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Aliases for TBCA Gene

Aliases for TBCA Gene

  • Tubulin Folding Cofactor A 2 3 5
  • Tubulin-Folding Cofactor A 3 4
  • TCP1-Chaperonin Cofactor A 3 4
  • CFA 3 4
  • Tubulin-Specific Chaperone A 2
  • Chaperonin Cofactor A 3

External Ids for TBCA Gene

Previous GeneCards Identifiers for TBCA Gene

  • GC05M075792
  • GC05M077221
  • GC05M077025
  • GC05M077071
  • GC05M077022
  • GC05M072194

Summaries for TBCA Gene

Entrez Gene Summary for TBCA Gene

  • The product of this gene 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. This gene encodes chaperonin cofactor A. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

GeneCards Summary for TBCA Gene

TBCA (Tubulin Folding Cofactor A) is a Protein Coding gene. Diseases associated with TBCA include hypoparathyroidism-retardation-dysmorphism syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding. GO annotations related to this gene include poly(A) RNA binding and chaperone binding.

UniProtKB/Swiss-Prot for TBCA Gene

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

Gene Wiki entry for TBCA Gene

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

Genomics for TBCA Gene

Regulatory Elements for TBCA Gene

Enhancers for TBCA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TBCA on UCSC Golden Path with GeneCards custom track

Genomic Location for TBCA Gene

Chromosome:
5
Start:
77,691,166 bp from pter
End:
77,868,780 bp from pter
Size:
177,615 bases
Orientation:
Minus strand

Genomic View for TBCA Gene

Genes around TBCA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TBCA Gene

Proteins for TBCA Gene

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

    Protein Symbol:
    O75347-TBCA_HUMAN
    Recommended name:
    Tubulin-specific chaperone A
    Protein Accession:
    O75347
    Secondary Accessions:
    • B4DT30

    Protein attributes for TBCA Gene

    Size:
    108 amino acids
    Molecular mass:
    12855 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 TBCA Gene

    Alternative splice isoforms for TBCA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBCA Gene

Proteomics data for TBCA Gene at MOPED

Post-translational modifications for TBCA Gene

  • Ubiquitination at Lys 52 and Lys 105
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TBCA Gene

Domains & Families for TBCA Gene

Protein Domains for TBCA Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O75347

UniProtKB/Swiss-Prot:

TBCA_HUMAN :
  • Belongs to the TBCA family.
Family:
  • Belongs to the TBCA family.
genes like me logo Genes that share domains with TBCA: view

No data available for Gene Families for TBCA Gene

Function for TBCA Gene

Molecular function for TBCA Gene

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

Gene Ontology (GO) - Molecular Function for TBCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051087 chaperone binding TAS 8706133
genes like me logo Genes that share ontologies with TBCA: view
genes like me logo Genes that share phenotypes with TBCA: view

Animal Model Products

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

Localization for TBCA Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBCA Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBCA Gene COMPARTMENTS Subcellular localization image for TBCA gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 5
cytosol 3
mitochondrion 2

No data available for Gene Ontology (GO) - Cellular Components for TBCA Gene

Pathways & Interactions for TBCA Gene

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

Pathways by source for TBCA Gene

Gene Ontology (GO) - Biological Process for TBCA Gene

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

No data available for SIGNOR curated interactions for TBCA Gene

Drugs & Compounds for TBCA Gene

No Compound Related Data Available

Transcripts for TBCA Gene

Unigene Clusters for TBCA Gene

Tubulin folding cofactor A:
Representative Sequences:

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

No ASD Table

Relevant External Links for TBCA Gene

GeneLoc Exon Structure for
TBCA
ECgene alternative splicing isoforms for
TBCA

Expression for TBCA Gene

mRNA expression in normal human tissues for TBCA Gene

Protein differential expression in normal tissues from HIPED for TBCA Gene

This gene is overexpressed in Lavage (7.2).

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



SOURCE GeneReport for Unigene cluster for TBCA Gene Hs.291212

genes like me logo Genes that share expression patterns with TBCA: view

Protein tissue co-expression partners for TBCA Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TBCA Gene

Orthologs for TBCA Gene

This gene was present in the common ancestor of animals.

Orthologs for TBCA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TBCA 35
  • 89.2 (n)
  • 91.67 (a)
TBCA 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBCA 35
  • 90.98 (n)
  • 90.59 (a)
TBCA 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbca 35
  • 87.04 (n)
  • 92.59 (a)
Tbca 16
Tbca 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TBCA 35
  • 99.38 (n)
  • 100 (a)
TBCA 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbca 35
  • 86.11 (n)
  • 93.52 (a)
oppossum
(Monodelphis domestica)
Mammalia TBCA 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBCA 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBCA 35
  • 80.25 (n)
  • 82.41 (a)
TBCA 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 78 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.691 35
tbca 35
  • 76.85 (n)
  • 80.56 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.20053 35
zebrafish
(Danio rerio)
Actinopterygii tbca 35
  • 65.74 (n)
  • 75 (a)
zgc56262 35
tbca 36
  • 75 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12295 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002130 35
  • 59.43 (n)
  • 51.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1890 35
  • 50.47 (n)
  • 42.99 (a)
CG1890 36
  • 42 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y39G10AR.20 36
  • 33 (a)
OneToOne
Species with no ortholog for TBCA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBCA Gene

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

Paralogs for TBCA Gene

Pseudogenes.org Pseudogenes for TBCA Gene

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

No data available for Paralogs for TBCA Gene

Variants for TBCA Gene

Sequence variations from dbSNP and Humsavar for TBCA Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs3236 -- 77,761,801(-) GAGAC(A/G)AAAAC intron-variant
rs2652203 -- 77,690,755(+) GTCCT(C/G)GAAAA downstream-variant-500B
rs2652206 -- 77,691,022(+) CCCCA(A/G)TAGTT downstream-variant-500B
rs2652207 -- 77,695,108(+) AATGA(A/C)TAGGT intron-variant
rs2652208 -- 77,698,730(+) AAAAA(A/C)GAAAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv823103 CNV Loss 20364138
esv2669417 CNV Deletion 23128226
esv2730329 CNV Deletion 23290073
esv7921 CNV Loss 19470904
esv259947 OTHER Complex 20981092
esv2538870 CNV Deletion 19546169
esv2228193 CNV Deletion 18987734
esv4231 CNV Deletion 18987735
esv7635 CNV Loss 19470904
nsv328235 CNV Loss 16902084
esv2730330 CNV Deletion 23290073
esv989167 CNV Deletion 20482838
esv1483892 CNV Deletion 17803354

Variation tolerance for TBCA Gene

Residual Variation Intolerance Score: 53.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.92; 19.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBCA Gene

HapMap Linkage Disequilibrium report
TBCA

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

Disorders for TBCA Gene

MalaCards: The human disease database

(1) MalaCards diseases for TBCA Gene - From: DISEASES

Disorder Aliases PubMed IDs
hypoparathyroidism-retardation-dysmorphism syndrome
  • hrd syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TBCA in MalaCards View complete list of genes associated with diseases

Relevant External Links for TBCA

Genetic Association Database (GAD)
TBCA
Human Genome Epidemiology (HuGE) Navigator
TBCA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBCA
genes like me logo Genes that share disorders with TBCA: view

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

Publications for TBCA Gene

  1. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full- length cDNA cloning. (PMID: 9653160) Mao M. … Chen Z. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 67
  2. Pathway leading to correctly folded beta-tubulin. (PMID: 8706133) Tian G. … Cowan N.J. (Cell 1996) 2 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3

Products for TBCA Gene

Sources for TBCA Gene

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