TBCC1_HUMAN
ID TBCC1_HUMAN Reviewed; 557 AA.
AC Q9NVR7; B3KW69; D3DNU6; G5E9J4;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=TBCC domain-containing protein 1;
GN Name=TBCCD1;
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] (ISOFORMS 1 AND 2).
RC TISSUE=Teratocarcinoma, and Uterus;
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=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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).
RN [5]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=20168327; DOI=10.1038/embor.2010.5;
RA Goncalves J., Nolasco S., Nascimento R., Lopez Fanarraga M., Zabala J.C.,
RA Soares H.;
RT "TBCCD1, a new centrosomal protein, is required for centrosome and Golgi
RT apparatus positioning.";
RL EMBO Rep. 11:194-200(2010).
CC -!- FUNCTION: Plays a role in the regulation of centrosome and Golgi
CC apparatus positioning, with consequences on cell shape and cell
CC migration. {ECO:0000269|PubMed:20168327}.
CC -!- INTERACTION:
CC Q9NVR7; Q8IV03: LURAP1L; NbExp=3; IntAct=EBI-7818932, EBI-12898559;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC center, centrosome {ECO:0000269|PubMed:20168327}. Cytoplasm,
CC cytoskeleton, spindle pole {ECO:0000269|PubMed:20168327}.
CC Note=Localizes at the spindle midzone, midbody and basal bodies of
CC primary and motile cilia.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NVR7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NVR7-2; Sequence=VSP_054000, VSP_054001;
CC -!- SIMILARITY: Belongs to the TBCC family. {ECO:0000305}.
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DR EMBL; AK001422; BAA91682.1; -; mRNA.
DR EMBL; AK124362; BAG54031.1; -; mRNA.
DR EMBL; AC068631; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471052; EAW78191.1; -; Genomic_DNA.
DR EMBL; CH471052; EAW78192.1; -; Genomic_DNA.
DR EMBL; CH471052; EAW78193.1; -; Genomic_DNA.
DR EMBL; BC025748; AAH25748.1; -; mRNA.
DR CCDS; CCDS3276.1; -. [Q9NVR7-1]
DR CCDS; CCDS75061.1; -. [Q9NVR7-2]
DR RefSeq; NP_001127887.1; NM_001134415.1. [Q9NVR7-1]
DR RefSeq; NP_001273678.1; NM_001286749.1. [Q9NVR7-2]
DR RefSeq; NP_060608.1; NM_018138.4. [Q9NVR7-1]
DR AlphaFoldDB; Q9NVR7; -.
DR SMR; Q9NVR7; -.
DR BioGRID; 120470; 24.
DR IntAct; Q9NVR7; 15.
DR MINT; Q9NVR7; -.
DR STRING; 9606.ENSP00000411253; -.
DR iPTMnet; Q9NVR7; -.
DR PhosphoSitePlus; Q9NVR7; -.
DR BioMuta; TBCCD1; -.
DR DMDM; 74734544; -.
DR EPD; Q9NVR7; -.
DR jPOST; Q9NVR7; -.
DR MassIVE; Q9NVR7; -.
DR MaxQB; Q9NVR7; -.
DR PaxDb; Q9NVR7; -.
DR PeptideAtlas; Q9NVR7; -.
DR PRIDE; Q9NVR7; -.
DR ProteomicsDB; 33956; -.
DR ProteomicsDB; 82851; -. [Q9NVR7-1]
DR Antibodypedia; 46838; 76 antibodies from 15 providers.
DR DNASU; 55171; -.
DR Ensembl; ENST00000338733.10; ENSP00000341652.5; ENSG00000113838.13. [Q9NVR7-1]
DR Ensembl; ENST00000424280.5; ENSP00000411253.1; ENSG00000113838.13. [Q9NVR7-1]
DR Ensembl; ENST00000446782.5; ENSP00000397091.1; ENSG00000113838.13. [Q9NVR7-2]
DR GeneID; 55171; -.
DR KEGG; hsa:55171; -.
DR MANE-Select; ENST00000338733.10; ENSP00000341652.5; NM_018138.5; NP_060608.1.
DR UCSC; uc003fqg.5; human. [Q9NVR7-1]
DR CTD; 55171; -.
DR DisGeNET; 55171; -.
DR GeneCards; TBCCD1; -.
DR HGNC; HGNC:25546; TBCCD1.
DR HPA; ENSG00000113838; Low tissue specificity.
DR MIM; 619848; gene.
DR neXtProt; NX_Q9NVR7; -.
DR OpenTargets; ENSG00000113838; -.
DR PharmGKB; PA143485628; -.
