TBC26_HUMAN
ID TBC26_HUMAN Reviewed; 250 AA.
AC Q86UD7; A8K929; Q4G172;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 3.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=TBC1 domain family member 26;
GN Name=TBC1D26;
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 [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
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 [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 MRNA] (ISOFORMS 1 AND 3), AND VARIANTS
RP VAL-206 AND SER-234.
RC TISSUE=Testis;
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). {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q86UD7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86UD7-2; Sequence=VSP_033827, VSP_033828;
CC Name=3;
CC IsoId=Q86UD7-3; Sequence=VSP_033825, VSP_033826;
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DR EMBL; AK292544; BAF85233.1; -; mRNA.
DR EMBL; AK315847; BAF98738.1; -; mRNA.
DR EMBL; AC005324; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC028414; AAH28414.1; -; mRNA.
DR EMBL; BC047400; AAH47400.1; -; mRNA.
DR CCDS; CCDS42265.1; -. [Q86UD7-1]
DR RefSeq; NP_848666.2; NM_178571.4.
DR AlphaFoldDB; Q86UD7; -.
DR SMR; Q86UD7; -.
DR BioGRID; 131653; 12.
DR STRING; 9606.ENSP00000410111; -.
DR iPTMnet; Q86UD7; -.
DR PhosphoSitePlus; Q86UD7; -.
DR BioMuta; TBC1D26; -.
DR DMDM; 313104281; -.
DR PaxDb; Q86UD7; -.
DR PeptideAtlas; Q86UD7; -.
DR PRIDE; Q86UD7; -.
DR Antibodypedia; 54449; 79 antibodies from 14 providers.
DR DNASU; 353149; -.
DR Ensembl; ENST00000469477.3; ENSP00000434391.1; ENSG00000214946.15. [Q86UD7-1]
DR GeneID; 353149; -.
DR KEGG; hsa:353149; -.
DR UCSC; uc010cou.2; human. [Q86UD7-1]
DR CTD; 353149; -.
DR GeneCards; TBC1D26; -.
DR HGNC; HGNC:28745; TBC1D26.
DR HPA; ENSG00000214946; Tissue enriched (testis).
DR neXtProt; NX_Q86UD7; -.
DR PharmGKB; PA162405218; -.
DR VEuPathDB; HostDB:ENSG00000214946; -.
DR eggNOG; KOG1102; Eukaryota.
DR GeneTree; ENSGT00940000162039; -.
DR HOGENOM; CLU_005350_9_0_1; -.
DR InParanoid; Q86UD7; -.
DR OMA; HTRSRCC; -.
DR OrthoDB; 976276at2759; -.
DR PhylomeDB; Q86UD7; -.
DR PathwayCommons; Q86UD7; -.
DR BioGRID-ORCS; 353149; 9 hits in 984 CRISPR screens.
DR GenomeRNAi; 353149; -.
DR Pharos; Q86UD7; Tdark.
DR PRO; PR:Q86UD7; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q86UD7; protein.
DR Bgee; ENSG00000214946; Expressed in right testis and 86 other tissues.
DR ExpressionAtlas; Q86UD7; baseline and differential.
DR Genevisible; Q86UD7; HS.
DR GO; GO:0005096; F:GTPase activator activity; IBA:GO_Central.
DR GO; GO:0090630; P:activation of GTPase activity; IBA:GO_Central.
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; 1.
DR PROSITE; PS50086; TBC_RABGAP; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; GTPase activation; Reference proteome.
FT CHAIN 1..250
FT /note="TBC1 domain family member 26"
FT /id="PRO_0000337019"
FT DOMAIN 101..250
FT /note="Rab-GAP TBC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00163"
FT VAR_SEQ 67..86
FT /note="QRRKESKRTNKWQKMLADWT -> VRACACCVGGCFRDWESGGR (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033825"
FT VAR_SEQ 87..250
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033826"
FT VAR_SEQ 183..210
FT /note="EVGYHRDLSRITAILLLCLPEEDAFWAL -> VSIPGQRYSWDMCPYSQAWV
FT SLGGVATS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033827"
FT VAR_SEQ 211..250
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033828"
FT VARIANT 206
FT /note="A -> V (in dbSNP:rs11650318)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_043563"
FT VARIANT 234
FT /note="G -> S (in dbSNP:rs17855672)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_047676"
FT CONFLICT 59
FT /note="H -> R (in Ref. 1; BAF85233/BAF98738 and 3;
FT AAH28414/AAH47400)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 250 AA; 28839 MW; 8E26455DD725AD32 CRC64;
MEMDGDPYNL PAQGQGNIII TKYEQGHRAG AAVDLGHEQV DVRKYTNNLG IVHEMELPHV
SALEVKQRRK ESKRTNKWQK MLADWTKYRS TKKLSQRVYK VIPLAVRGRA WSLLLDIDRI
KSQNPGKYKV MKEKGKRSSR IIHCIQLDVS HTLQKHMMFI QRFGVKQQEL CDILVAYSAY
NPEVGYHRDL SRITAILLLC LPEEDAFWAL TQLLAGERHS LWYSTAQILP GSRGSYRTRS
RCCTSPSQRS
