TBCC tubulin folding cofactor C [Homo sapiens (human)] - Gene

Summary

Official Symbol: TBCCprovided by HGNC
Official Full Name: tubulin folding cofactor Cprovided by HGNC
Primary source: HGNC:HGNC:11580
See related: Ensembl:ENSG00000124659 MIM:602971; AllianceGenome:HGNC:11580
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
Also known as: CFC
Summary: 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]
Orthologs: mouse all
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Genomic context

Location:: 6p21.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (42744498..42746103, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (42573235..42574840, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (42712236..42713841, complement)

Chromosome 6 - NC_000006.12 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

a testable model for TBCC N-terminal domain/tubulin recognition in which the highly charged N-terminus as well as residues from the three helices and the loops interact with the acidic hypervariable regions of tubulin monomers
Title: The solution structure of the N-terminal domain of human tubulin binding cofactor C reveals a platform for tubulin interaction.
Microtubule dynamicity was reduced in breast cancer cells overexpressing TBCC. Cell cycle distribution was altered in cells containing larger amounts of TBCC. TBCC had little effect on cell proliferation.
Title: Tubulin binding cofactor C (TBCC) suppresses tumor growth and enhances chemosensitivity in human breast cancer cells.
functional overlap with retinitis pigmenosa 2 protein
Title: Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G19644 (e-PCR)
- UniSTS:39728

A001T48 (e-PCR)
- UniSTS:39729

RH69688 (e-PCR)
- UniSTS:80342

SGC31811 (e-PCR)
- UniSTS:23271

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
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	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in post-chaperonin tubulin folding pathway	IDA Inferred from Direct Assay more info	PubMed
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
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in microtubule	TAS Traceable Author Statement more info	PubMed
located_in photoreceptor connecting cilium	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: tubulin-specific chaperone C

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_003192.3 → NP_003183.2 tubulin-specific chaperone C

Status: REVIEWED

Source sequence(s)

AL353716

Consensus CDS

CCDS4872.1

UniProtKB/Swiss-Prot

Q15814, Q53Y43, Q5T787

Related

ENSP00000361967.1, ENST00000372876.2

Conserved Domains (2) summary

pfam07986
Location:204 → 321

TBCC; Tubulin binding cofactor C

pfam16752
Location:29 → 135

TBCC_N; Tubulin-specific chaperone C N-terminal domain