DR VEuPathDB; HostDB:ENSG00000113838; -.
DR eggNOG; KOG4416; Eukaryota.
DR GeneTree; ENSGT00470000042284; -.
DR HOGENOM; CLU_016712_1_1_1; -.
DR InParanoid; Q9NVR7; -.
DR OMA; SMHYLRK; -.
DR OrthoDB; 433967at2759; -.
DR PhylomeDB; Q9NVR7; -.
DR TreeFam; TF329418; -.
DR PathwayCommons; Q9NVR7; -.
DR SignaLink; Q9NVR7; -.
DR BioGRID-ORCS; 55171; 13 hits in 1079 CRISPR screens.
DR GenomeRNAi; 55171; -.
DR Pharos; Q9NVR7; Tbio.
DR PRO; PR:Q9NVR7; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q9NVR7; protein.
DR Bgee; ENSG00000113838; Expressed in endometrium and 99 other tissues.
DR ExpressionAtlas; Q9NVR7; baseline and differential.
DR Genevisible; Q9NVR7; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0031616; C:spindle pole centrosome; IDA:UniProtKB.
DR GO; GO:0051661; P:maintenance of centrosome location; IMP:UniProtKB.
DR GO; GO:0051684; P:maintenance of Golgi location; IMP:UniProtKB.
DR GO; GO:0030334; P:regulation of cell migration; IMP:UniProtKB.
DR GO; GO:0008360; P:regulation of cell shape; IMP:UniProtKB.
DR Gene3D; 2.160.20.70; -; 1.
DR InterPro; IPR017901; C-CAP_CF_C-like.
DR InterPro; IPR016098; CAP/MinC_C.
DR InterPro; IPR036223; CAP_C_sf.
DR InterPro; IPR006599; CARP_motif.
DR InterPro; IPR039589; TBCC1.
DR InterPro; IPR012945; Tubulin-bd_cofactor_C_dom.
DR PANTHER; PTHR16052; PTHR16052; 1.
DR Pfam; PF07986; TBCC; 1.
DR SMART; SM00673; CARP; 2.
DR SUPFAM; SSF69340; SSF69340; 1.
DR PROSITE; PS51329; C_CAP_COFACTOR_C; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Cytoskeleton; Reference proteome.
FT CHAIN 1..557
FT /note="TBCC domain-containing protein 1"
FT /id="PRO_0000304944"
FT DOMAIN 290..435
FT /note="C-CAP/cofactor C-like"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00659"
FT VAR_SEQ 1..16
FT /note="MDQSRVLLWVKAEPFI -> MTDRLKFGFGFHRFLV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054000"
FT VAR_SEQ 17..112
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054001"
FT VARIANT 149
FT /note="K -> R (in dbSNP:rs7619912)"
FT /id="VAR_035123"
FT CONFLICT 116
FT /note="D -> G (in Ref. 1; BAG54031)"
FT /evidence="ECO:0000305"
FT CONFLICT 455
FT /note="T -> A (in Ref. 1; BAG54031)"
FT /evidence="ECO:0000305"
FT CONFLICT 526
FT /note="E -> D (in Ref. 1; BAG54031)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 557 AA; 63530 MW; 8485765F466DCC95 CRC64;
MDQSRVLLWV KAEPFIVGAL QVPPPSKFSL HYLRKISTYV QIRATEGAYP RLYWSTWRHI
ACGKLQLAKD LAWLYFEIFD SLSMKTPEER LEWSEVLSNC MSEEEVEKQR NQLSVDTLQF
LLFLYIQQLN KVSLRTSLIG EEWPSPRNKS QSPDLTEKSN CHNKNWNDYS HQAFVYDHLS
DLLELLLDPK QLTASFHSTH SSLVSREAVV ALSFLIEGTI SRARKIYPLH ELALWQPLHA
DSGFSKISKT FSFYKLETWL RSCLTGNPFG TSACLKSGKK LAWAHQVEGT TKRAKIACNT
HVAPRMHRLV VMSQVYKQTL AKSSDTLAGA HVKIHRCNES FIYLLSPLRS VTIEKCRNSI
FVLGPVGTTL HLHSCDNVKV IAVCHRLSIS STTGCIFHVL TPTRPLILSG NQTVTFAPFH
THYPMLEDHM ARTGLATVPN YWDNPMVVCR ENSDTRVFQL LPPCEFYVFI IPFEMEGDTT
EIPGGLPSVY QKALGQREQK IQIWQKTVKE AHLTKDQRKQ FQVLVENKFY EWLINTGHRQ
QLDSLVPPAA GSKQAAG
