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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TBCC Gene

protein-coding   GIFtS: 51
GCID: GC06M042712

tubulin folding cofactor C

(Previous name: tubulin-specific chaperone c )
 Explore 9 diseases affiliated with
TBCC via our new
 Human Malady Compendium 
Biological research products
for TBCC
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Tubulin Folding Cofactor C1 2
CFC1 2 3
Tubulin-Specific Chaperone C1 2
Tubulin-Folding Cofactor C2 3

External Ids:    HGNC: 115801   Entrez Gene: 69032   Ensembl: ENSG000001246597   OMIM: 6029715   UniProtKB: Q158143   

Export aliases for TBCC gene to outside databases

Previous GC identifers: GC06M042714 GC06M042759 GC06M042820 GC06M042430


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TBCC:
Cofactor C is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded
beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing
beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex;
interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native
state. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: TBCC_HUMAN, Q15814
Function: Tubulin-folding protein; involved in the final step of the tubulin folding pathway




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBCC gene promoter:
         Spz1   AML1a   CUTL1   RelA   Nkx2-5   Ik-3   Egr-4   Pax-4a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBCC promoter sequence
   Search SABiosciences Chromatin IP Primers for TBCC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBCC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.1   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21.1

TBCC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBCC gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M042712:  view genomic region     (about GC identifiers)

Start:
42,712,219 bp from pter      End:
42,714,558 bp from pter
Size:
2,340 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TBCC_HUMAN, Q15814 (See protein sequence)
Recommended Name: Tubulin-specific chaperone C  
Size: 346 amino acids; 39248 Da
Subunit: Supercomplex made of cofactors A to E. Cofactors A and D function by capturing and stabilizing tubulin in a
quasi-native conformation. Cofactor E binds to the cofactor D-tubulin complex; interaction with cofactor C then causes
the release of tubulin polypeptides that are committed to the native state
Subcellular location: Cytoplasm. Note=Detected predominantly in the photoreceptor connecting cilium
2 PDB 3D structures from and Proteopedia for TBCC:
2L3L (3D)        2YUH (3D)    
Secondary accessions: Q53Y43 Q5T787

Explore the universe of human proteins at neXtProt for TBCC: NX_Q15814

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15814

  • TBCC Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003183.1  
    ENSEMBL proteins: 
     ENSP00000361967   ENSP00000244625  
    Reactome Protein details: Q15814
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    Uscn Proteins for TBCC

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005856cytoskeleton TAS8706133
    GO:0005874microtubule TAS8706133
    GO:0032391photoreceptor connecting cilium IDA12417528


    TBCC for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TBCC for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR016098 CAP/MinC_C
     IPR006599 CARP_motif
     IPR017901 C-CAP_CF_C-like
     IPR012945 Tubulin-bd_cofactor_C

    Graphical View of Domain Structure for InterPro Entry Q15814

    ProtoNet protein and cluster: Q15814

    1 Blocks protein family: IPB012945 Tubulin binding cofactor C

    UniProtKB/Swiss-Prot: TBCC_HUMAN, Q15814
    Similarity: Belongs to the TBCC family
    Similarity: Contains 1 C-CAP/cofactor C-like domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: TBCC_HUMAN, Q15814
    Function: Tubulin-folding protein; involved in the final step of the tubulin folding pathway

    miRNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBCC

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IDA11847227
    GO:0051087chaperone binding TAS8706133


    TBCC for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Chaperonin-mediated protein folding
    Protein folding0.91
    2Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
    Post-chaperonin tubulin folding pathway0.67
    3Asparagine N-linked glycosylation
    Metabolism of proteins0.15

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for TBCC
        Post-chaperonin tubulin folding pathway
    Metabolism of proteins
    Protein folding



    TBCC for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBCC

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for TBCC (Q158143 ENSP000002446254) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SULT1E1P498883I2D: score=1 
    TBCDENSP000003477194STRING: ENSP00000347719
    TBCEENSP000003555604STRING: ENSP00000355560
    TUBB1ENSP000002171334STRING: ENSP00000217133
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000902cell morphogenesis IEA--
    GO:0006184GTP catabolic process IDA11847227
    GO:0006457protein folding TAS8706133
    GO:0007023post-chaperonin tubulin folding pathway IDA11847227
    GO:0044267cellular protein metabolic process TAS--


    TBCC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TBCC
    Search CenterWatch for drugs/clinical trials and news about TBCC 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TBCC gene: 
    NM_003192.2  

    Unigene Cluster for TBCC:

