).
RC TISSUE=Brain;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 216-924.
RC TISSUE=Brain;
RX PubMed=10231032; DOI=10.1093/dnares/6.1.63;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 6:63-70(1999).
CC -!- FUNCTION: GTPase-activating protein (GAP) with broad specificity. Acts
CC as a GAP for RAB3A. Also exhibits significant GAP activity toward
CC RAB22A, RAB27A, and RAB35 in vitro.
CC -!- INTERACTION:
CC Q9Y2I9-2; Q8NHQ1: CEP70; NbExp=3; IntAct=EBI-17455779, EBI-739624;
CC Q9Y2I9-2; Q08379: GOLGA2; NbExp=3; IntAct=EBI-17455779, EBI-618309;
CC Q9Y2I9-2; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-17455779, EBI-5916454;
CC Q9Y2I9-2; Q4V328: GRIPAP1; NbExp=3; IntAct=EBI-17455779, EBI-717919;
CC Q9Y2I9-2; Q96ED9-2: HOOK2; NbExp=3; IntAct=EBI-17455779, EBI-10961706;
CC Q9Y2I9-2; O75031: HSF2BP; NbExp=3; IntAct=EBI-17455779, EBI-7116203;
CC Q9Y2I9-2; Q92764: KRT35; NbExp=3; IntAct=EBI-17455779, EBI-1058674;
CC Q9Y2I9-2; Q9UBB9: TFIP11; NbExp=3; IntAct=EBI-17455779, EBI-1105213;
CC Q9Y2I9-2; Q9UGI0: ZRANB1; NbExp=3; IntAct=EBI-17455779, EBI-527853;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19077034};
CC Peripheral membrane protein {ECO:0000269|PubMed:19077034}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9Y2I9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y2I9-2; Sequence=VSP_042427;
CC Name=3;
CC IsoId=Q9Y2I9-3; Sequence=VSP_042427, VSP_042428;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA76828.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AB449914; BAH16657.1; -; mRNA.
DR EMBL; AK055404; BAG51513.1; -; mRNA.
DR EMBL; AC025262; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC078815; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AB023201; BAA76828.1; ALT_INIT; mRNA.
DR CCDS; CCDS53813.1; -. [Q9Y2I9-2]
DR RefSeq; NP_001317115.1; NM_001330186.1.
DR RefSeq; NP_001317116.1; NM_001330187.1.
DR RefSeq; NP_001317117.1; NM_001330188.1.
DR RefSeq; NP_056094.1; NM_015279.1. [Q9Y2I9-2]
DR AlphaFoldDB; Q9Y2I9; -.
DR SMR; Q9Y2I9; -.
DR BioGRID; 116917; 23.
DR IntAct; Q9Y2I9; 12.
DR STRING; 9606.ENSP00000440207; -.
DR iPTMnet; Q9Y2I9; -.
DR PhosphoSitePlus; Q9Y2I9; -.
DR BioMuta; TBC1D30; -.
DR DMDM; 172046608; -.
DR EPD; Q9Y2I9; -.
DR jPOST; Q9Y2I9; -.
DR MassIVE; Q9Y2I9; -.
DR MaxQB; Q9Y2I9; -.
DR PaxDb; Q9Y2I9; -.
DR PeptideAtlas; Q9Y2I9; -.
DR PRIDE; Q9Y2I9; -.
DR ProteomicsDB; 85806; -. [Q9Y2I9-1]
DR ProteomicsDB; 85807; -. [Q9Y2I9-2]
DR ProteomicsDB; 85808; -. [Q9Y2I9-3]
DR Antibodypedia; 51838; 14 antibodies from 6 providers.
DR DNASU; 23329; -.
DR Ensembl; ENST00000539867.6; ENSP00000440207.1; ENSG00000111490.15. [Q9Y2I9-2]
DR Ensembl; ENST00000542120.6; ENSP00000440640.2; ENSG00000111490.15. [Q9Y2I9-1]
DR GeneID; 23329; -.
DR KEGG; hsa:23329; -.
DR MANE-Select; ENST00000539867.6; ENSP00000440207.1; NM_015279.2; NP_056094.1. [Q9Y2I9-2]
DR UCSC; uc010sst.3; human. [Q9Y2I9-1]
DR CTD; 23329; -.
DR DisGeNET; 23329; -.
DR GeneCards; TBC1D30; -.
DR HGNC; HGNC:29164; TBC1D30.
DR HPA; ENSG00000111490; Tissue enhanced (brain, pancreas).
DR MIM; 615077; gene.
DR neXtProt; NX_Q9Y2I9; -.
DR OpenTargets; ENSG00000111490; -.
DR PharmGKB; PA162405327; -.
DR VEuPathDB; HostDB:ENSG00000111490; -.
DR eggNOG; KOG2058; Eukaryota.
DR GeneTree; ENSGT00940000159226; -.
DR InParanoid; Q9Y2I9; -.
DR OMA; KSHLGCG; -.
DR OrthoDB; 1162786at2759; -.
DR PhylomeDB; Q9Y2I9; -.
DR TreeFam; TF321898; -.
DR PathwayCommons; Q9Y2I9; -.
DR SignaLink; Q9Y2I9; -.
DR BioGRID-ORCS; 23329; 9 hits in 1069 CRISPR screens.
DR ChiTaRS; TBC1D30; human.
DR GenomeRNAi; 23329; -.
DR Pharos; Q9Y2I9; Tbio.
DR PRO; PR:Q9Y2I9; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q9Y2I9; protein.
DR Bgee; ENSG00000111490; Expressed in endothelial cell and 159 other tissues.
DR ExpressionAtlas; Q9Y2I9; baseline and differential.
