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CSPP1
centrosome and spindle pole associated protein 1
The *CSPP1* gene provides instructions for producing centrosome and spindle pole associated protein 1, a key component involved in cell division and the proper formation of cilia. The *CSPP1* gene plays a vital role in cellular processes, specifically in regulating the cell cycle and the development of cilia, which are microscopic, hair-like structures found on cells.
CSPP1 is located on the long (q) arm of chromosome 8, at band 8q13.1-q13.2. Arm ratio per GRCh38 - banding schematic.
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Overview
The *CSPP1* gene, short for centrosome and spindle pole associated protein 1, is instrumental in various cellular activities, including cell division and the formation of cilia. Cilia are crucial for many biological processes, acting as sensory antennae or facilitating fluid movement across cell surfaces. Dysfunctions related to *CSPP1* are often linked to a group of genetic disorders known as ciliopathies, which affect various organ systems.
What the gene does
The protein encoded by the *CSPP1* gene, centrosome and spindle pole associated protein 1, is integral to the organisation and function of centrosomes and spindle poles. Centrosomes are primary microtubule-organising centres in animal cells, essential for proper cell division and the formation of the mitotic spindle. CSPP1 helps regulate microtubule dynamics, which are critical for accurate chromosome segregation during mitosis and for the assembly and maintenance of cilia. The protein participates in ciliary biogenesis and stability, ensuring that cilia can perform their roles in signalling and motility. It has been observed to localise to centrosomes and midbodies, structures pivotal for cell cycle progression and cytokinesis.
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Chromosome location
The *CSPP1* gene is situated on chromosome 8, specifically within the long (q) arm at position 13.1-13.2. This genomic location designates the precise address of the gene within the human genome. The gene's position across this region contributes to its regulatory context and potential interactions with neighbouring genetic elements.
Protein structure
The CSPP1 protein, comprising 1256 amino acids, features a complex domain architecture. It includes several Coiled coil domains, located at amino acids 38-62, 114-135, 244-270, 417-449, 625-669, and 925-964. Interspersed among these are multiple Disordered regions, found at amino acids 189-244, 381-403, 735-757, 813-853, 913-932, 1114-1147, and 1232-1256. These various domains and regions contribute to the protein's flexibility and its ability to interact with other molecules, which is essential for its diverse cellular functions.
Key variants
Genetic variations within the *CSPP1* gene can range from single nucleotide changes to larger deletions or duplications. Pathogenic variants are identified as those that disrupt the normal function of the centrosome and spindle pole associated protein 1. The consequence of a variant often depends on its specific location and type, potentially affecting protein stability, folding, or interactions with other cellular components, leading to altered cellular processes.
Sample of pathogenic variants
10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.1187+1G>A | - | Pathogenic/Likely pathogenic | ★★☆☆ | Joubert syndrome 21 |
c.1187G>A | p.Arg396Gln | Pathogenic | ★★☆☆ | Joubert syndrome 21 |
c.132dup | p.Lys45Ter | Pathogenic | ★★☆☆ | Joubert syndrome 21 |
c.1787_1790del | p.Lys596fs | Pathogenic/Likely pathogenic | ★★☆☆ | CSPP1-related disorder |
c.2257_2260del | p.Gln753fs | Pathogenic/Likely pathogenic | ★★☆☆ | CSPP1-related disorder |
c.2379_2380del | p.Lys794fs | Pathogenic | ★★☆☆ | Joubert syndrome 21 |
c.2521_2524del | p.Ile841fs | Pathogenic | ★★☆☆ | Joubert syndrome 21 |
c.264del | p.Glu89fs | Pathogenic | ★★☆☆ | Joubert syndrome 21 |
c.2741C>G | p.Ser914Ter | Pathogenic/Likely pathogenic | ★★☆☆ | CSPP1-related disorder |
c.2899C>T | p.Gln967Ter | Pathogenic/Likely pathogenic | ★★☆☆ | CSPP1-related disorder |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Mutations in the *CSPP1* gene are associated with a spectrum of conditions known as ciliopathies. These disorders arise from defects in the structure or function of cilia, which are crucial for the development and proper operation of many organs. Such conditions can manifest with a variety of symptoms affecting systems such as the kidneys, retina, brain, and skeleton, reflecting the widespread importance of cilia throughout the body.
No disease links recorded for this gene in our reference set.
UK clinical status
The *CSPP1* gene is recognised within several expert-curated panels in the UK's National Health Service (NHS) Genomic Medicine Service. It is listed as 'green' in DDG2P for intellectual disability, foetal anomalies (R21), neurological ciliopathies, ophthalmological ciliopathies, rare multisystem ciliopathy disorders, renal ciliopathies, retinal disorders (R32), skeletal ciliopathies, skeletal dysplasia (R104), and thoracic dystrophies, indicating strong evidence for its association with these conditions.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What is a ciliopathy?
A ciliopathy is a genetic disorder caused by mutations in genes that encode proteins essential for the structure or function of cilia, which are small, hair-like structures on the surface of cells. These disorders can affect multiple organ systems, leading to a wide range of symptoms.
How does the *CSPP1* gene influence cell division?
The *CSPP1* gene encodes a protein that is crucial for the proper organisation of centrosomes and spindle poles, which are vital components for accurate chromosome separation during cell division. It helps regulate microtubule dynamics, ensuring cell division proceeds correctly.
Can *CSPP1* gene variants affect different parts of the body?
Yes, because cilia are found on most cell types and play diverse roles in development and bodily functions, variants in the *CSPP1* gene can lead to a wide array of symptoms affecting multiple organs, including kidneys, eyes, brain, and bones, as seen in various ciliopathies.