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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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CSPP1
centrosome and spindle pole associated protein 1
Chromosome 8 Β· 8q13.1-q13.2
NCBI Gene: 79848Ensembl: ENSG00000104218.16HGNC: HGNC:26193UniProt: A0A6Q8PF96
53PubMed Papers
21Diseases
0Drugs
117Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingidentical protein bindingpositive regulation of cytokinesispositive regulation of cell divisionJoubert syndrome 21Joubert syndromeMeckel syndromeJoubert syndrome with Jeune asphyxiating thoracic dystrophy
✦AI Summary

CSPP1 (centrosome and spindle pole associated protein 1) is a microtubule-stabilizing protein with primary roles in ciliary and centrosomal function. Mechanistically, CSPP1 stabilizes microtubules by binding to polymerizing microtubule ends and depositing within the microtubule lumen, where it inhibits both growth and shortening through distinct molecular domains 1. CSPP1 additionally caps and stabilizes both plus and minus ends of static microtubules by suppressing catastrophe and restricting polymerization 2. The protein specifically recognizes and stabilizes damaged microtubule lattices 1, supporting the elongation and stability of ciliary axonemes and other microtubule-based structures. Disease relevance centers on Joubert syndrome 21, a neurodevelopmental ciliopathy characterized by hindbrain malformation and multi-systemic involvement including ocular and renal pathologies 3. CSPP1 functions within a ciliary protein module with ARMC9 and TOGARAM1; dysfunction of this module causes short cilia with decreased axonemal modifications and aberrant ciliary stability 4. Clinic significance extends beyond ciliopathies: circular RNA derived from CSPP1 (circ-CSPP1) regulates cancer progression in hepatocellular carcinoma, non-small cell lung cancer, and glioma through competing endogenous RNA mechanisms 567. Nuclear CSPP1 isoforms identify distinct breast cancer subtypes with prognostic implications 8.

Sources cited
1
CSPP1 stabilizes microtubule ends and damaged lattices by binding within the lumen and inhibiting growth/shortening
PMID: 36752787
2
CSPP1 caps both plus and minus ends of static microtubules, suppressing catastrophe and restricting polymerization
PMID: 38389254
3
CSPP1 functions in a ciliary protein module with ARMC9 and TOGARAM1; dysfunction causes short cilia with reduced axonemal modifications
PMID: 32453716
4
CSPP1 variants cause Joubert syndrome with multi-systemic involvement including ocular and renal pathologies
PMID: 36580738
5
Circular CSPP1 RNA promotes hepatocellular carcinoma through miR-493-5p/HMGB1 axis
PMID: 34182091
6
Circular CSPP1 promotes non-small cell lung cancer via miR-486-3p/BRD9 axis
PMID: 35678942
7
Circular CSPP1 promotes glioma cell proliferation, invasion, and migration
PMID: 32495924
8
Nuclear CSPP1 isoforms identify distinct breast cancer subtypes with prognostic significance
PMID: 24901235
Disease Associationsβ“˜21
Joubert syndrome 21Open Targets
0.78Strong
Joubert syndromeOpen Targets
0.70Strong
Meckel syndromeOpen Targets
0.70Strong
Joubert syndrome with Jeune asphyxiating thoracic dystrophyOpen Targets
0.60Moderate
genetic disorderOpen Targets
0.51Moderate
Dandy-Walker syndromeOpen Targets
0.34Weak
acute tonsillitisOpen Targets
0.28Weak
placenta praeviaOpen Targets
0.22Weak
neurodegenerative diseaseOpen Targets
0.18Weak
Retinal dystrophyOpen Targets
0.17Weak
brain aneurysmOpen Targets
0.12Weak
microcephalyOpen Targets
0.11Weak
optic atrophyOpen Targets
0.11Weak
cancerOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
carcinomaOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
Griscelli diseaseOpen Targets
0.05Suggestive
Joubert syndrome 21UniProt
Pathogenic Variants117
NM_001382391.1(CSPP1):c.1850_1860del (p.Arg617fs)Pathogenic
not provided|Joubert syndrome 21
