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Q9NVR7

- TBCC1_HUMAN

UniProt

Q9NVR7 - TBCC1_HUMAN

Protein

TBCC domain-containing protein 1

Gene

TBCCD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Plays a role in the regulation of centrosome and Golgi apparatus positioning, with consequences on cell shape and cell migration.1 Publication

    GO - Biological processi

    1. cell morphogenesis Source: InterPro
    2. cytoskeleton organization Source: InterPro
    3. maintenance of centrosome location Source: UniProtKB
    4. maintenance of Golgi location Source: UniProtKB
    5. regulation of cell migration Source: UniProtKB
    6. regulation of cell shape Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    TBCC domain-containing protein 1
    Gene namesi
    Name:TBCCD1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:25546. TBCCD1.

    Subcellular locationi

    Cytoplasmcytoskeletonmicrotubule organizing centercentrosome 1 Publication. Cytoplasmcytoskeletonspindle pole 1 Publication
    Note: Localizes at the spindle midzone, midbody and basal bodies of primary and motile cilia.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-KW
    2. spindle pole centrosome Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA143485628.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 557557TBCC domain-containing protein 1PRO_0000304944Add
    BLAST

    Proteomic databases

    MaxQBiQ9NVR7.
    PaxDbiQ9NVR7.
    PRIDEiQ9NVR7.

    PTM databases

    PhosphoSiteiQ9NVR7.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NVR7.
    BgeeiQ9NVR7.
    CleanExiHS_TBCCD1.
    GenevestigatoriQ9NVR7.

    Interactioni

    Protein-protein interaction databases

    BioGridi120470. 1 interaction.
    IntActiQ9NVR7. 2 interactions.
    MINTiMINT-7716720.
    STRINGi9606.ENSP00000341652.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NVR7.
    SMRiQ9NVR7. Positions 311-444.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini290 – 435146C-CAP/cofactor C-likePROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the TBCC family.Curated
    Contains 1 C-CAP/cofactor C-like domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG274981.
    HOGENOMiHOG000008162.
    HOVERGENiHBG108549.
    InParanoidiQ9NVR7.
    KOiK16810.
    OMAiEWPSPRN.
    OrthoDBiEOG71P29F.
    PhylomeDBiQ9NVR7.
    TreeFamiTF329418.

    Family and domain databases

    Gene3Di2.160.20.70. 1 hit.
    InterProiIPR013912. Adenylate_cyclase-assoc_CAP_C.
    IPR017901. C-CAP_CF_C-like.
    IPR016098. CAP/MinC_C.
    IPR006599. CARP_motif.
    IPR012945. Tubulin-bd_cofactor_C_dom.
    [Graphical view]
    PfamiPF07986. TBCC. 1 hit.
    [Graphical view]
    SMARTiSM00673. CARP. 2 hits.
    [Graphical view]
    SUPFAMiSSF69340. SSF69340. 1 hit.
    PROSITEiPS51329. C_CAP_COFACTOR_C. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NVR7-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MDQSRVLLWV KAEPFIVGAL QVPPPSKFSL HYLRKISTYV QIRATEGAYP    50
    RLYWSTWRHI ACGKLQLAKD LAWLYFEIFD SLSMKTPEER LEWSEVLSNC 100
    MSEEEVEKQR NQLSVDTLQF LLFLYIQQLN KVSLRTSLIG EEWPSPRNKS 150
    QSPDLTEKSN CHNKNWNDYS HQAFVYDHLS DLLELLLDPK QLTASFHSTH 200
    SSLVSREAVV ALSFLIEGTI SRARKIYPLH ELALWQPLHA DSGFSKISKT 250
    FSFYKLETWL RSCLTGNPFG TSACLKSGKK LAWAHQVEGT TKRAKIACNT 300
    HVAPRMHRLV VMSQVYKQTL AKSSDTLAGA HVKIHRCNES FIYLLSPLRS 350
    VTIEKCRNSI FVLGPVGTTL HLHSCDNVKV IAVCHRLSIS STTGCIFHVL 400
    TPTRPLILSG NQTVTFAPFH THYPMLEDHM ARTGLATVPN YWDNPMVVCR 450
    ENSDTRVFQL LPPCEFYVFI IPFEMEGDTT EIPGGLPSVY QKALGQREQK 500
    IQIWQKTVKE AHLTKDQRKQ FQVLVENKFY EWLINTGHRQ QLDSLVPPAA 550
    GSKQAAG 557
    Length:557
    Mass (Da):63,530
    Last modified:October 1, 2000 - v1
    Checksum:i8485765F466DCC95
    GO
    Isoform 2 (identifier: Q9NVR7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-16: MDQSRVLLWVKAEPFI → MTDRLKFGFGFHRFLV
         17-112: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:461
    Mass (Da):52,263
    Checksum:iBB893F7C94E52485
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti116 – 1161D → G in BAG54031. (PubMed:14702039)Curated
    Sequence conflicti455 – 4551T → A in BAG54031. (PubMed:14702039)Curated
    Sequence conflicti526 – 5261E → D in BAG54031. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti149 – 1491K → R.
    Corresponds to variant rs7619912 [ dbSNP | Ensembl ].
    VAR_035123

