TBC20_MOUSE
ID TBC20_MOUSE Reviewed; 402 AA.
AC Q9D9I4; Q3TYW9; Q99LW2;
DT 29-AUG-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=TBC1 domain family member 20;
GN Name=Tbc1d20;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Embryo, Inner ear, and Testis;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=Czech II; TISSUE=Mammary tumor;
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 [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [4]
RP VARIANT BS 231-PHE--VAL-235 MET DELINS.
RX PubMed=24239381; DOI=10.1016/j.ajhg.2013.10.011;
RA Liegel R.P., Handley M.T., Ronchetti A., Brown S., Langemeyer L.,
RA Linford A., Chang B., Morris-Rosendahl D.J., Carpanini S., Posmyk R.,
RA Harthill V., Sheridan E., Abdel-Salam G.M., Terhal P.A., Faravelli F.,
RA Accorsi P., Giordano L., Pinelli L., Hartmann B., Ebert A.D., Barr F.A.,
RA Aligianis I.A., Sidjanin D.J.;
RT "Loss-of-function mutations in TBC1D20 cause cataracts and male infertility
RT in blind sterile mice and Warburg micro syndrome in humans.";
RL Am. J. Hum. Genet. 93:1001-1014(2013).
CC -!- FUNCTION: GTPase-activating protein specific for Rab1 and Rab2 small
CC GTPase families for which it can accelerate the intrinsic GTP
CC hydrolysis rate by more than five orders of magnitude. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
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|UniProtKB:Q96BZ9}.
CC -!- DISEASE: Note=Defects in Tbc1d20 are the cause of spontaneous autosomal
CC recessive blind sterile (bs) phenotype. Bs animals exhibit embryonic
CC non-progressive nuclear cataracts and spermatid abnormalities
CC associated with male infertility.
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; AK006877; BAB24777.1; -; mRNA.
DR EMBL; AK076124; BAC36202.1; -; mRNA.
DR EMBL; AK158274; BAE34442.1; -; mRNA.
DR EMBL; BC002196; AAH02196.1; -; mRNA.
DR EMBL; BC040089; AAH40089.1; -; mRNA.
DR CCDS; CCDS16880.1; -.
DR RefSeq; NP_077158.1; NM_024196.3.
DR AlphaFoldDB; Q9D9I4; -.
DR SMR; Q9D9I4; -.
DR STRING; 10090.ENSMUSP00000028963; -.
DR iPTMnet; Q9D9I4; -.
DR PhosphoSitePlus; Q9D9I4; -.
DR MaxQB; Q9D9I4; -.
DR PaxDb; Q9D9I4; -.
DR PRIDE; Q9D9I4; -.
DR ProteomicsDB; 263074; -.
DR Antibodypedia; 22961; 109 antibodies from 20 providers.
DR DNASU; 67231; -.
DR Ensembl; ENSMUST00000028963; ENSMUSP00000028963; ENSMUSG00000027465.
DR GeneID; 67231; -.
DR KEGG; mmu:67231; -.
DR UCSC; uc008nfb.1; mouse.
DR CTD; 128637; -.
DR MGI; MGI:1914481; Tbc1d20.
DR VEuPathDB; HostDB:ENSMUSG00000027465; -.
DR eggNOG; KOG2595; Eukaryota.
DR GeneTree; ENSGT00390000014944; -.
DR HOGENOM; CLU_039465_1_0_1; -.
DR InParanoid; Q9D9I4; -.
DR OMA; YPMLCYF; -.
DR OrthoDB; 1107565at2759; -.
DR PhylomeDB; Q9D9I4; -.
DR TreeFam; TF105942; -.
DR Reactome; R-MMU-204005; COPII-mediated vesicle transport.
DR BioGRID-ORCS; 67231; 10 hits in 73 CRISPR screens.
DR PRO; PR:Q9D9I4; -.
DR Proteomes; UP000000589; Chromosome 2.
DR RNAct; Q9D9I4; protein.
DR Bgee; ENSMUSG00000027465; Expressed in brown adipose tissue and 257 other tissues.
