DSN1 Component of MIS12 Kinetochore Complex
Essential kinetochore protein involved in chromosome segregation and cell division
Gene Information Card
| Symbol | DSN1 |
|---|---|
| Full Name | DSN1 component of MIS12 kinetochore complex |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.23 |
| NCBI Gene ID | 29980 ncbi.nlm.nih.gov/gene/29980 |
| Ensembl ID | ENSG00000149636 |
| UniProt ID | Q9H410 |
| OMIM ID | 617019 |
| HGNC ID | 25212 |
| Aliases | C20orf172, DSN1L, hDSN1, MIS12 subunit DSN1 |
Description
DSN1 is a protein-coding gene that encodes a component of the MIS12 kinetochore complex, which is essential for proper chromosome segregation during mitosis. The MIS12 complex is part of the KMN network that links centromeres to spindle microtubules. DSN1 is required for kinetochore assembly and checkpoint signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | DSN1 overexpression may promote aneuploidy and tumor progression | PMID: 23431137 |
| Colorectal cancer | Altered DSN1 expression linked to chromosomal instability | PMID: 25691885 |
| Lung cancer | DSN1 upregulation associated with poor prognosis | PMID: 29367642 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 12.8 | Medium |
| Lymph node | 10.5 | Medium |
| Brain | 4.3 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| HEK293 | 14.2 | Embryonic kidney cells |
| MCF7 | 12.1 | Breast cancer cell line |
| A549 | 11.3 | Lung 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 | <0.01% | Unknown functional impact |
| c.632A>G (p.Asn211Ser) | Missense | <0.01% | Reported in COSMIC |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Rare start-loss and nonsense mutations predicted to disrupt DSN1 protein expression or function.
Gain of Function (GOF)
Not well characterized; overexpression in tumors may act as a gain-of-function by promoting mitotic errors.
Dominant Negative (DN)
No dominant-negative mutations reported in DSN1.
View complete mutation data：
Gene Ontology (GO)
| • kinetochore assembly | • chromosome segregation |
| • mitotic cell cycle | • microtubule binding |
| • MIS12 complex |
Pathways
• Cell cycle (KEGG:04110)
• MIS12 complex (Reactome: R-HSA-141444)
Protein Summary
DSN1 is a 356-amino-acid protein that localizes to kinetochores during mitosis. It interacts with other MIS12 complex subunits (MIS12, NSL1, PMF1) to form a platform for recruiting the KNL1 and NDC80 complexes. DSN1 is essential for proper kinetochore-microtubule attachment and the spindle assembly checkpoint.
Related Services
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|---|---|---|---|---|
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