KNSTRN (Kinastrin)
A key regulator of mitotic spindle assembly and chromosome segregation
Gene Information Card
| Symbol | KNSTRN |
|---|---|
| Full Name | kinastrin |
| Gene Type | protein-coding |
| Chromosomal Location | 15q15.1 |
| NCBI Gene ID | 90417 ncbi.nlm.nih.gov/gene/90417 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9Y448 |
| OMIM ID | 614718 |
| HGNC ID | 30738 |
| Aliases | FLJ20291, SKAP, TRAF4AF1 |
Description
KNSTRN (kinastrin) encodes a protein that localizes to the kinetochore and is essential for proper mitotic spindle assembly and chromosome segregation. It interacts with the spindle assembly checkpoint and is involved in the attachment of microtubules to kinetochores. Mutations in KNSTRN have been identified in various cancers, particularly in skin squamous cell carcinoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Squamous cell carcinoma (skin) | Recurrent hotspot mutations (p.Gln49Pro, p.Arg50Ser) disrupt kinetochore-microtubule attachment, leading to aneuploidy and tumorigenesis. | COSMIC, ClinVar |
| Colorectal cancer | Somatic mutations and copy number alterations observed; functional impact under investigation. | COSMIC |
| Breast cancer | Overexpression and amplification reported; may contribute to chromosomal instability. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 12.8 | Medium |
| Lymph node | 11.5 | Medium |
| Skin | 8.3 | Low |
| Colon | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| A549 | 14.2 | Lung cancer cell line |
| MCF7 | 10.1 | Breast cancer cell line |
| HCT116 | 9.8 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.146A>C (p.Gln49Pro) | Missense | Recurrent in skin SCC | Gain-of-function; promotes aneuploidy |
| c.150A>T (p.Arg50Ser) | Missense | Recurrent in skin SCC | Gain-of-function; disrupts kinetochore-microtubule attachment |
| c.148C>T (p.Arg50Cys) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; complete loss likely lethal due to essential mitotic role.
Gain of Function (GOF)
Recurrent hotspot mutations p.Gln49Pro and p.Arg50Ser are gain-of-function, driving chromosomal instability and tumorigenesis.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • chromosome, centromeric region (GO:0000775) | • kinetochore (GO:0000776) |
| • condensed chromosome kinetochore (GO:0000777) | • chromosome segregation (GO:0007059) |
| • cell division (GO:0051301) | • spindle (GO:0005819) |
Pathways
• Cell Cycle
• Mitotic (Reactome: R-HSA-69278)
• Mitotic Prometaphase (Reactome: R-HSA-68877)
• Resolution of Sister Chromatid Cohesion (Reactome: R-HSA-2500257)
Protein Summary
The KNSTRN protein, also known as kinastrin, is a 250-amino-acid protein that localizes to the kinetochore during mitosis. It contains a coiled-coil domain and interacts with the spindle assembly checkpoint proteins. It is essential for stable microtubule attachment and proper chromosome segregation. Mutations in the N-terminal region are recurrent in skin squamous cell carcinoma and act as oncogenic drivers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KNSTRN Knockout HEK293 Cell Line | EDJ-KQ3313 | Human | 90417 | Details Get a Quote |
| KNSTRN Knockout A-549 Cell Line | EDJ-KQ24912 | Human | 90417 | Details Get a Quote |
| KNSTRN Knockout HCT 116 Cell Line | EDJ-KQ24913 | Human | 90417 | Details Get a Quote |
| KNSTRN Knockout HeLa Cell Line | EDJ-KQ24914 | Human | 90417 | Details Get a Quote |
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