DR ExpressionAtlas; Q9D9I4; baseline and differential.
DR Genevisible; Q9D9I4; MM.
DR GO; GO:0005783; C:endoplasmic reticulum; ISO:MGI.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; ISO:MGI.
DR GO; GO:0030173; C:integral component of Golgi membrane; ISO:MGI.
DR GO; GO:0031965; C:nuclear membrane; ISO:MGI.
DR GO; GO:0005096; F:GTPase activator activity; ISO:MGI.
DR GO; GO:0031267; F:small GTPase binding; ISO:MGI.
DR GO; GO:0001675; P:acrosome assembly; IMP:MGI.
DR GO; GO:0043010; P:camera-type eye development; IMP:MGI.
DR GO; GO:0090110; P:COPII-coated vesicle cargo loading; ISO:MGI.
DR GO; GO:0006888; P:endoplasmic reticulum to Golgi vesicle-mediated transport; ISO:MGI.
DR GO; GO:0007030; P:Golgi organization; IMP:MGI.
DR GO; GO:0002088; P:lens development in camera-type eye; IMP:MGI.
DR GO; GO:0070309; P:lens fiber cell morphogenesis; IMP:MGI.
DR GO; GO:0034389; P:lipid droplet organization; IMP:MGI.
DR GO; GO:0008584; P:male gonad development; IMP:MGI.
DR GO; GO:0044829; P:positive regulation by host of viral genome replication; ISO:MGI.
DR GO; GO:0046726; P:positive regulation by virus of viral protein levels in host cell; ISO:MGI.
DR GO; GO:1902953; P:positive regulation of ER to Golgi vesicle-mediated transport; ISO:MGI.
DR GO; GO:0043547; P:positive regulation of GTPase activity; ISO:MGI.
DR GO; GO:0072520; P:seminiferous tubule development; IMP:MGI.
DR GO; GO:0007283; P:spermatogenesis; IMP:MGI.
DR GO; GO:0019068; P:virion assembly; ISO:MGI.
DR InterPro; IPR000195; Rab-GTPase-TBC_dom.
DR InterPro; IPR035969; Rab-GTPase_TBC_sf.
DR InterPro; IPR045913; TBC20/Gyp8-like.
DR PANTHER; PTHR20913; PTHR20913; 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 Disease variant; GTPase activation; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..402
FT /note="TBC1 domain family member 20"
FT /id="PRO_0000208049"
FT TRANSMEM 237..257
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 366..386
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 59..245
FT /note="Rab-GAP TBC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00163"
FT REGION 1..27
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 10..27
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT SITE 104
FT /note="Arginine finger"
FT /evidence="ECO:0000250|UniProtKB:Q96BZ9"
FT SITE 143
FT /note="Glutamine finger"
FT /evidence="ECO:0000250|UniProtKB:Q96BZ9"
FT VARIANT 231..235
FT /note="FRHVV -> M (in bs)"
FT CONFLICT 297
FT /note="L -> P (in Ref. 2; AAH40089)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 402 AA; 45825 MW; 56660A95A95B3A44 CRC64;
MALRPSKGDG SAGRWDRGAG KADFNAKRKK KVAEIHQALN SDPIDLAALR RMAISEGGLL
TDEIRCQVWP KLLNVNTSEP PPVSRKDLRD MSKDYQQVLL DVRRSLRRFP PGMPDEQREG
LQEELIDIIL LVLDRNPQLH YYQGYHDIVV TFLLVVGERL ATSLVEKLST HHLRDFMDPT
MDNTKHILNY LMPIIDQVSP ELHDFMQSAE VGTIFALSWL ITWFGHVLMD FRHVVRLYDF
FLACHPLMPI YFAAVIVLYR EQEVLDCDCD MASVHHLLSQ IPQDLPYETL ISRAGDLFVQ
FPPSELAREA AAQQEAERTA ASTFKDFELA STQQRPDMVL RQRFRGLLRP EARTKDVLTK
PRTNRFVKLA VMGLTVALGA AALAVVKSAL EWAPKFQLQL FP