    Tubulin folding cofactor C
    Hs.75064  [show with all ESTs]
    Unigene Representative Sequence: BC017479
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372876(uc003osl.3) ENST00000490059 ENST00000244625

    miRNA
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    hsa-miR-548p hsa-miR-3622b-3p hsa-miR-3688-3p hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidTBCC 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK312681.1 BC017479.1 BC020170.1 BT007002.1 U61234.1 

    6 DOTS entries:

    DT.217954  DT.100791445  DT.100791451  DT.100791449  DT.95318606  DT.100791458 

    6 AceView cDNA sequences:

    BQ685338 BQ690260 AW961731 CF128410 BF971571 BE349632 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TBCC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGTCCGGGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See TBCC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBCC

    SOURCE GeneReport for Unigene cluster: Hs.75064

    UniProtKB/Swiss-Prot: TBCC_HUMAN, Q15814
    Tissue specificity: Expressed in the retina. Expressed in the rod and cone photoreceptors, extending from the inner
    segments (IS), through the outer nuclear layer (ONL) and into the synapses in the outer plexiform layer (OPL).
    Strongly expressed to the photoreceptor connecting cilium at the tips of the IS (at protein level)

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TBCC gene from 8/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TBCC1 tubulin folding cofactor C 66.29(n)
    61.36(a)
      428567  XM_003640938.1  XP_003640986.1 
    lizard
    (Anolis carolinensis)
    Reptilia TBCC6
    --
    50(a)
    1 ↔ 1
    1(236613088-236614089)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.347752 Xenopus laevis transcribed sequence with weak similarity more 82.7(n)    BG813106.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tbccl1 tubulin-specific chaperone c-like 56.13(n)
    49.68(a)
      553378  XM_001922454.2  XP_001922489.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:LD345823
    CG319611
    CG319611 31(a)3
    48.78(n)1
    35.46(a)1
      3190481  NM_164570.11  NP_722959.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y71H2AM.246
    rpi-26
    Protein RPI-2
    20(a)
    12(a)
    1 ↔ 1
    possible ortholog
    III(2788437-2792967)
    IV(1711278-1714178)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons POR1 C-CAP/cofactor C-like domain-containing protein 43.81(n)
    34.46(a)
      830151  NM_120155.3  NP_195702.1 
    rice
    (Oryza sativa)
    Liliopsida --
    tubulin binding cofactor C, putative, expressed
    28(a)
    1 ↔ 1
    2(21068084-21069364)


    ENSEMBL Gene Tree for TBCC (if available)
    TreeFam Gene Tree for TBCC (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBCC gene
    RP22  

    TBCC for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBCC
    DNA2.0 Custom Variant and Variant Library Synthesis for TBCC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TBCC for disorders           About GeneDecksing

    OMIM gene information: 602971    OMIM disorders: --

    9 diseases for TBCC:    About MalaCards
    retinitis pigmentosa-2    retinitis pigmentosa    retinitis    breast cancer
    malaria    spastic quadriplegia    quadriplegia    ichthyosis
    spasticity


    Export disorders for TBCC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TBCC gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with TBCC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C. (PubMed id 11847227)1, 2, 3 Bartolini F....Cowan N.J. (2002)
    2. Pathway leading to correctly folded beta-tubulin. (PubMed id 8706133)1, 2, 3 Tian G....Cowan N.J. (1996)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    5. Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3. (PubMed id 12417528)1, 2 Grayson C....Cheetham M.E. (2002)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Recessive mutations in ELOVL4 cause ichthyosis, intel lectual disability, and spastic quadriplegia. (PubMed id 22100072)2 Aldahmesh M.A....Alkuraya F.S. (2011)
    8. The solution structure of the N-terminal domain of hum an tubulin binding cofactor C reveals a platform for tubulin interaction. (PubMed id 22028797)1 Garcia-Mayoral M.F....Bruix M. (2011)
    9. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    10. Tubulin binding cofactor C (TBCC) suppresses tumor gr owth and enhances chemosensitivity in human breast cancer cells. (PubMed id 20384997)1 Hage-Sleiman R....Dumontet C. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6903 HGNC: 11580 AceView: TBCC Ensembl:ENSG00000124659 euGenes: HUgn6903
    ECgene: TBCC H-InvDB: TBCC

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TBCC Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TBCC Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TBCC gene:
    Search GeneIP for patents involving TBCC

    GeneCards and IP:
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    In Situ Hybridization Assays from
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     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TBCC
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     SwitchGear 3'UTR luciferase reporter plasmids for TBCC
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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