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Aliases for TBCC Gene

Aliases for TBCC Gene

  • Tubulin Folding Cofactor C 2 3 5
  • Tubulin-Folding Cofactor C 3 4
  • CFC 3 4
  • Tubulin-Specific Chaperone C 2

External Ids for TBCC Gene

Previous GeneCards Identifiers for TBCC Gene

  • GC06M042714
  • GC06M042759
  • GC06M042820
  • GC06M042712
  • GC06M042430

Summaries for TBCC Gene

Entrez Gene Summary for TBCC Gene

  • 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]

GeneCards Summary for TBCC Gene

TBCC (Tubulin Folding Cofactor C) is a Protein Coding gene. Diseases associated with TBCC include retinitis pigmentosa 2 and hypoparathyroidism-retardation-dysmorphism syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Chaperonin-mediated protein folding. GO annotations related to this gene include GTPase activity and chaperone binding. An important paralog of this gene is RP2.

UniProtKB/Swiss-Prot for TBCC Gene

  • Tubulin-folding protein; involved in the final step of the tubulin folding pathway.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBCC Gene

Genomics for TBCC Gene

Regulatory Elements for TBCC Gene

Promoters for TBCC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TBCC on UCSC Golden Path with GeneCards custom track

Genomic Location for TBCC Gene

Chromosome:
6
Start:
42,744,481 bp from pter
End:
42,746,146 bp from pter
Size:
1,666 bases
Orientation:
Minus strand

Genomic View for TBCC Gene

Genes around TBCC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBCC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBCC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBCC Gene

Proteins for TBCC Gene

  • Protein details for TBCC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15814-TBCC_HUMAN
    Recommended name:
    Tubulin-specific chaperone C
    Protein Accession:
    Q15814
    Secondary Accessions:
    • Q53Y43
    • Q5T787

    Protein attributes for TBCC Gene

    Size:
    346 amino acids
    Molecular mass:
    39248 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for TBCC Gene

neXtProt entry for TBCC Gene

Proteomics data for TBCC Gene at MOPED

Post-translational modifications for TBCC Gene

  • Ubiquitination at Lys 312
  • Modification sites at PhosphoSitePlus

Other Protein References for TBCC Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for TBCC Gene

Domains & Families for TBCC Gene

Suggested Antigen Peptide Sequences for TBCC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15814

UniProtKB/Swiss-Prot:

TBCC_HUMAN :
  • Contains 1 C-CAP/cofactor C-like domain.
  • Belongs to the TBCC family.
Domain:
  • Contains 1 C-CAP/cofactor C-like domain.
Family:
  • Belongs to the TBCC family.
genes like me logo Genes that share domains with TBCC: view

No data available for Gene Families for TBCC Gene

Function for TBCC Gene

Molecular function for TBCC Gene

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

Gene Ontology (GO) - Molecular Function for TBCC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IDA 11847227
GO:0051087 chaperone binding TAS 8706133
genes like me logo Genes that share ontologies with TBCC: view
genes like me logo Genes that share phenotypes with TBCC: view

Animal Model Products

miRNA for TBCC Gene

miRTarBase miRNAs that target TBCC

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBCC Gene

Localization for TBCC Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBCC Gene

Cytoplasm. Note=Detected predominantly in the photoreceptor connecting cilium.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBCC Gene COMPARTMENTS Subcellular localization image for TBCC gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for TBCC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005874 microtubule TAS 8706133
genes like me logo Genes that share ontologies with TBCC: view

Pathways & Interactions for TBCC Gene

genes like me logo Genes that share pathways with TBCC: view

Pathways by source for TBCC Gene

Interacting Proteins for TBCC Gene

Selected Interacting proteins: Q15814-TBCC_HUMAN for TBCC Gene via I2D

Symbol External ID(s) Details
SULT1E1

Gene Ontology (GO) - Biological Process for TBCC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IEA --
GO:0007023 post-chaperonin tubulin folding pathway IDA 11847227
GO:0051084 de novo posttranslational protein folding TAS --
genes like me logo Genes that share ontologies with TBCC: view

