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TBCA tubulin folding cofactor A [ Homo sapiens (human) ]

Gene ID: 6902, updated on 23-Nov-2023

Summary

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Official Symbol
TBCAprovided by HGNC
Official Full Name
tubulin folding cofactor Aprovided by HGNC
Primary source
HGNC:HGNC:11579
See related
Ensembl:ENSG00000171530 MIM:610058; AllianceGenome:HGNC:11579
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Expression
Ubiquitous expression in adrenal (RPKM 23.9), kidney (RPKM 17.1) and 25 other tissues See more
Orthologs
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Genomic context

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See TBCA in Genome Data Viewer
Location:
5q14.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (77691166..77776339, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (78173750..78258323, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (76986991..77072163, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene WD repeat domain 41 Neighboring gene ribosomal protein L7 pseudogene 23 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:76924162-76924727 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:76928018-76928518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22701 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:76934524-76935080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:76935081-76935635 Neighboring gene VISTA enhancer hs262 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16113 Neighboring gene orthopedia homeobox Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:77047116-77047753 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:77068972-77069857 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:77069858-77070742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16115 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:77105415-77106614 Neighboring gene ACTB pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:77140391-77141257 Neighboring gene TCBA and LOC101929154 interval homotypic clusters of transcription factor binding sites enhancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:77147023-77147532 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:77147533-77148040 Neighboring gene NANOG hESC enhancer GRCh37_chr5:77167707-77168240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22703 Neighboring gene uncharacterized LOC101929154 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:77230857-77231031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:77253041-77253552 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:77254064-77254574 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:77254575-77255085

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Tubulin cofactor A functions as a novel positive regulator of ccRCC progression, invasion and metastasis. Zhang P, et al. Int J Cancer, 2013 Dec 15. PMID 23740643
  2. Tubulin cofactor A gene silencing in mammalian cells induces changes in microtubule cytoskeleton, cell cycle arrest and cell death. Nolasco S, et al. FEBS Lett, 2005 Jul 4. PMID 15963512
  3. Three-dimensional structure of human tubulin chaperone cofactor A. Guasch A, et al. J Mol Biol, 2002 May 10. PMID 12054808
  4. Chaperonin-mediated folding of actin and tubulin. Lewis SA, et al. J Cell Biol, 1996 Jan. PMID 8567715, Free PMC Article
  5. Pathway leading to correctly folded beta-tubulin. Tian G, et al. Cell, 1996 Jul 26. PMID 8706133

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. overexpression of TBCA did not induce biocharacteristics that directly contrasted to those of TBCA knockdown
    Title: Tubulin cofactor A functions as a novel positive regulator of ccRCC progression, invasion and metastasis.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  3. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: A genome-wide study reveals copy number variants exclusive to childhood obesity cases.
  4. TBCA is essential for cell viability and its knockdown produces a decrease in the amount of soluble tubulin, modifications in microtubules and G1 cell cycle arrest.
    Title: Tubulin cofactor A gene silencing in mammalian cells induces changes in microtubule cytoskeleton, cell cycle arrest and cell death.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ46538

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables beta-tubulin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-folding chaperone binding TAS
Traceable Author Statement
more info
 PubMed 
enables tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in post-chaperonin tubulin folding pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in protein folding IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein folding TAS
Traceable Author Statement
more info
 PubMed 
involved_in tubulin complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytoplasm TAS
Traceable Author Statement
more info
 PubMed 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  
is_active_in microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
tubulin-specific chaperone A
Names
CFA
TCP1-chaperonin cofactor A
chaperonin cofactor A
epididymis secretory sperm binding protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001297738.2 → NP_001284667.1  tubulin-specific chaperone A isoform 1

    See identical proteins and their annotated locations for NP_001284667.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC026717, AK300031, DC312139
    Consensus CDS
    CCDS75263.1
    UniProtKB/Swiss-Prot
    O75347
    Related
    ENSP00000306362.6, ENST00000306388.10
    Conserved Domains (1) summary
    pfam02970
    Location:9 → 84
    TBCA; Tubulin binding cofactor A

  2. NM_001297740.2 → NP_001284669.1  tubulin-specific chaperone A isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate splice site in the 3' region, which results in alternate translation stop codon, compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC026717, DC312139, HY015414
    Consensus CDS
    CCDS78024.1
    UniProtKB/TrEMBL
    E5RIX8
    Related
    ENSP00000429288.1, ENST00000520361.5
    Conserved Domains (1) summary
    pfam02970
    Location:9 → 55
    TBCA; Tubulin binding cofactor A

  3. NM_004607.3 → NP_004598.1  tubulin-specific chaperone A isoform 2

    See identical proteins and their annotated locations for NP_004598.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has a split 3' terminal exon, which results in an alternate translation stop codon, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC026717, BC018210, DB538817
    Consensus CDS
    CCDS4040.1
    UniProtKB/Swiss-Prot
    B4DT30, O75347
    UniProtKB/TrEMBL
    E5RHG6, Q6FGD7
    Related
    ENSP00000369736.4, ENST00000380377.9
    Conserved Domains (1) summary
    pfam02970
    Location:9 → 94
    TBCA; Tubulin binding cofactor A

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    77691166..77776339 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    78173750..78258323 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75347.3 GenPept UniProtKB/Swiss-Prot:O75347

Gene LinkOut

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