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1616MDQSR…AEPFI → MTDRLKFGFGFHRFLV in isoform 2. 1 PublicationVSP_054000Add
    BLAST
    Alternative sequencei17 – 11296Missing in isoform 2. 1 PublicationVSP_054001Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK001422 mRNA. Translation: BAA91682.1.
    AK124362 mRNA. Translation: BAG54031.1.
    AC068631 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW78191.1.
    CH471052 Genomic DNA. Translation: EAW78192.1.
    CH471052 Genomic DNA. Translation: EAW78193.1.
    BC025748 mRNA. Translation: AAH25748.1.
    CCDSiCCDS3276.1. [Q9NVR7-1]
    RefSeqiNP_001127887.1. NM_001134415.1. [Q9NVR7-1]
    NP_001273678.1. NM_001286749.1. [Q9NVR7-2]
    NP_060608.1. NM_018138.4. [Q9NVR7-1]
    UniGeneiHs.518469.

    Genome annotation databases

    EnsembliENST00000338733; ENSP00000341652; ENSG00000113838. [Q9NVR7-1]
    ENST00000424280; ENSP00000411253; ENSG00000113838. [Q9NVR7-1]
    ENST00000446782; ENSP00000397091; ENSG00000113838. [Q9NVR7-2]
    GeneIDi55171.
    KEGGihsa:55171.
    UCSCiuc003fqg.3. human. [Q9NVR7-1]
    uc003fqh.3. human.

    Polymorphism databases

    DMDMi74734544.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK001422 mRNA. Translation: BAA91682.1 .
    AK124362 mRNA. Translation: BAG54031.1 .
    AC068631 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW78191.1 .
    CH471052 Genomic DNA. Translation: EAW78192.1 .
    CH471052 Genomic DNA. Translation: EAW78193.1 .
    BC025748 mRNA. Translation: AAH25748.1 .
    CCDSi CCDS3276.1. [Q9NVR7-1 ]
    RefSeqi NP_001127887.1. NM_001134415.1. [Q9NVR7-1 ]
    NP_001273678.1. NM_001286749.1. [Q9NVR7-2 ]
    NP_060608.1. NM_018138.4. [Q9NVR7-1 ]
    UniGenei Hs.518469.

    3D structure databases

    ProteinModelPortali Q9NVR7.
    SMRi Q9NVR7. Positions 311-444.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120470. 1 interaction.
    IntActi Q9NVR7. 2 interactions.
    MINTi MINT-7716720.
    STRINGi 9606.ENSP00000341652.

    PTM databases

    PhosphoSitei Q9NVR7.

    Polymorphism databases

    DMDMi 74734544.

    Proteomic databases

    MaxQBi Q9NVR7.
    PaxDbi Q9NVR7.
    PRIDEi Q9NVR7.

    Protocols and materials databases

    DNASUi 55171.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000338733 ; ENSP00000341652 ; ENSG00000113838 . [Q9NVR7-1 ]
    ENST00000424280 ; ENSP00000411253 ; ENSG00000113838 . [Q9NVR7-1 ]
    ENST00000446782 ; ENSP00000397091 ; ENSG00000113838 . [Q9NVR7-2 ]
    GeneIDi 55171.
    KEGGi hsa:55171.
    UCSCi uc003fqg.3. human. [Q9NVR7-1 ]
    uc003fqh.3. human.

    Organism-specific databases

    CTDi 55171.
    GeneCardsi GC03M186263.
    HGNCi HGNC:25546. TBCCD1.
    neXtProti NX_Q9NVR7.
    PharmGKBi PA143485628.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG274981.
    HOGENOMi HOG000008162.
    HOVERGENi HBG108549.
    InParanoidi Q9NVR7.
    KOi K16810.
    OMAi EWPSPRN.
    OrthoDBi EOG71P29F.
    PhylomeDBi Q9NVR7.
    TreeFami TF329418.

    Miscellaneous databases

    GenomeRNAii 55171.
    NextBioi 35470384.
    PROi Q9NVR7.

    Gene expression databases

    ArrayExpressi Q9NVR7.
    Bgeei Q9NVR7.
    CleanExi HS_TBCCD1.
    Genevestigatori Q9NVR7.

    Family and domain databases

    Gene3Di 2.160.20.70. 1 hit.
    InterProi IPR013912. Adenylate_cyclase-assoc_CAP_C.
    IPR017901. C-CAP_CF_C-like.
    IPR016098. CAP/MinC_C.
    IPR006599. CARP_motif.
    IPR012945. Tubulin-bd_cofactor_C_dom.
    [Graphical view ]
    Pfami PF07986. TBCC. 1 hit.
    [Graphical view ]
    SMARTi SM00673. CARP. 2 hits.
    [Graphical view ]
    SUPFAMi SSF69340. SSF69340. 1 hit.
    PROSITEi PS51329. C_CAP_COFACTOR_C. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Teratocarcinoma and Uterus.
    2. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    5. "TBCCD1, a new centrosomal protein, is required for centrosome and Golgi apparatus positioning."
      Goncalves J., Nolasco S., Nascimento R., Lopez Fanarraga M., Zabala J.C., Soares H.
      EMBO Rep. 11:194-200(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiTBCC1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NVR7
    Secondary accession number(s): B3KW69, D3DNU6, G5E9J4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 2, 2007
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 103 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3