• Gene id: 6903

Gene Summary

• Gene Symbol: TBCC   Gene   UCSC   Ensembl
• Aliases: CFC
• Gene name: tubulin folding cofactor C
• Alternate names: tubulin-specific chaperone C,
• Gene location: 6p21.1 (42199688: 42304386)     Exons: 23     NC_000021.9
• Gene summary(Entrez): 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 intermediate
• OMIM: 602971

Protein Summary

• Protein general information: Q15814  
  • Name: Tubulin specific chaperone C (Tubulin folding cofactor C) (CFC)
  • Length: 346  
  • Mass: 39248
  • Tissue specificity: Expressed in the retina. Expressed in the rod and cone photoreceptors, extending from the inner segments (IS), through the outer nuclear layer (ONL) and into the synapses in the outer plexiform layer (OPL). Strongly expressed to the ph
• Sequence:

  MESVSCSAAAVRTGDMESQRDLSLVPERLQRREQERQLEVERRKQKRQNQEVEKENSHFFVATFVRERAAVEELL
  ERAESVERLEEAASRLQGLQKLINDSVFFLAAYDLRQGQEALARLQAALAERRRGLQPKKRFAFKTRGKDAASST
  KVDAAPGIPPAVESIQDSPLPKKAEGDLGPSWVCGFSNLESQVLEKRASELHQRDVLLTELSNCTVRLYGNPNTL
  RLTKAHSCKLLCGPVSTSVFLEDCSDCVLAVACQQLRIHSTKDTRIFLQVTSRAIVEDCSGIQFAPYTWSYPEID
  KDFESSGLDRSKNNWNDVDDFNWLARDMASPNWSILPEEERNIQWD

• Structural information:
  • Protein Domains: (171..32-)
    (/note="C-CAP/cofactor-C-like)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00659"-)
  • Interpro: IPR017901  IPR016098  IPR006599  IPR027684  IPR031925   IPR038397  IPR012945  
  • Prosite: PS51329
  • PDB: 2L3L 2YUH
  • PDBsum: 2L3L 2YUH
  • DIP: 46388
  • STRING: ENSP00000361967
• Other Databases: GeneCards:  TBCC  Malacards:  TBCC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006457	protein folding	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0007021	tubulin complex assembly	IBA	biological process
GO:0003924	GTPase activity	IDA	molecular function
GO:0032391	photoreceptor connecting cilium	IDA	cellular component
GO:0007023	post-chaperonin tubulin folding pathway	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0000902	cell morphogenesis	IEA	biological process
GO:0015631	tubulin binding	IEA	molecular function
GO:0007023	post-chaperonin tubulin folding pathway	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0051087	chaperone binding	TAS	molecular function
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005874	microtubule	TAS	cellular component
GO:0007023	post-chaperonin tubulin folding pathway	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006457	protein folding	TAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881