SKA3: Spindle and Kinetochore Associated Complex Subunit 3
A key regulator of mitotic chromosome segregation and cell cycle progression
Gene Information Card
| Symbol | SKA3 |
|---|---|
| Full Name | Spindle and Kinetochore Associated Complex Subunit 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q12.11 |
| NCBI Gene ID | 221150 ncbi.nlm.nih.gov/gene/221150 |
| Ensembl ID | ENSG00000165480 |
| UniProt ID | Q8IX90 |
| OMIM ID | 617777 |
| HGNC ID | 20262 |
| Aliases | C13orf3, RAMA1, hSKA3 |
Description
SKA3 encodes a component of the spindle and kinetochore-associated (SKA) complex, which is essential for proper microtubule attachment to kinetochores during mitosis. The SKA complex stabilizes kinetochore-microtubule interactions and is required for chromosome alignment and segregation. SKA3 is widely expressed and its dysregulation is implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of SKA3 promotes cell proliferation and migration via enhanced mitotic stability | COSMIC, literature |
| Colorectal cancer | Upregulation correlates with poor prognosis and increased tumor growth | COSMIC, literature |
| Lung cancer | SKA3 amplification drives aneuploidy and tumor progression | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.4 | Cervical cancer cell line |
| A549 | 14.7 | Lung cancer cell line |
| MCF7 | 12.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | 0.02% | Unknown functional impact |
| c.632A>G (p.Asn211Ser) | Missense | 0.01% | Reported in COSMIC |
| c.100_101insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, impairing kinetochore binding.
Gain of Function (GOF)
Missense mutations in the coiled-coil domain may enhance complex stability, linked to oncogenic signaling.
Dominant Negative (DN)
Not well characterized; some missense variants may disrupt SKA complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • mitotic spindle attachment to kinetochore | • chromosome segregation |
| • kinetochore binding | • microtubule binding |
| • cell cycle |
Pathways
• Cell Cycle
• Mitotic
• Kinetochore-Microtubule Interactions
• SKA Complex Pathway
Protein Summary
SKA3 is a 42 kDa protein that forms a heterotrimeric complex with SKA1 and SKA2. It localizes to kinetochores during mitosis and is critical for stabilizing end-on microtubule attachments. The protein contains a coiled-coil domain mediating complex assembly and a C-terminal region involved in microtubule binding.
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