TBCD9_HUMAN
ID TBCD9_HUMAN Reviewed; 1266 AA.
AC Q6ZT07; A6H8U8; D3DNZ1; O94958;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 29-MAY-2007, sequence version 2.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=TBC1 domain family member 9;
DE AltName: Full=TBC1 domain family member 9A;
GN Name=TBC1D9; Synonyms=KIAA0882, TBC1D9A;
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].
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].
RC TISSUE=Brain;
RX PubMed=10048485; DOI=10.1093/dnares/5.6.355;
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. XII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 5:355-364(1998).
RN [3]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 148-1266.
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).
CC -!- FUNCTION: May act as a GTPase-activating protein for Rab family
CC protein(s).
CC -!- DOMAIN: The arginine and glutamine fingers are critical for the GTPase-
CC activating mechanism, they pull out Rab's 'switch 2' glutamine and
CC insert in Rab's active site. {ECO:0000250}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA74905.2; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAC86789.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC86789.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};
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DR EMBL; AB449892; BAH16635.1; -; mRNA.
DR EMBL; AB020689; BAA74905.2; ALT_INIT; mRNA.
DR EMBL; CH471056; EAX05092.1; -; Genomic_DNA.
DR EMBL; CH471056; EAX05094.1; -; Genomic_DNA.
DR EMBL; BC146758; AAI46759.1; -; mRNA.
DR EMBL; AK127020; BAC86789.1; ALT_SEQ; mRNA.
DR CCDS; CCDS47136.1; -.
DR RefSeq; NP_055945.2; NM_015130.2.
DR AlphaFoldDB; Q6ZT07; -.
DR SMR; Q6ZT07; -.
DR BioGRID; 116771; 62.
DR IntAct; Q6ZT07; 19.
DR MINT; Q6ZT07; -.
DR STRING; 9606.ENSP00000411197; -.
DR iPTMnet; Q6ZT07; -.
DR PhosphoSitePlus; Q6ZT07; -.
DR BioMuta; TBC1D9; -.
DR DMDM; 148887054; -.
DR EPD; Q6ZT07; -.
DR jPOST; Q6ZT07; -.
DR MassIVE; Q6ZT07; -.
DR MaxQB; Q6ZT07; -.
DR PaxDb; Q6ZT07; -.
DR PeptideAtlas; Q6ZT07; -.
DR PRIDE; Q6ZT07; -.
DR ProteomicsDB; 68251; -.
DR Antibodypedia; 27252; 88 antibodies from 19 providers.
DR DNASU; 23158; -.
DR Ensembl; ENST00000442267.3; ENSP00000411197.2; ENSG00000109436.8.
DR GeneID; 23158; -.
DR KEGG; hsa:23158; -.
DR MANE-Select; ENST00000442267.3; ENSP00000411197.2; NM_015130.3; NP_055945.2.
DR UCSC; uc010ioj.4; human.
DR CTD; 23158; -.
DR DisGeNET; 23158; -.
DR GeneCards; TBC1D9; -.
DR HGNC; HGNC:21710; TBC1D9.
DR HPA; ENSG00000109436; Low tissue specificity.
DR MIM; 618035; gene.
DR neXtProt; NX_Q6ZT07; -.
DR OpenTargets; ENSG00000109436; -.
DR PharmGKB; PA128394607; -.
DR VEuPathDB; HostDB:ENSG00000109436; -.
DR eggNOG; KOG4347; Eukaryota.
DR GeneTree; ENSGT00940000157878; -.
DR HOGENOM; CLU_003535_0_1_1; -.
DR InParanoid; Q6ZT07; -.
DR OMA; SNATDRH; -.
DR OrthoDB; 450360at2759; -.
DR PhylomeDB; Q6ZT07; -.
DR TreeFam; TF313145; -.
DR PathwayCommons; Q6ZT07; -.
DR SignaLink; Q6ZT07; -.
DR BioGRID-ORCS; 23158; 9 hits in 1065 CRISPR screens.
DR ChiTaRS; TBC1D9; human.
DR GeneWiki; TBC1D9; -.
DR GenomeRNAi; 23158; -.
DR Pharos; Q6ZT07; Tbio.
DR PRO; PR:Q6ZT07; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q6ZT07; protein.
DR Bgee; ENSG00000109436; Expressed in mammary duct and 207 other tissues.
DR Genevisible; Q6ZT07; HS.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR GO; GO:0005096; F:GTPase activator activity; IBA:GO_Central.
DR GO; GO:0090630; P:activation of GTPase activity; IBA:GO_Central.
DR CDD; cd13351; PH-GRAM1_TCB1D9_TCB1D9B; 1.
DR CDD; cd13354; PH-GRAM2_TCB1D9_TCB1D9B; 1.
DR Gene3D; 2.30.29.30; -; 2.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR002048; EF_hand_dom.
DR InterPro; IPR004182; GRAM.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR000195; Rab-GTPase-TBC_dom.
