TBC19_HUMAN
ID TBC19_HUMAN Reviewed; 526 AA.
AC Q8N5T2; B9A6M0; Q9NUX1;
DT 15-FEB-2005, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=TBC1 domain family member 19;
GN Name=TBC1D19;
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).
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 1).
RC TISSUE=Placenta;
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT PHE-509.
RC TISSUE=Brain;
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 -!- INTERACTION:
CC Q8N5T2; P43365: MAGEA12; NbExp=3; IntAct=EBI-1221022, EBI-749530;
CC Q8N5T2; O95983-2: MBD3; NbExp=3; IntAct=EBI-1221022, EBI-11978579;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N5T2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N5T2-2; Sequence=VSP_053998;
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DR EMBL; AB449905; BAH16648.1; -; mRNA.
DR EMBL; AK001944; BAA91992.1; -; mRNA.
DR EMBL; AC093807; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC107390; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC031642; AAH31642.1; -; mRNA.
DR CCDS; CCDS3439.1; -. [Q8N5T2-1]
DR CCDS; CCDS75115.1; -. [Q8N5T2-2]
DR RefSeq; NP_001278983.1; NM_001292054.1. [Q8N5T2-2]
DR RefSeq; NP_060787.2; NM_018317.3. [Q8N5T2-1]
DR AlphaFoldDB; Q8N5T2; -.
DR SMR; Q8N5T2; -.
DR BioGRID; 120583; 15.
DR IntAct; Q8N5T2; 9.
DR MINT; Q8N5T2; -.
DR STRING; 9606.ENSP00000264866; -.
DR iPTMnet; Q8N5T2; -.
DR PhosphoSitePlus; Q8N5T2; -.
DR BioMuta; TBC1D19; -.
DR DMDM; 296452921; -.
DR MassIVE; Q8N5T2; -.
DR MaxQB; Q8N5T2; -.
DR PaxDb; Q8N5T2; -.
DR PeptideAtlas; Q8N5T2; -.
DR PRIDE; Q8N5T2; -.
DR ProteomicsDB; 72094; -. [Q8N5T2-1]
DR ProteomicsDB; 7517; -.
DR Antibodypedia; 23261; 61 antibodies from 17 providers.
DR DNASU; 55296; -.
DR Ensembl; ENST00000264866.9; ENSP00000264866.4; ENSG00000109680.11. [Q8N5T2-1]
DR Ensembl; ENST00000511789.5; ENSP00000425569.1; ENSG00000109680.11. [Q8N5T2-2]
DR GeneID; 55296; -.
DR KEGG; hsa:55296; -.
DR MANE-Select; ENST00000264866.9; ENSP00000264866.4; NM_018317.4; NP_060787.2.
DR UCSC; uc003gsf.5; human. [Q8N5T2-1]
DR CTD; 55296; -.
DR DisGeNET; 55296; -.
DR GeneCards; TBC1D19; -.
DR HGNC; HGNC:25624; TBC1D19.
DR HPA; ENSG00000109680; Low tissue specificity.
DR neXtProt; NX_Q8N5T2; -.
DR OpenTargets; ENSG00000109680; -.
DR PharmGKB; PA134980991; -.
DR VEuPathDB; HostDB:ENSG00000109680; -.
DR eggNOG; ENOG502QSFR; Eukaryota.
DR GeneTree; ENSGT00390000015965; -.
DR HOGENOM; CLU_037252_1_0_1; -.
DR InParanoid; Q8N5T2; -.
DR OMA; GQVIHAV; -.
DR OrthoDB; 1481068at2759; -.
DR PhylomeDB; Q8N5T2; -.
DR TreeFam; TF323848; -.
DR PathwayCommons; Q8N5T2; -.
DR SignaLink; Q8N5T2; -.
DR BioGRID-ORCS; 55296; 13 hits in 1076 CRISPR screens.
DR ChiTaRS; TBC1D19; human.
DR GenomeRNAi; 55296; -.
DR Pharos; Q8N5T2; Tdark.
DR PRO; PR:Q8N5T2; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q8N5T2; protein.
DR Bgee; ENSG00000109680; Expressed in sperm and 119 other tissues.
DR ExpressionAtlas; Q8N5T2; baseline and differential.
DR Genevisible; Q8N5T2; HS.
DR GO; GO:0005096; F:GTPase activator activity; IEA:UniProtKB-KW.
DR InterPro; IPR000195; Rab-GTPase-TBC_dom.
DR InterPro; IPR035969; Rab-GTPase_TBC_sf.
DR InterPro; IPR042507; TBC1D19.
DR PANTHER; PTHR16110; PTHR16110; 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; GTPase activation; Reference proteome.
FT CHAIN 1..526
FT /note="TBC1 domain family member 19"
FT /id="PRO_0000208047"
FT DOMAIN 251..472
FT /note="Rab-GAP TBC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00163"
FT VAR_SEQ 34..98
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:19077034"
FT /id="VSP_053998"
FT VARIANT 241
FT /note="S -> G (in dbSNP:rs16878555)"
FT /id="VAR_030602"
FT VARIANT 509
FT /note="S -> F (in dbSNP:rs17852970)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_030603"
FT CONFLICT 176
FT /note="L -> P (in Ref. 2; BAA91992)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 526 AA; 60208 MW; 882433FD2E080384 CRC64;
MLQEESDLSL IIAQIVQKLK GSNLYSQLER QAWASLQRPE IKLESLKEDI KEFFKISGWE
KKLQNAVYSE LSVFPLPSHP AAPPEHLKEP LVYMRKAQGS WEKRILKSLN SMCTELSIPL
ARKRPVGEQK ELLNKWNEMG TDEPDLSLFR PVYAPKDFLE VLINLRNPNY ENGDSLSFRT
HLGLIQVPLK VKDIPELKEC FVELGLNIGQ LGIDDSTQVP PELFENEHVR IGQKVLAEQD
SAAAQQYIRQ GSPTALRAEL WALILNISSQ PEDVLYYEQL KTNVIQHDLL VDSLIYKDVK
LTASNDDYYF VFEDYLYQVL LCFSRDTSVL SHFAFNSASP PKSYIRGKLG LEEYAVFYPP
NGVIPFHGFS MYVAPLCFLY HEPSKLYQIF REMYVRFFFR LHSISSHPSG IVSLCLLFET
LLQTYLPQLF YHLREIGAQP LRISFKWMVR AFSGYLATDQ LLLLWDRILG YNSLEILAVL
AAAVFAFRAV NLMEVTSLAA AEAVLADLST LKVMPLLQIF LFATVT