No data available for SIGNOR curated interactions for TBCC Gene

Drugs & Compounds for TBCC Gene

No Compound Related Data Available

Transcripts for TBCC Gene

mRNA/cDNA for TBCC Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TBCC Gene

Tubulin folding cofactor C:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBCC Gene

No ASD Table

Relevant External Links for TBCC Gene

GeneLoc Exon Structure for
TBCC
ECgene alternative splicing isoforms for
TBCC

Expression for TBCC Gene

mRNA expression in normal human tissues for TBCC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TBCC Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.0) and Cervix (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for TBCC Gene



SOURCE GeneReport for Unigene cluster for TBCC Gene Hs.75064

mRNA Expression by UniProt/SwissProt for TBCC Gene

Q15814-TBCC_HUMAN
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).
genes like me logo Genes that share expression patterns with TBCC: view

Protein tissue co-expression partners for TBCC Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for TBCC Gene

Orthologs for TBCC Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TBCC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBCC 35
  • 99.52 (n)
  • 99.13 (a)
TBCC 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBCC 36
  • 79 (a)
OneToOne
TBCC 35
  • 84.15 (n)
  • 79.42 (a)
dog
(Canis familiaris)
Mammalia TBCC 35
  • 85.99 (n)
  • 81.08 (a)
TBCC 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbcc 36
  • 76 (a)
OneToOne
Tbcc 16
Tbcc 35
  • 78.79 (n)
  • 76.83 (a)
oppossum
(Monodelphis domestica)
Mammalia TBCC 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBCC 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbcc 35
  • 78.82 (n)
  • 76.18 (a)
chicken
(Gallus gallus)
Aves TBCC 35
  • 66.1 (n)
  • 60.8 (a)
lizard
(Anolis carolinensis)
Reptilia TBCC 36
  • 50 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.34775 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.614 35
tbcc 35
  • 60.34 (n)
  • 53.48 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1897 35
zebrafish
(Danio rerio)
Actinopterygii tbcc 36
  • 42 (a)
OneToOne
tbccl 35
  • 56.13 (n)
  • 49.68 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31961 36
  • 28 (a)
OneToOne
BcDNA:LD34582 37
  • 31 (a)
CG31961 35
  • 48.78 (n)
  • 35.46 (a)
worm
(Caenorhabditis elegans)
Secernentea Y71H2AM.24 36
  • 20 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons POR 35
  • 44.59 (n)
  • 34.8 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToOne
Species with no ortholog for TBCC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBCC Gene

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

Paralogs for TBCC Gene

Paralogs for TBCC Gene

genes like me logo Genes that share paralogs with TBCC: view

Variants for TBCC Gene

Sequence variations from dbSNP and Humsavar for TBCC Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_020448 -
VAR_024653 -
VAR_026822 -
VAR_026823 -
VAR_026824 -

Structural Variations from Database of Genomic Variants (DGV) for TBCC Gene

Variant ID Type Subtype PubMed ID
nsv830650 CNV Loss 17160897

Variation tolerance for TBCC Gene

Residual Variation Intolerance Score: 88.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.91; 48.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBCC Gene

HapMap Linkage Disequilibrium report
TBCC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBCC Gene

Disorders for TBCC Gene

MalaCards: The human disease database

(3) MalaCards diseases for TBCC Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 2
  • x-linked retinitis pigmentosa 2
hypoparathyroidism-retardation-dysmorphism syndrome
  • hrd syndrome
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search TBCC in MalaCards View complete list of genes associated with diseases

Relevant External Links for TBCC

Genetic Association Database (GAD)
TBCC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBCC
genes like me logo Genes that share disorders with TBCC: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TBCC Gene

Publications for TBCC Gene

  1. Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C. (PMID: 11847227) Bartolini F. … Cowan N.J. (J. Biol. Chem. 2002) 2 3 4 67
  2. Pathway leading to correctly folded beta-tubulin. (PMID: 8706133) Tian G. … Cowan N.J. (Cell 1996) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3
  5. The solution structure of the N-terminal domain of human tubulin binding cofactor C reveals a platform for tubulin interaction. (PMID: 22028797) Garcia-Mayoral M.F. … Bruix M. (PLoS ONE 2011) 3

Products for TBCC Gene

Sources for TBCC Gene

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