• Gene id: 55166

Gene Summary

• Gene Symbol: CENPQ   Gene   UCSC   Ensembl
• Aliases: C6orf139, CENP-Q
• Gene name: centromere protein Q
• Alternate names: centromere protein Q,
• Gene location: 6p12.3 (49463326: 49493106)     Exons: 9     NC_000006.12
• Gene summary(Entrez): CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[sup

Protein Summary

• Protein general information: Q7L2Z9  
  • Name: Centromere protein Q (CENP Q)
  • Length: 268  
  • Mass: 30595
• Sequence:

  MSGKANASKKNAQQLKRNPKRKKDNEEVVLSENKVRNTVKKNKNHLKDLSSEGQTKHTNLKHGKTAASKRKTWQP
  LSKSTRDHLQTMMESVIMTILSNSIKEKEEIQYHLNFLKKRLLQQCETLKVPPKKMEDLTNVSSLLNMERARDKA
  NEEGLALLQEEIDKMVETTELMTGNIQSLKNKIQILASEVEEEEERVKQMHQINSSGVLSLPELSQKTLKAPTLQ
  KEILALIPNQNALLKDLDILHNSSQMKSMSTFIEEAYKKLDAS

• Structural information:
  • Interpro: IPR025212  
  • STRING: ENSP00000337289
• Other Databases: GeneCards:  CENPQ  Malacards:  CENPQ

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000776	kinetochore	IBA	cellular component
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:1905342	positive regulation of protein localization to kinetochore	IBA	biological process
GO:0051310	metaphase plate congression	IBA	biological process
GO:1905342	positive regulation of protein localization to kinetochore	IMP	biological process
GO:0051310	metaphase plate congression	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0034080	CENP-A containing nucleosome assembly	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R