CSPP1: Centrosome and Spindle Pole Associated Protein 1
A key regulator of ciliogenesis and cell division, implicated in Joubert syndrome and other ciliopathies.
Gene Information Card
| Symbol | CSPP1 |
|---|---|
| Full Name | Centrosome and spindle pole associated protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q13.1 |
| NCBI Gene ID | 79848 ncbi.nlm.nih.gov/gene/79848 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q1MSJ5 |
| OMIM ID | 611654 |
| HGNC ID | 26172 |
| Aliases | CSPP, FLJ22490, PRO2730, JBTS21 |
Description
CSPP1 encodes a centrosome and spindle pole associated protein that is essential for ciliogenesis and cell cycle progression. The protein localizes to the centrosome and the spindle poles during mitosis, and is required for primary cilium assembly. Mutations in CSPP1 cause Joubert syndrome 21, a ciliopathy characterized by cerebellar vermis hypoplasia, intellectual disability, and retinal dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome 21 (JBTS21) | Loss-of-function mutations in CSPP1 disrupt ciliogenesis, leading to defective primary cilium signaling in the brain, retina, and kidney. | OMIM #615636; multiple case reports in ClinVar and literature. |
| Meckel-Gruber syndrome (MKS) | Biallelic CSPP1 mutations have been reported in a subset of MKS patients, with severe ciliary defects. | OMIM #249000; rare case reports. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain (cerebellum) | 12.8 | Medium |
| Kidney | 10.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | Embryonic kidney cells; high expression |
| HeLa | 14.7 | Cervical carcinoma; moderate expression |
| HepG2 | 9.2 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246C>T (p.Arg416*) | Nonsense | Rare | Premature stop; loss of function; associated with Joubert syndrome. |
| c.2113_2114del (p.Gln705Valfs*2) | Frameshift deletion | Rare | Frameshift; loss of function; reported in Joubert syndrome. |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation; loss of function; associated with Joubert syndrome. |
Mutation functional classification
Loss of Function (LOF)
Most CSPP1 disease-associated mutations are loss-of-function (nonsense, frameshift, splice-site), leading to truncated or absent protein, defective ciliogenesis, and Joubert syndrome.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CSPP1.
Dominant Negative (DN)
No dominant-negative mutations have been described for CSPP1; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ciliogenesis (primary cilium assembly)
• Centrosome cycle and spindle formation
Protein Summary
CSPP1 is a 1,074-amino-acid protein that localizes to the centrosome and spindle poles. It contains coiled-coil domains and is involved in microtubule organization and ciliogenesis. The protein interacts with other centrosomal and ciliary proteins (e.g., CEP290, CC2D2A) to facilitate primary cilium formation. Loss of CSPP1 leads to impaired ciliary signaling, contributing to Joubert syndrome and related ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSPP1 Knockout HEK293 Cell Line | EDJ-KQ2222 | Human | 79848 | Details Get a Quote |
| CSPP1 Knockout A-549 Cell Line | EDJ-KQ22497 | Human | 79848 | Details Get a Quote |
| CSPP1 Knockout HCT 116 Cell Line | EDJ-KQ22498 | Human | 79848 | Details Get a Quote |
| CSPP1 Knockout HeLa Cell Line | EDJ-KQ22499 | Human | 79848 | Details Get a Quote |
