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GeneE
4 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.
TBCCD1
TBCC domain containing 1
Chromosome 3 Β· 3q27.3
NCBI Gene: 55171Ensembl: ENSG00000113838.14HGNC: HGNC:25546UniProt: Q9NVR7
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingregulation of cell shaperegulation of cell migrationmaintenance of centrosome locationFemale infertility due to fertilization defectazoospermiafemale infertility due to oocyte meiotic arrestoocyte maturation defect 14
✦AI Summary

TBCCD1 is a centrosomal protein that serves as a key regulator of centrosome and Golgi apparatus positioning, with important consequences for cell organization and function. TBCCD1 localizes to the centrosome, spindle midzone, midbody, and basal bodies of cilia 1. Mechanistically, TBCCD1 maintains the spatial relationship between the centrosome and nucleus, and coordinates Golgi apparatus organization through modulation of microtubule cytoskeleton dynamics 12. Loss of TBCCD1 causes centrosome-nucleus dissociation, Golgi disorganization, increased cell size, reduced primary cilia assembly efficiency, and impaired cell migration in wound-healing assays 1. Notably, TBCCD1 depletion does not affect the major microtubule-nucleating capacity of the centrosome itself 1. TBCCD1's role in centrosome positioning is evolutionarily conserved, with orthologs maintaining centriole linkage in algae and nucleus-centrosome-Golgi linkage in mammalian cells 2. Clinically, gain-of-function alterations in TBCCD1 have been identified as candidates associated with centrosome amplification in human cancers 3, suggesting potential involvement in cancer progression. The protein's function extends to parasitic interactions, where modulation of TBCCD1 levels affects pathogen replication capacity 4.

Sources cited
1
TBCCD1 localizes to centrosome, spindle midzone, midbody, and basal bodies; knockdown causes centrosome-nucleus dissociation, Golgi disorganization, increased cell size, reduced cilia assembly, and slower migration
PMID: 20168327
2
TBCCD1 is required for centriole linkage and nucleus-centrosome-Golgi linkage; evolutionarily conserved function in cytoskeletal organization across eukaryotes
PMID: 24101722
3
TBCCD1 is involved in centrosome positioning and Golgi apparatus integrity; modulation affects parasite replication and Golgi reorganization
PMID: 24892307
4
Gain-of-function alterations in TBCCD1 are candidates for causing centrosome amplification in human cancer
PMID: 32681070
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Female infertility due to fertilization defectOpen Targets
0.06Suggestive
azoospermiaOpen Targets
0.06Suggestive
female infertility due to oocyte meiotic arrestOpen Targets
0.05Suggestive
oocyte maturation defect 14Open Targets
0.05Suggestive
oocyte maturation defect 5Open Targets
0.05Suggestive
Hydatidiform MoleOpen Targets
0.05Suggestive
oocyte maturation defect 9Open Targets
0.05Suggestive
partial chromosome Y deletionOpen Targets
0.05Suggestive
oocyte maturation defect 13Open Targets
0.05Suggestive
oocyte/zygote/embryo maturation arrest 21Open Targets
0.05Suggestive
oocyte maturation defect 12Open Targets
0.04Suggestive
premature ovarian failure 19Open Targets
0.04Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.04Suggestive
spermatogenic failure 61Open Targets
0.04Suggestive
spermatogenic failure 62Open Targets
0.04Suggestive
spermatogenic failure 88Open Targets
0.04Suggestive
spermatogenic failure 59Open Targets
0.04Suggestive
spermatogenic failure 60Open Targets
0.04Suggestive
spermatogenic failure 73Open Targets
0.04Suggestive
spermatogenic failure 74Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PPP2R3BProtein interaction80%SHQ1Protein interaction77%PALM2AKAP2Shared pathway50%PALMDShared pathway50%TMSB10Shared pathway33%TMSB15AShared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
68%
Heart
67%
Ovary
65%
Brain
59%
Lung
56%
Gene Interaction Network
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TBCCD1PPP2R3BSHQ1PALM2AKAP2PALMDTMSB10TMSB15A
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9NVR7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.67LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.48 [0.35–0.67]
RankingsWhere TBCCD1 stands among ~20K protein-coding genes
  • #14,565of 20,598
    Most Researched19
  • #4,893of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedTBCCD1
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Besnoitia besnoiti and Toxoplasma gondii: two apicomplexan strategies to manipulate the host cell centrosome and Golgi apparatus.
PMID: 24892307
Parasitology Β· 2014
1.00
2
The tubulin cofactor C family member TBCCD1 orchestrates cytoskeletal filament formation.
PMID: 24101722
J Cell Sci Β· 2013
0.75
3
TBCCD1, a new centrosomal protein, is required for centrosome and Golgi apparatus positioning.
PMID: 20168327
EMBO Rep Β· 2010
0.50
4
Analysis of the "centrosome-ome" identifies MCPH1 deletion as a cause of centrosome amplification in human cancer.
PMID: 32681070
Sci Rep Β· 2020
0.25