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

Summary

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: mouse all
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Genomic context

Location:: 5q14.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (77691166..77776339, complement)
110	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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-17114 (e-PCR)
- UniSTS:13609

SHGC-34767 (e-PCR)
- UniSTS:9032

RH16205 (e-PCR)
- UniSTS:43109

G59514 (e-PCR)
- UniSTS:136677

SHGC-80068 (e-PCR)
- UniSTS:102126

Homology

Homologs of the TBCA gene: The TBCA gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 482 organisms have orthologs with human gene TBCA
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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	PubMed

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	PubMed
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	PubMed

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	PubMed
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)

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
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
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

Q6FGD7

Related

ENSP00000369736.4, ENST00000380377.9

Conserved Domains (1) summary

pfam02970
Location:9 → 94

TBCA; Tubulin binding cofactor A