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

    Gene ID: 6902, updated on 3-Nov-2024

    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (77691166..77776339, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (78173750..78258323, complement)
    RS_2024_09 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 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 (58) 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)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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