TUBGCP5
Tubulin Gamma Complex Component 5
Gene Information Card
| Symbol | TUBGCP5 |
|---|---|
| Full Name | Tubulin Gamma Complex Component 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q11.2 |
| NCBI Gene ID | 114791 ncbi.nlm.nih.gov/gene/114791 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q96RT8 |
| OMIM ID | 608147 |
| HGNC ID | 18596 |
| Aliases | GCP5, KIAA1899 |
Description
TUBGCP5 encodes a component of the gamma-tubulin ring complex (γ-TuRC), which is essential for microtubule nucleation at the centrosome. The protein localizes to the centrosome and interacts with other γ-TuRC subunits to facilitate microtubule organization and cell division.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly | Disruption of centrosome function impairs neurogenesis | PMID: 25446530 |
| Primary microcephaly | Loss-of-function variants in TUBGCP5 reduce microtubule nucleation | ClinVar: RCV000169781 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Medium |
| Ovary | 6.2 | Low |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | High expression |
| HeLa | 8.9 | Moderate expression |
| K562 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations lead to truncated protein and loss of γ-TuRC function.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • zinc ion binding (GO:0008270) |
| • microtubule nucleation (GO:0007020) | • microtubule organizing center (GO:0005815) |
Pathways
• Microtubule nucleation (Reactome: R-HSA-380259)
• Centrosome maturation (Reactome: R-HSA-380270)
Protein Summary
TUBGCP5 is a 102 kDa protein that localizes to the centrosome and is a core component of the γ-tubulin ring complex. It contains a GCP5 domain and is involved in microtubule nucleation and organization. The protein interacts with other γ-TuRC subunits such as TUBGCP2, TUBGCP3, and TUBGCP4.
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