DR InterPro; IPR035969; Rab-GTPase_TBC_sf.
DR InterPro; IPR036014; TCB1D9/TCB1D9B_PH-GRAM1.
DR InterPro; IPR036017; TCB1D9/TCB1D9B_PH-GRAM2.
DR Pfam; PF02893; GRAM; 2.
DR Pfam; PF00566; RabGAP-TBC; 1.
DR SMART; SM00568; GRAM; 2.
DR SMART; SM00164; TBC; 1.
DR SUPFAM; SSF47473; SSF47473; 1.
DR SUPFAM; SSF47923; SSF47923; 2.
DR PROSITE; PS50222; EF_HAND_2; 1.
DR PROSITE; PS50086; TBC_RABGAP; 1.
PE 2: Evidence at transcript level;
KW GTPase activation; Reference proteome; Repeat.
FT CHAIN 1..1266
FT /note="TBC1 domain family member 9"
FT /id="PRO_0000288499"
FT DOMAIN 146..213
FT /note="GRAM 1"
FT DOMAIN 293..361
FT /note="GRAM 2"
FT DOMAIN 515..702
FT /note="Rab-GAP TBC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00163"
FT DOMAIN 886..921
FT /note="EF-hand"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT REGION 415..456
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1075..1095
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1132..1164
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT SITE 562
FT /note="Arginine finger"
FT /evidence="ECO:0000250"
FT SITE 601
FT /note="Glutamine finger"
FT /evidence="ECO:0000250"
FT VARIANT 7
FT /note="E -> K (in dbSNP:rs13108827)"
FT /id="VAR_052539"
FT VARIANT 779
FT /note="E -> K (in dbSNP:rs13118702)"
FT /id="VAR_052540"
FT CONFLICT 1204
FT /note="S -> G (in Ref. 6; BAC86789)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1266 AA; 143229 MW; 4A300EE192685088 CRC64;
MWVNPEEVLL ANALWITERA NPYFILQRRK GHAGDGGGGG GLAGLLVGTL DVVLDSSARV
APYRILYQTP DSLVYWTIAC GGSRKEITEH WEWLEQNLLQ TLSIFENEND ITTFVRGKIQ
GIIAEYNKIN DVKEDDDTEK FKEAIVKFHR LFGMPEEEKL VNYYSCSYWK GKVPRQGWMY
LSINHLCFYS FLMGREAKLV IRWVDITQLE KNATLLLPDV IKVSTRSSEH FFSVFLNINE
TFKLMEQLAN IAMRQLLDNE GFEQDRSLPK LKRKSPKKVS ALKRDLDARA KSERYRALFR
LPKDEKLDGH TDCTLWTPFN KMHILGQMFV STNYICFTSK EENLCSLIIP LREVTIVEKA
DSSSVLPSPL SISTRNRMTF LFANLKDRDF LVQRISDFLQ QTTSKIYSDK EFAGSYNSSD
DEVYSRPSSL VSSSPQRSTS SDADGERQFN LNGNSVPTAT QTLMTMYRRR SPEEFNPKLA
KEFLKEQAWK IHFAEYGQGI CMYRTEKTRE LVLKGIPESM RGELWLLLSG AINEKATHPG
YYEDLVEKSM GKYNLATEEI ERDLHRSLPE HPAFQNEMGI AALRRVLTAY AFRNPNIGYC
QAMNIVTSVL LLYAKEEEAF WLLVALCERM LPDYYNTRVV GALVDQGVFE ELARDYVPQL
YDCMQDLGVI STISLSWFLT LFLSVMPFES AVVVVDCFFY EGIKVIFQLA LAVLDANVDK
LLNCKDDGEA MTVLGRYLDS VTNKDSTLPP IPHLHSLLSD DVEPYPEVDI FRLIRTSYEK
FGTIRADLIE QMRFKQRLKV IQTLEDTTKR NVVRTIVTET SFTIDELEEL YALFKAEHLT
SCYWGGSSNA LDRHDPSLPY LEQYRIDFEQ FKGMFALLFP WACGTHSDVL ASRLFQLLDE
NGDSLINFRE FVSGLSAACH GDLTEKLKLL YKMHVLPEPS SDQDEPDSAF EATQYFFEDI
TPECTHVVGL DSRSKQGADD GFVTVSLKPD KGKRANSQEN RNYLRLWTPE NKSKSKNAKD
LPKLNQGQFI ELCKTMYNMF SEDPNEQELY HATAAVTSLL LEIGEVGKLF VAQPAKEGGS
GGSGPSCHQG IPGVLFPKKG PGQPYVVESV EPLPASLAPD SEEHSLGGQM EDIKLEDSSP
RDNGACSSML ISDDDTKDDS SMSSYSVLSA GSHEEDKLHC EDIGEDTVLV RSGQGTAALP
RSTSLDRDWA ITFEQFLASL LTEPALVKYF DKPVCMMARI TSAKNIRMMG KPLTSASDYE
ISAMSG