DR GO; GO:0036064; C:ciliary basal body; IDA:UniProtKB.
DR GO; GO:0005929; C:cilium; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0005096; F:GTPase activator activity; IDA:UniProtKB.
DR GO; GO:0031267; F:small GTPase binding; IPI:UniProtKB.
DR GO; GO:0090630; P:activation of GTPase activity; IBA:GO_Central.
DR GO; GO:1902018; P:negative regulation of cilium assembly; IMP:UniProtKB.
DR GO; GO:0043547; P:positive regulation of GTPase activity; IDA:UniProtKB.
DR InterPro; IPR000195; Rab-GTPase-TBC_dom.
DR InterPro; IPR035969; Rab-GTPase_TBC_sf.
DR InterPro; IPR032738; Tbc1d30_C.
DR Pfam; PF15733; DUF4682; 1.
DR Pfam; PF00566; RabGAP-TBC; 1.
DR SMART; SM00164; TBC; 1.
DR SUPFAM; SSF47923; SSF47923; 2.
DR PROSITE; PS50086; TBC_RABGAP; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Membrane; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..924
FT /note="TBC1 domain family member 30"
FT /id="PRO_0000320652"
FT DOMAIN 249..457
FT /note="Rab-GAP TBC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00163"
FT REGION 1..76
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 94..134
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 541..564
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 776..806
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 838..924
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 47..61
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 99..118
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 780..798
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 856..873
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 901..924
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 800
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q69ZT9"
FT VAR_SEQ 1..215
FT /note="MDVLPTGGGRPGLRTELEFRGGGGEARLESQEEETIPAAPPAPRLRGAAERP
FT RRSRDTWDGDEDTEPGEACGGRTSRTASLVSGLLNELYSCTEEEEAAGGGRGAEGRRRR
FT RDSLDSSTEASGSDVVLGGRSGAGDSRVLQELQERPSQRHQMLYLRQKDANELKTILRE
FT LKYRIGIQSAKLLRHLKQKDRLLHKVQRNCDIVTACLQAVSQKRR -> MRQDKLTGSL
FT RRGGRCLKRQGGGVGTILSNVLKKRSCISRTAPRLLCTLEPG (in isoform 2
FT and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:19077034"
FT /id="VSP_042427"
FT VAR_SEQ 792..924
FT /note="TRRTIEGQSPEPVFGDADVDVSAVQAKLGALELNQRDAAAETELRVHPPCQR
FT HCPEPPSAPEENKATSKAPQGSNSKTPIFSPFPSVKPLRKSATARNLGLYGPTERTPTV
FT HFPQMSRSFSKPGGGNSGTKKR -> SSYKSLQMI (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042428"
FT VARIANT 296
FT /note="Q -> H (in dbSNP:rs11615287)"
FT /id="VAR_039261"
FT VARIANT 596
FT /note="N -> D (in dbSNP:rs2290527)"
FT /id="VAR_052544"
FT VARIANT 752
FT /note="V -> I (in dbSNP:rs939875)"
FT /evidence="ECO:0000269|PubMed:19077034"
FT /id="VAR_039262"
FT VARIANT 759
FT /note="N -> D (in dbSNP:rs2290527)"
FT /id="VAR_059857"
FT MUTAGEN 303
FT /note="R->K: Loss of GAP activity."
FT /evidence="ECO:0000269|PubMed:19077034"
FT CONFLICT 770
FT /note="A -> S (in Ref. 2; BAG51513)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 924 AA; 102743 MW; 36C626CD533F58A7 CRC64;
MDVLPTGGGR PGLRTELEFR GGGGEARLES QEEETIPAAP PAPRLRGAAE RPRRSRDTWD
GDEDTEPGEA CGGRTSRTAS LVSGLLNELY SCTEEEEAAG GGRGAEGRRR RRDSLDSSTE
ASGSDVVLGG RSGAGDSRVL QELQERPSQR HQMLYLRQKD ANELKTILRE LKYRIGIQSA
KLLRHLKQKD RLLHKVQRNC DIVTACLQAV SQKRRVDTKL KFTLEPSLGQ NGFQQWYDAL
KAVARLSTGI PKEWRRKVWL TLADHYLHSI AIDWDKTMRF TFNERSNPDD DSMGIQIVKD
LHRTGCSSYC GQEAEQDRVV LKRVLLAYAR WNKTVGYCQG FNILAALILE VMEGNEGDAL
KIMIYLIDKV LPESYFVNNL RALSVDMAVF RDLLRMKLPE LSQHLDTLQR TANKESGGGY
EPPLTNVFTM QWFLTLFATC LPNQTVLKIW DSVFFEGSEI ILRVSLAIWA KLGEQIECCE
TADEFYSTMG RLTQEMLEND LLQSHELMQT VYSMAPFPFP QLAELREKYT YNITPFPATV
KPTSVSGRHS KARDSDEEND PDDEDAVVNA VGCLGPFSGF LAPELQKYQK QIKEPNEEQS
LRSNNIAELS PGAINSCRSE YHAAFNSMMM ERMTTDINAL KRQYSRIKKK QQQQVHQVYI
RADKGPVTSI LPSQVNSSPV INHLLLGKKM KMTNRAAKNA VIHIPGHTGG KISPVPYEDL
KTKLNSPWRT HIRVHKKNMP RTKSHPGCGD TVGLIDEQNE ASKTNGLGAA EAFPSGCTAT
AGREGSSPEG STRRTIEGQS PEPVFGDADV DVSAVQAKLG ALELNQRDAA AETELRVHPP
CQRHCPEPPS APEENKATSK APQGSNSKTP IFSPFPSVKP LRKSATARNL GLYGPTERTP
TVHFPQMSRS FSKPGGGNSG TKKR
