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Q9NVR7

- TBCC1_HUMAN

UniProt

Q9NVR7 - TBCC1_HUMAN

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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

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
Complete GO annotation...

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

GO - Cellular componenti

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

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.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Belongs to the TBCC family.

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

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. VSP_054000Add
BLAST
Alternative sequencei17 – 11296Missing in isoform 2. VSP_054001Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti116 – 1161D → G in BAG54031. 1 Publication
Sequence conflicti455 – 4551T → A in BAG54031. 1 Publication
Sequence conflicti526 – 5261E → D in BAG54031. 1 Publication

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.
ENST00000424280; ENSP00000411253; ENSG00000113838.
ENST00000446782; ENSP00000397091; ENSG00000113838.
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 .
ENST00000424280 ; ENSP00000411253 ; ENSG00000113838 .
ENST00000446782 ; ENSP00000397091 ; ENSG00000113838 .
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 102 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

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