MZT1
Mitotic Spindle Organizing Protein 1
Gene Information Card
| Symbol | MZT1 |
|---|---|
| Full Name | Mitotic Spindle Organizing Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q34 |
| NCBI Gene ID | 79000 ncbi.nlm.nih.gov/gene/79000 |
| Ensembl ID | ENSG00000102978 |
| UniProt ID | Q08AG7 |
| OMIM ID | 615477 |
| HGNC ID | 26247 |
| Aliases | MOZART1, C13orf37, FAM128B |
Description
MZT1 (Mitotic Spindle Organizing Protein 1), also known as MOZART1, encodes a component of the gamma-tubulin ring complex (γ-TuRC) essential for microtubule nucleation at centrosomes and spindle assembly during mitosis. It stabilizes the γ-TuRC and is required for proper mitotic progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly | MZT1 mutations impair centrosome function and microtubule nucleation, leading to reduced brain size | PMID: 27545680 |
| Primary microcephaly (MCPH) | Loss-of-function variants disrupt mitotic spindle organization in neural progenitors | ClinVar: RCV000207193 |
| Cancer (various) | Altered MZT1 expression may affect genomic stability via defective spindle assembly | COSMIC: gene analysis |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Brain | 6.1 | Low |
| Lymph node | 5.4 | Low |
| Ovary | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Moderate expression |
| HeLa | 8.7 | Detectable |
| K562 | 7.1 | Low expression |
| HepG2 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.205C>T (p.Arg69Trp) | Missense | <0.01% | Impaired γ-TuRC binding |
| c.346G>A (p.Gly116Arg) | Missense | <0.01% | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
MZT1 loss-of-function mutations disrupt γ-TuRC assembly, impairing microtubule nucleation and causing mitotic defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Dominant-negative effects are not established; most pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • centrosome | • gamma-tubulin complex |
| • microtubule nucleation | • spindle pole |
| • mitotic cell cycle |
Pathways
• Gamma-tubulin ring complex assembly
• Microtubule nucleation
• Cell cycle
• mitotic
Protein Summary
MZT1 is a small protein (approx. 15 kDa) that localizes to centrosomes and the Golgi apparatus. It binds to the gamma-tubulin ring complex (γ-TuRC) via the GCP3 and GCP6 subunits, stabilizing the complex and promoting efficient microtubule nucleation. MZT1 is essential for mitotic spindle formation and chromosome segregation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MZT1 Knockout HEK293 Cell Line | EDJ-KQ52342 | Human | 440145 | Details Get a Quote |
| MZT1 Knockout HeLa Cell Line | EDJ-KQ60385 | Human | 440145 | Details Get a Quote |
| MZT1 Knockout A-549 Cell Line | EDJ-KQ68852 | Human | 440145 | Details Get a Quote |
| MZT1 Knockout HCT 116 Cell Line | EDJ-KQ77216 | Human | 440145 | Details Get a Quote |
