HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CSTPP1
centriolar satellite-associated tubulin polyglutamylase complex regulator 1
Chromosome 11 Β· 11p11.2
NCBI Gene: 79096Ensembl: ENSG00000149179.15HGNC: HGNC:28720UniProt: B4DUV7
55PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein-macromolecule adaptor activitymicrotubule cytoskeleton organizationregulation of protein complex stabilitythrombophiliaIncreased blood pressuredeep vein thrombosishypertension
✦AI Summary

Based on limited published evidence, CSTPP1 is a regulator of the tubulin polyglutamylase complex (TPGC) that controls cytoskeletal organization, nuclear shape, and cilium disassembly by balancing microtubule and actin assembly 1. CSTPP1 regulates TPGC assembly and stability, modulating microtubule polyglutamylation to antagonize MAP4 binding 1. The protein localizes to centriolar satellites and functions in microtubule cytoskeleton organization through protein-macromolecule adaptor activity. Recent evidence suggests CSTPP1 expression is elevated in high-motility human sperm and may serve as a fertility biomarker 2.

Sources cited
1
CSTPP1 regulates the tubulin polyglutamylase complex, controlling cytoskeletal organization, nuclear shape, and cilium disassembly; modulates microtubule polyglutamylation to antagonize MAP4 binding
PMID: 34782749
2
CSTPP1 is downregulated in low-motility sperm and elevated in high-motility sperm; proposed as a potential fertility biomarker
PMID: 40168948
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
thrombophiliaOpen Targets
0.40Weak
Increased blood pressureOpen Targets
0.39Weak
deep vein thrombosisOpen Targets
0.39Weak
hypertensionOpen Targets
0.34Weak
venous thromboembolismOpen Targets
0.34Weak
cardiomyopathyOpen Targets
0.30Weak
chronic kidney diseaseOpen Targets
0.28Weak
hypertrophic cardiomyopathyOpen Targets
0.27Weak
goutOpen Targets
0.27Weak
ThromboembolismOpen Targets
0.26Weak
heart failureOpen Targets
0.22Weak
heart diseaseOpen Targets
0.19Weak
gestational diabetesOpen Targets
0.18Weak
bone fractureOpen Targets
0.17Weak
pulmonary embolismOpen Targets
0.13Weak
Pulmonary InfarctionOpen Targets
0.13Weak
cardiovascular diseaseOpen Targets
0.11Weak
major depressive disorderOpen Targets
0.11Weak
risk-taking behaviourOpen Targets
0.08Suggestive
Abnormality of the skeletal systemOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
TOGARAM2Shared pathway50%TTLL9Shared pathway50%CALML6Shared pathway50%EFCAB11Shared pathway50%TTLL2Shared pathway50%CCDC170Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Ovary
63%
Bone Marrow
48%
Heart
47%
Lung
43%
Liver
20%
Gene Interaction Network
Click a node to explore
CSTPP1TOGARAM2TTLL9CALML6EFCAB11TTLL2CCDC170
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9H6J7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.00LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.75 [0.56–1.00]
RankingsWhere CSTPP1 stands among ~20K protein-coding genes
  • #8,187of 20,598
    Most Researched55
  • #9,614of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedCSTPP1
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Integrative Molecular and Functional Analysis of Human Sperm Subpopulations to Identify New Biomarkers of Fertilization Potential.
PMID: 40168948
Arch Med Res Β· 2025
1.00