ZW10 Gene: Centromere/Kinetochore Protein
Essential component of the RZZ complex involved in mitotic checkpoint signaling and chromosome segregation
Gene Information Card
| Symbol | ZW10 |
|---|---|
| Full Name | ZW10, kinetochore associated, homolog (Drosophila) |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.2 |
| NCBI Gene ID | 9183 ncbi.nlm.nih.gov/gene/9183 |
| Ensembl ID | ENSG00000149021 |
| UniProt ID | O43264 |
| OMIM ID | 603954 |
| HGNC ID | 13194 |
| Aliases | ZW10, KNTC1AP, ZW10 homolog |
Description
ZW10 encodes a protein that is a component of the RZZ complex (ROD, ZW10, ZWILCH), which is essential for proper kinetochore-microtubule attachment and activation of the spindle assembly checkpoint. The protein localizes to the kinetochore during mitosis and is required for accurate chromosome segregation. ZW10 also plays a role in vesicle trafficking and cytokinesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly, short stature, and impaired glucose metabolism | Biallelic loss-of-function mutations in ZW10 disrupt mitotic checkpoint, leading to microcephaly and growth defects | PMID: 29551561 |
| Colorectal cancer | ZW10 overexpression or mutation may contribute to chromosomal instability and tumor progression | PMID: 23431136 |
| Breast cancer | Altered ZW10 expression associated with aneuploidy and poor prognosis | PMID: 25605248 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Medium |
| Lymph node | 7.1 | Medium |
| Brain | 5.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression in cervical cancer cell line |
| HEK293 | 10.1 | Moderate expression |
| HCT116 | 9.5 | Moderate expression in colorectal cancer cell line |
| MCF7 | 7.8 | Moderate expression in breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.157C>T (p.Arg53*) | Nonsense | Rare | Loss of function; associated with microcephaly |
| c.1123G>A (p.Gly375Arg) | Missense | Rare | Impaired kinetochore localization |
| c.1846C>T (p.Arg616Trp) | Missense | Rare | Reduced RZZ complex stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, leading to loss of kinetochore localization and mitotic checkpoint failure.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may promote chromosomal instability.
Dominant Negative (DN)
Missense mutations that disrupt RZZ complex assembly without complete loss of protein.
View complete mutation data：
Gene Ontology (GO)
| • kinetochore (GO:0000776) | • condensed chromosome kinetochore (GO:0000777) |
| • centrosome (GO:0005813) | • spindle (GO:0005819) |
| • chromosome segregation (GO:0007059) | • spindle checkpoint (GO:0031577) |
| • cell division (GO:0051301) | • mitotic spindle assembly (GO:0090307) |
Pathways
• RZZ complex in mitotic checkpoint (Reactome: R-HSA-141444)
• Kinetochore assembly (Reactome: R-HSA-141430)
• Cell cycle
• mitotic (Reactome: R-HSA-69278)
Protein Summary
The ZW10 protein (918 amino acids, ~100 kDa) is a core component of the RZZ complex, which recruits dynein and other checkpoint proteins to the kinetochore. It contains a conserved N-terminal domain required for kinetochore localization and a C-terminal region involved in complex formation. ZW10 is essential for the spindle assembly checkpoint and accurate chromosome segregation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZW10 Knockout HEK293 Cell Line | EDJ-KQ6488 | Human | 9183 | Details Get a Quote |
| ZW10 Knockout A-549 Cell Line | EDJ-KQ30612 | Human | 9183 | Details Get a Quote |
| ZW10 Knockout HCT 116 Cell Line | EDJ-KQ30613 | Human | 9183 | Details Get a Quote |
| ZW10 Knockout HeLa Cell Line | EDJ-KQ30614 | Human | 9183 | Details Get a Quote |
