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Protein

TBCC domain-containing protein 1

Gene

TBCCD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • cell morphogenesis Source: InterPro
  • cytoskeleton organization Source: InterPro
  • maintenance of centrosome location Source: UniProtKB
  • maintenance of Golgi location Source: UniProtKB
  • regulation of cell migration Source: UniProtKB
  • 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 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:25546. TBCCD1.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA143485628.

Polymorphism and mutation databases

BioMutaiTBCCD1.
DMDMi74734544.

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

BgeeiQ9NVR7.
CleanExiHS_TBCCD1.
ExpressionAtlasiQ9NVR7. baseline and differential.
GenevisibleiQ9NVR7. HS.

Interactioni

Protein-protein interaction databases

BioGridi120470. 15 interactions.
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.
GeneTreeiENSGT00470000042284.
HOGENOMiHOG000008162.
HOVERGENiHBG108549.
InParanoidiQ9NVR7.
KOiK16810.
OMAiRMVVMSQ.
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. AlignAdd to basket

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

        10         20         30         40         50
MDQSRVLLWV KAEPFIVGAL QVPPPSKFSL HYLRKISTYV QIRATEGAYP
60 70 80 90 100
RLYWSTWRHI ACGKLQLAKD LAWLYFEIFD SLSMKTPEER LEWSEVLSNC
110 120 130 140 150
MSEEEVEKQR NQLSVDTLQF LLFLYIQQLN KVSLRTSLIG EEWPSPRNKS
160 170 180 190 200
QSPDLTEKSN CHNKNWNDYS HQAFVYDHLS DLLELLLDPK QLTASFHSTH
210 220 230 240 250
SSLVSREAVV ALSFLIEGTI SRARKIYPLH ELALWQPLHA DSGFSKISKT
260 270 280 290 300
FSFYKLETWL RSCLTGNPFG TSACLKSGKK LAWAHQVEGT TKRAKIACNT
310 320 330 340 350
HVAPRMHRLV VMSQVYKQTL AKSSDTLAGA HVKIHRCNES FIYLLSPLRS
360 370 380 390 400
VTIEKCRNSI FVLGPVGTTL HLHSCDNVKV IAVCHRLSIS STTGCIFHVL
410 420 430 440 450
TPTRPLILSG NQTVTFAPFH THYPMLEDHM ARTGLATVPN YWDNPMVVCR
460 470 480 490 500
ENSDTRVFQL LPPCEFYVFI IPFEMEGDTT EIPGGLPSVY QKALGQREQK
510 520 530 540 550
IQIWQKTVKE AHLTKDQRKQ FQVLVENKFY EWLINTGHRQ QLDSLVPPAA

GSKQAAG
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:
EMBLi
GenBanki
DDBJi
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]
CCDS75061.1. [Q9NVR7-2]
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.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
CCDS75061.1. [Q9NVR7-2]
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi120470. 15 interactions.
IntActiQ9NVR7. 2 interactions.
MINTiMINT-7716720.
STRINGi9606.ENSP00000341652.

PTM databases

PhosphoSiteiQ9NVR7.

Polymorphism and mutation databases

BioMutaiTBCCD1.
DMDMi74734544.

Proteomic databases

MaxQBiQ9NVR7.
PaxDbiQ9NVR7.
PRIDEiQ9NVR7.

Protocols and materials databases

DNASUi55171.
Structural Biology KnowledgebaseSearch...

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.

Organism-specific databases

CTDi55171.
GeneCardsiGC03M186263.
HGNCiHGNC:25546. TBCCD1.
neXtProtiNX_Q9NVR7.
PharmGKBiPA143485628.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG274981.
GeneTreeiENSGT00470000042284.
HOGENOMiHOG000008162.
HOVERGENiHBG108549.
InParanoidiQ9NVR7.
KOiK16810.
OMAiRMVVMSQ.
OrthoDBiEOG71P29F.
PhylomeDBiQ9NVR7.
TreeFamiTF329418.

Miscellaneous databases

GenomeRNAii55171.
NextBioi35470384.
PROiQ9NVR7.

Gene expression databases

BgeeiQ9NVR7.
CleanExiHS_TBCCD1.
ExpressionAtlasiQ9NVR7. baseline and differential.
GenevisibleiQ9NVR7. HS.

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]
ProtoNetiSearch...

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: June 24, 2015
This is version 109 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.