CCSAP: Centriole, Cilia and Spindle-Associated Protein
A microtubule-binding protein involved in centriole duplication and ciliogenesis
Gene Information Card
| Symbol | CCSAP |
|---|---|
| Full Name | Centriole, Cilia and Spindle-Associated Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 1q44 |
| NCBI Gene ID | 286053 ncbi.nlm.nih.gov/gene/286053 |
| Ensembl ID | ENSG00000162614 |
| UniProt ID | Q6ZP80 |
| OMIM ID | 615765 |
| HGNC ID | 29595 |
| Aliases | C1orf86, FLJ37970, MGC16384 |
Description
CCSAP encodes a microtubule-binding protein that localizes to centrioles, cilia, and the mitotic spindle. It is involved in centriole duplication, ciliogenesis, and spindle organization. The protein contains a conserved microtubule-binding domain and is essential for proper cell division and ciliary function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Disruption of ciliary assembly due to CCSAP dysfunction | ClinVar, OMIM |
| Joubert syndrome | Impaired ciliogenesis affecting cerebellar and retinal development | ClinVar |
| Retinitis pigmentosa | Defective ciliary transport in photoreceptor cells | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HEK293 | 8.7 | Embryonic kidney cells |
| A549 | 6.5 | Lung carcinoma cells |
| HepG2 | 4.3 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.01% | p.Arg412Trp; potential loss of function |
| c.567_568del | Frameshift | <0.01% | p.Glu190fs; predicted protein truncation |
| c.890A>G | Missense | <0.01% | p.Asn297Ser; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely cause loss of function, impairing centriole duplication and ciliogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations may exert dominant-negative effects by disrupting microtubule binding.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • centriole duplication |
| • ciliary assembly | • mitotic spindle organization |
| • cell cycle |
Pathways
• Ciliogenesis
• Centriole duplication
• Cell cycle
• mitotic
Protein Summary
CCSAP is a 789-amino acid protein with a molecular weight of approximately 88 kDa. It contains a conserved microtubule-binding domain and localizes to centrioles, cilia, and the mitotic spindle. The protein is essential for centriole duplication, ciliary assembly, and proper spindle organization during mitosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCSAP Knockout HEK293 Cell Line | EDJ-KQ8182 | Human | 126731 | Details Get a Quote |
| CCSAP Knockout A-549 Cell Line | EDJ-KQ35334 | Human | 126731 | Details Get a Quote |
| CCSAP Knockout HCT 116 Cell Line | EDJ-KQ35335 | Human | 126731 | Details Get a Quote |
| CCSAP Knockout HeLa Cell Line | EDJ-KQ35336 | Human | 126731 | Details Get a Quote |
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