β˜…β˜…β˜†β˜†2026β†’ Residue 617
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter)Pathogenic
Joubert syndrome 21|not provided|CSPP1-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 779
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)Pathogenic
Joubert syndrome 21|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 755
NM_001382391.1(CSPP1):c.43A>T (p.Arg15Ter)Pathogenic
CSPP1-related disorder|Joubert syndrome 21
β˜…β˜…β˜†β˜†2025β†’ Residue 15
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter)Pathogenic
Joubert syndrome 21|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 740
NM_001382391.1(CSPP1):c.2379_2380del (p.Lys794fs)Pathogenic
Joubert syndrome 21|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 794
NM_001382391.1(CSPP1):c.2521_2524del (p.Ile841fs)Pathogenic
Joubert syndrome 21
β˜…β˜…β˜†β˜†2025β†’ Residue 841
NM_001382391.1(CSPP1):c.923+1G>CPathogenic
Joubert syndrome 21|not provided
β˜…β˜…β˜†β˜†2025
NM_001382391.1(CSPP1):c.2723del (p.Asn908fs)Pathogenic
Joubert syndrome 21|not provided|CSPP1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 908
NM_001382391.1(CSPP1):c.3330+1G>CLikely pathogenic
Joubert syndrome 21|not provided
β˜…β˜…β˜†β˜†2025
NM_001382391.1(CSPP1):c.264del (p.Glu89fs)Pathogenic
Joubert syndrome 21|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 89
NM_001382391.1(CSPP1):c.1187G>A (p.Arg396Gln)Pathogenic
Joubert syndrome 21|Inborn genetic diseases|Uveal melanoma
β˜…β˜…β˜†β˜†2025β†’ Residue 396
NM_001382391.1(CSPP1):c.1697+1G>TPathogenic
Joubert syndrome 21|not provided
β˜…β˜…β˜†β˜†2025
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs)Pathogenic
Joubert syndrome 21|Meckel-Gruber syndrome|not provided|CSPP1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 755
NM_001382391.1(CSPP1):c.2968+1G>TPathogenic
Joubert syndrome 21
β˜…β˜…β˜†β˜†2025
NM_001382391.1(CSPP1):c.132dup (p.Lys45Ter)Pathogenic
Joubert syndrome 21|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 45
NM_001382391.1(CSPP1):c.818dup (p.Tyr273Ter)Pathogenic
Joubert syndrome 21|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 273
NM_001382391.1(CSPP1):c.-69C>TPathogenic
Joubert syndrome 21|Meckel-Gruber syndrome;Joubert syndrome
β˜…β˜…β˜†β˜†2024
NM_001382391.1(CSPP1):c.2456_2459del (p.Lys819fs)Pathogenic
Joubert syndrome 21|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 819
NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter)Pathogenic
not provided|Joubert syndrome 21
β˜…β˜…β˜†β˜†2024β†’ Residue 385
View on ClinVar β†—
Related Genes
FAM110BProtein interaction95%FAM110AProtein interaction95%FAM110CProtein interaction94%CCDC14Protein interaction76%PCM1Protein interaction76%DCTN2Protein interaction72%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
63%
Liver
60%
Lung
59%
Heart
45%
Brain
30%
Gene Interaction Network
Click a node to explore
CSPP1FAM110BFAM110AFAM110CCCDC14PCM1DCTN2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q1MSJ5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.88LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.67 [0.52–0.88]
RankingsWhere CSPP1 stands among ~20K protein-coding genes
  • #8,415of 20,598
    Most Researched53
  • #667of 5,498
    Most Pathogenic Variants117 Β· top quartile
  • #7,764of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedCSPP1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301500
1.00
2
CSPP1 stabilizes growing microtubule ends and damaged lattices from the luminal side.
PMID: 36752787
J Cell Biol Β· 2023
0.90
3
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.
PMID: 32453716
J Clin Invest Β· 2020
0.80
4
Circ-CSPP1 knockdown suppresses hepatocellular carcinoma progression through miR-493-5p releasing-mediated HMGB1 downregulation.
PMID: 34182091
Cell Signal Β· 2021
0.70
5
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
PMID: 36580738
Clin Neurol Neurosurg Β· 2023
0.60