TUBGCP3 Gene - Gamma-Tubulin Complex Component 3
Essential component of the gamma-tubulin ring complex (γ-TuRC) involved in microtubule nucleation and centrosome organization.
Gene Information Card
| Symbol | TUBGCP3 |
|---|---|
| Full Name | Gamma-tubulin complex component 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q34 |
| NCBI Gene ID | 10426 ncbi.nlm.nih.gov/gene/10426 |
| Ensembl ID | ENSG00000126216 |
| UniProt ID | Q96CW5 |
| OMIM ID | 608780 |
| HGNC ID | 18599 |
| Aliases | GCP3, GCP-3, Spc98, hSpc98, 103kDa |
Description
TUBGCP3 encodes a component of the gamma-tubulin ring complex (γ-TuRC), which is required for microtubule nucleation at the centrosome. The protein localizes to the centrosome and interacts with gamma-tubulin and other complex members to facilitate proper spindle assembly and cell division.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly | Loss-of-function mutations impair centrosome function and microtubule nucleation, leading to reduced neuronal progenitor proliferation. | ClinVar, OMIM |
| Primary autosomal recessive microcephaly 20 | Homozygous missense variants in TUBGCP3 disrupt γ-TuRC assembly. | OMIM #617631 |
| Breast cancer | Overexpression and amplification of TUBGCP3 correlate with centrosome amplification and aneuploidy. | COSMIC, NCBI |
| Colorectal cancer | Somatic mutations and copy number gains observed in tumor samples. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 22.3 | Medium |
| Bone marrow | 19.8 | Medium |
| Lymph node | 17.1 | Medium |
| Brain | 14.5 | Medium |
| Liver | 10.2 | Low |
| Heart | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 25.4 | Cervical cancer cell line; high expression |
| K562 | 22.1 | Leukemia cell line; moderate expression |
| A549 | 19.7 | Lung cancer cell line; moderate expression |
| MCF7 | 18.3 | Breast cancer cell line; moderate expression |
| HEK293 | 15.6 | Embryonic kidney cell line; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1550G>A (p.Arg517His) | Missense | <0.01% | Loss of γ-TuRC binding; associated with microcephaly |
| c.2023C>T (p.Arg675Trp) | Missense | <0.01% | Impaired centrosome localization; reported in microcephaly |
| c.1234_1235insA (p.Thr412Asnfs*2) | Frameshift | <0.01% | Truncation; loss of function |
| c.789G>C (p.Gln263His) | Missense | 0.02% | Unknown significance; observed in cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein lacking C-terminal domain required for complex assembly, resulting in impaired microtubule nucleation.
Gain of Function (GOF)
Not well documented; overexpression in cancer may contribute to centrosome amplification.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg517His) can disrupt γ-TuRC integrity, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • Microtubule nucleation | • Centrosome cycle |
| • Gamma-tubulin complex | • Spindle assembly |
| • Cell division |
Pathways
• Microtubule nucleation (Reactome: R-HSA-380259)
• Centrosome maturation (Reactome: R-HSA-380270)
• Cell cycle
• mitotic (Reactome: R-HSA-69278)
Protein Summary
TUBGCP3 (GCP3) is a 103 kDa component of the gamma-tubulin ring complex (γ-TuRC). It localizes to the centrosome and is essential for microtubule nucleation. The protein contains a conserved Grip domain that mediates interactions with gamma-tubulin and other GCP proteins. Defects in TUBGCP3 cause primary microcephaly, and its dysregulation is implicated in cancer.
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