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Aliases for TBCC Gene

Aliases for TBCC Gene

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

External Ids for TBCC Gene

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 spastic quadriplegia. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and 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

Genomic Location for TBCC Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBCC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBCC Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys312

Other Protein References for TBCC Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for TBCC Gene

Domains for TBCC Gene

Protein Domains for TBCC Gene

UniProtKB/Swiss-Prot:

TBCC_HUMAN
Domain:
  • Contains 1 C-CAP/cofactor C-like domain.:
    • Q15814
Family:
  • Belongs to the TBCC family.:
    • Q15814
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

miRNA for TBCC Gene

miRTarBase miRNAs that target TBCC

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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 4
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for TBCC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm 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 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:0006184 obsolete GTP catabolic process --
GO:0006457 protein folding TAS 8706133
GO:0007023 post-chaperonin tubulin folding pathway IDA 11847227
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with TBCC: view

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

Integrated Proteomics: protein expression 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 expressions with TBCC: view

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 36
  • 99.52 (n)
  • 99.13 (a)
TBCC 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBCC 36
  • 84.15 (n)
  • 79.42 (a)
TBCC 37
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBCC 36
  • 85.99 (n)
  • 81.08 (a)
TBCC 37
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbcc 36
  • 78.79 (n)
  • 76.83 (a)
Tbcc 16
Tbcc 37
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBCC 37
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBCC 37
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbcc 36
  • 78.82 (n)
  • 76.18 (a)
chicken
(Gallus gallus)
Aves TBCC 36
  • 66.1 (n)
  • 60.8 (a)
lizard
(Anolis carolinensis)
Reptilia TBCC 37
  • 50 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.34775 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.614 36
tbcc 36
  • 60.34 (n)
  • 53.48 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1897 36
zebrafish
(Danio rerio)
Actinopterygii tbcc 37
  • 42 (a)
OneToOne
tbccl 36
  • 56.13 (n)
  • 49.68 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31961 36
  • 48.78 (n)
  • 35.46 (a)
CG31961 37
  • 28 (a)
OneToOne
BcDNA:LD34582 38
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea Y71H2AM.24 37
  • 20 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons POR 36
  • 44.59 (n)
  • 34.8 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs2234024 -- 42,746,041(-) GCTGT(C/T)AGGAC reference, synonymous-codon
rs2234025 -- 42,746,032(-) ACCGG(A/C)GACAT reference, synonymous-codon
rs2234027 - 42,745,569(-) ACTCC(C/T)CGCTG reference, missense
rs2234028 - 42,745,536(-) TCGGC(C/T)CCAGC reference, missense
rs2234029 -- 42,745,485(-) AGAAG(A/C)GAGCC reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv830650 CNV Loss 17160897

Relevant External Links for TBCC Gene

HapMap Linkage Disequilibrium report
TBCC

Disorders for TBCC Gene

(1) University of Copenhagen DISEASES for TBCC Gene

Relevant External Links for TBCC

Genetic Association Database (GAD)
TBCC
genes like me logo Genes that share disorders with TBCC: view

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

Publications for TBCC Gene

  1. Pathway leading to correctly folded beta-tubulin. (PMID: 8706133) Tian G. … Cowan N.J. (Cell 1996) 2 3 4
  2. 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
  3. 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
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  5. 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

Products for TBCC Gene

Sources for TBCC Gene

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