• Gene id: 6905

Gene Summary

• Gene Symbol: TBCE   Gene   UCSC   Ensembl
• Aliases: HRD, KCS, KCS1, PEAMO, pac2
• Gene name: tubulin folding cofactor E
• Alternate names: tubulin-specific chaperone E, hypoparathyroidism, growth and mental retardation, and dysmorphism,
• Gene location: 1q42.3 (235367359: 235452442)     Exons: 18     NC_000001.11
• Gene summary(Entrez): Cofactor E 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: 607838

Protein Summary

• Protein general information: Q15813  
  • Name: Tubulin specific chaperone E (Tubulin folding cofactor E)
  • Length: 527  
  • Mass: 59346
• Sequence:

  MSDTLTADVIGRRVEVNGEHATVRFAGVVPPVAGPWLGVEWDNPERGKHDGSHEGTVYFKCRHPTGGSFIRPNKV
  NFGTDFLTAIKNRYVLEDGPEEDRKEQIVTIGNKPVETIGFDSIMKQQSQLSKLQEVSLRNCAVSCAGEKGGVAE
  ACPNIRKVDLSKNLLSSWDEVIHIADQLRHLEVLNVSENKLKFPSGSVLTGTLSVLKVLVLNQTGITWAEVLRCV
  AGCPGLEELYLESNNIFISERPTDVLQTVKLLDLSSNQLIDENQLYLIAHLPRLEQLILSDTGISSLHFPDAGIG
  CKTSMFPSLKYLVVNDNQISQWSFFNELEKLPSLRALSCLRNPLTKEDKEAETARLLIIASIGQLKTLNKCEILP
  EERRRAELDYRKAFGNEWKQAGGHKDPEKNRLSEEFLTAHPRYQFLCLKYGAPEDWELKTQQPLMLKNQLLTLKI
  KYPHQLDQKVLEKQLPGSMTIQKVKGLLSRLLKVPVSDLLLSYESPKKPGREIELENDLKSLQFYSVENGDCLLV
  RW

• Structural information:
  • Protein Domains: (27..7-)
    (/note="CAP-Gly-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00045-)
    (342..38-)
    (/note="LRRCT"-)
  • Interpro: IPR036859  IPR000938  IPR032675  IPR000626  IPR029071  
  • Prosite: PS00845 PS50245
  • PDB: 4ICU 4ICV
  • PDBsum: 4ICU 4ICV
  • STRING: ENSP00000439170
• Other Databases: GeneCards:  TBCE  Malacards:  TBCE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043014	alpha-tubulin binding	IBA	molecular function
GO:0007023	post-chaperonin tubulin folding pathway	IBA	biological process
GO:0007021	tubulin complex assembly	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0000226	microtubule cytoskeleton organization	IBA	biological process
GO:0007023	post-chaperonin tubulin folding pathway	IDA	biological process
GO:0007052	mitotic spindle organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000226	microtubule cytoskeleton organization	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0051087	chaperone binding	TAS	molecular function
GO:0005874	microtubule	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0006457	protein folding	TAS	biological process

Diseases

Associated diseases	References
Kenny-Caffey syndrome	KEGG:H00619
Hypoparathyroidism-retardation-dysmorphism syndrome	KEGG:H00622
Kenny-Caffey syndrome	KEGG:H00619
Hypoparathyroidism-retardation-dysmorphism syndrome	KEGG:H00622
Hypoparathyroidism	PMID:12389028
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq