TUBG1 (Tubulin Gamma 1)
Key regulator of microtubule nucleation and centrosome function
Gene Information Card
| Symbol | TUBG1 |
|---|---|
| Full Name | Tubulin Gamma 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 7283 ncbi.nlm.nih.gov/gene/7283 |
| Ensembl ID | ENSG00000131462 |
| UniProt ID | P23258 |
| OMIM ID | 191135 |
| HGNC ID | 12417 |
| Aliases | CDCBM4, GCP-1, gamma-tubulin |
Description
TUBG1 encodes gamma-tubulin, a conserved member of the tubulin family that is essential for microtubule nucleation and organization. Gamma-tubulin localizes to the centrosome and forms the gamma-tubulin ring complex (gamma-TuRC), which templates microtubule growth. TUBG1 is critical for mitotic spindle assembly, cell division, and neuronal migration. Mutations in TUBG1 are associated with complex cortical malformations, including lissencephaly and microcephaly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lissencephaly 4 (LIS4) | Missense mutations impair microtubule nucleation and centrosome function, disrupting neuronal migration | OMIM #614061 |
| Microcephaly, cortical malformations | Dominant-negative or loss-of-function variants reduce gamma-tubulin activity, leading to mitotic defects and reduced brain size | ClinVar, multiple case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Brain | 15.2 | Medium |
| Lymph node | 12.1 | Medium |
| Bone marrow | 10.5 | Medium |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 35.6 | High expression |
| HEK 293 | 28.4 | High expression |
| SH-SY5Y | 22.1 | Medium expression |
| U2OS | 19.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.776G>A (p.Arg259His) | Missense | Rare | Dominant-negative; disrupts gamma-TuRC assembly |
| c.1070C>T (p.Thr357Met) | Missense | Rare | Loss of function; reduced microtubule nucleation |
| c.1244G>A (p.Arg415Gln) | Missense | Rare | Impaired centrosome localization |
Mutation functional classification
Loss of Function (LOF)
Heterozygous missense mutations that reduce gamma-tubulin stability or interaction with gamma-TuRC components, leading to decreased microtubule nucleation.
Gain of Function (GOF)
Not reported for TUBG1.
Dominant Negative (DN)
Mutations such as p.Arg259His interfere with wild-type gamma-tubulin function, disrupting gamma-TuRC assembly and centrosome integrity.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • microtubule (GO:0005874) |
| • microtubule nucleation (GO:0007020) | • microtubule cytoskeleton organization (GO:0000226) |
| • protein polymerization (GO:0051258) |
Pathways
• Microtubule nucleation (Reactome R-HSA-380259)
• Cell cycle
• mitotic (Reactome R-HSA-69278)
• Centrosome maturation (Reactome R-HSA-380270)
Protein Summary
Gamma-tubulin (TUBG1) is a 451-amino-acid protein that forms the core of the gamma-tubulin ring complex (gamma-TuRC). It localizes primarily to the centrosome, where it nucleates microtubule growth from the minus end. TUBG1 interacts with gamma-tubulin complex components (GCP2–GCP6) and is essential for mitotic spindle assembly and cell polarity. Structural studies show that gamma-tubulin adopts a fold similar to alpha/beta-tubulin but with distinct loops that mediate ring complex assembly.
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