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Aliases for TBCC Gene

Aliases for TBCC Gene

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

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 Hypoparathyroidism-Retardation-Dysmorphism Syndrome and Retinitis Pigmentosa. Among its related pathways are Chaperonin-mediated protein folding and Metabolism of proteins. 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 CIViC summary , 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

Enhancers for TBCC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G042769 1.8 FANTOM5 Ensembl ENCODE dbSUPER 22 -25.3 -25268 3.0 HDGF PKNOX1 ZBTB40 ZNF143 ZNF207 RELB ETV6 IKZF2 CREM HCFC1 TBCC RPL7L1 TRERF1 C6orf226 PRPH2 BICRAL GNMT UBR2 CUL9 CNPY3
GH06G042773 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.3 -29.5 -29478 4.4 HDGF ATF1 PKNOX1 CREB3L1 SIN3A ARID4B ZNF121 CBX5 FOS ZNF263 TBCC RPL7L1 TRERF1 BICRAL C6orf226 UBR2 CUL9 LOC401261 PIR49302
GH06G042386 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4 +356.7 356743 5.6 ZBTB40 ZFHX2 POLR2A EED SCRT2 PRDM10 NR2F6 IKZF2 EGR2 MTA2 TRERF1 CCND3 TBCC UBR2 TAF8 GC06M042412 LOC105375061
GH06G042725 1.4 FANTOM5 ENCODE 4 +19.0 18964 2.5 FOXA2 ATF1 ARNT AGO1 ARID4B ZNF2 YY1 SLC30A9 ZNF143 ZNF207 PRPH2 TBCC KLC4 TRERF1 CUL9 C6orf226 PIR39670 ATP6V0CP3
GH06G042366 1.7 FANTOM5 Ensembl ENCODE dbSUPER 1.1 +378.0 378046 4.2 HDGF PTBP1 TBL1XR1 WRNIP1 ZBTB7B ZNF121 EGR1 RCOR1 RELB ETV6 UBR2 GUCA1B TRERF1 CCND3 TBCC GC06M042412 LOC105375061
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBCC on UCSC Golden Path with GeneCards custom track

Promoters for TBCC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000197043 -354 3401 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3

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

Post-translational modifications for TBCC Gene

  • Ubiquitination at isoforms=312
  • Modification sites at PhosphoSitePlus

Other Protein References for TBCC Gene

ENSEMBL proteins:
REFSEQ proteins:

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 :
  • Belongs to the TBCC family.
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:0015631 tubulin binding IEA --
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

CRISPR Products

miRNA for TBCC Gene

miRTarBase miRNAs that target TBCC

Inhibitory RNA Products

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBCC gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3

Gene Ontology (GO) - Cellular Components for TBCC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 12417528
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton TAS 8706133
GO:0005874 microtubule TAS 8706133
GO:0032391 photoreceptor connecting cilium IDA 12417528
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 IID

Gene Ontology (GO) - Biological Process for TBCC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS 8706133
GO:0007021 tubulin complex assembly IBA --
GO:0007023 post-chaperonin tubulin folding pathway TAS,IDA 11847227
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TBCC Gene



Protein tissue co-expression partners for TBCC Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBCC Gene:

TBCC

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).

Evidence on tissue expression from TISSUES for TBCC Gene

  • Lung(4.5)
  • Eye(4.2)
  • Nervous system(3.7)
genes like me logo Genes that share expression patterns with TBCC: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia TBCC 34 35
  • 85.99 (n)
cow
(Bos Taurus)
Mammalia TBCC 34 35
  • 84.15 (n)
rat
(Rattus norvegicus)
Mammalia Tbcc 34
  • 78.82 (n)
mouse
(Mus musculus)
Mammalia Tbcc 34 16 35
  • 78.79 (n)
oppossum
(Monodelphis domestica)
Mammalia TBCC 35
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBCC 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBCC 34
  • 66.1 (n)
lizard
(Anolis carolinensis)
Reptilia TBCC 35
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbcc 34
  • 60.34 (n)
Str.614 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.34775 34
zebrafish
(Danio rerio)
Actinopterygii tbccl 34
  • 56.13 (n)
tbcc 35
  • 42 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1897 34
fruit fly
(Drosophila melanogaster)
Insecta CG31961 34 35
  • 48.78 (n)
BcDNA:LD34582 36
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea Y71H2AM.24 35
  • 20 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons POR 34
  • 44.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToOne
Species where no ortholog for TBCC was found in the sources mined by GeneCards:
  • 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
rs1000622268 -- 42,744,361(+) ATAAT(C/T)CGAGT downstream-variant-500B
rs1000934969 -- 42,744,556(+) ATTAC(A/G)AAGCA utr-variant-3-prime
rs1001063165 -- 42,746,656(+) TTTTC(C/T)CTTCC upstream-variant-2KB
rs1001353028 -- 42,747,486(+) TCTGA(A/G)TTAAA intron-variant, upstream-variant-2KB
rs1002875511 -- 42,747,265(+) GGCGC(C/G)GCAGC intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv3576145 CNV gain 25503493
nsv1017398 CNV gain 25217958
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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBCC

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

Disorders for TBCC Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
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 64
  2. Pathway leading to correctly folded beta-tubulin. (PMID: 8706133) Tian G. … Cowan N.J. (Cell 1996) 2 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
  5. Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3. (PMID: 12417528) Grayson C. … Cheetham M.E. (Hum. Mol. Genet. 2002) 3 4 64

Products for TBCC Gene

Sources for TBCC Gene

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