• Gene id: 126731

Gene Summary

• Gene Symbol: CCSAP   Gene   UCSC   Ensembl
• Aliases: C1orf96, CSAP
• Gene name: centriole, cilia and spindle associated protein
• Alternate names: centriole, cilia and spindle-associated protein, centriole and spindle-associated protein,
• Gene location: 1q42.13 (229343794: 229321014)     Exons: 4     NC_000001.11
• OMIM: 300561

Protein Summary

• Protein general information: Q6IQ19  
  • Name: Centriole, cilia and spindle associated protein
  • Length: 270  
  • Mass: 30216
• Sequence:

  MSPGSGVKSEYMKRYQEPRWEEYGPCYRELLHYRLGRRLLEQAHAPWLWDDWGPAGSSEDSASSESSGAGGPAPR
  CAPPSPPPPVEPATQEEAERRARGAPEEQDAEAGDAEAEDAEDAALPALPVKDVEDKPEQQTRTRETDKSPTSTE
  PRQQPSALFARGNRKAVKSPQRSSSKIKENKHPFALYGWGEKQTDTGSQKTHNVCASAPVHEIHESALRAKNRRQ
  VEKRKLVAQRQRAHSVDVEKNRKMKASSSENPWMTEYMRCYSARA

• Structural information:
  • Interpro: IPR029774  
  • STRING: ENSP00000284617
• Other Databases: GeneCards:  CCSAP  Malacards:  CCSAP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060296	regulation of cilium beat frequency involved in ciliary motility	IBA	biological process
GO:0036064	ciliary basal body	IBA	cellular component
GO:0035869	ciliary transition zone	IBA	cellular component
GO:0030424	axon	IBA	cellular component
GO:0005930	axoneme	IBA	cellular component
GO:0005819	spindle	IBA	cellular component
GO:0005814	centriole	IBA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0035869	ciliary transition zone	IDA	cellular component
GO:0030424	axon	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0008017	microtubule binding	IDA	molecular function
GO:1990755	mitotic spindle microtubule depolymerization	IDA	biological process
GO:0061673	mitotic spindle astral microtubule	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0005819	spindle	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0060296	regulation of cilium beat frequency involved in ciliary motility	ISS	biological process
GO:1901673	regulation of mitotic spindle assembly	IMP	biological process
GO:0045995	regulation of embryonic development	ISS	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005874	microtubule	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005819	spindle	IEA	cellular component

Diseases

Associated diseases	References
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