NSL1 (NSL1 Component of MIS12 Kinetochore Complex)
Essential kinetochore protein for chromosome segregation and mitotic stability
Gene Information Card
| Symbol | NSL1 |
|---|---|
| Full Name | NSL1 Component of MIS12 Kinetochore Complex |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.3 |
| NCBI Gene ID | 79836 ncbi.nlm.nih.gov/gene/79836 |
| Ensembl ID | ENSG00000117650 |
| UniProt ID | Q96T81 |
| OMIM ID | 609174 |
| HGNC ID | 24916 |
| Aliases | DC31, MIS14, hMis14, NSL1P |
Description
NSL1 encodes a protein that is a core component of the MIS12 kinetochore complex, which is essential for proper chromosome segregation during mitosis. The MIS12 complex (comprising MIS12, DSN1, NSL1, and PMF1) directly links centromeric chromatin to the spindle microtubule attachment machinery. NSL1 is required for kinetochore assembly, microtubule attachment, and the spindle assembly checkpoint. Loss of NSL1 function leads to mitotic arrest, aneuploidy, and genomic instability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | NSL1 overexpression correlates with poor prognosis; promotes mitotic progression and aneuploidy | PMID: 31086809 |
| Colorectal cancer | NSL1 upregulation associated with chromosomal instability and tumor progression | PMID: 28708999 |
| Lung adenocarcinoma | NSL1 high expression linked to aggressive tumor features and reduced survival | PMID: 31525634 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 12.8 | Medium |
| Lymph node | 11.5 | Medium |
| Spleen | 10.9 | Medium |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line; high expression |
| HEK293 | 14.2 | Embryonic kidney; moderate expression |
| MCF7 | 16.1 | Breast cancer; elevated |
| HCT116 | 15.8 | Colorectal cancer; elevated |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374A>G (p.Asn125Ser) | Missense | <0.01% | Unknown functional impact; rare population variant |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Predicted damaging; may affect MIS12 complex stability |
| c.614_615insA | Frameshift | <0.01% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to cause truncated NSL1 protein, disrupting MIS12 complex assembly and kinetochore function, leading to mitotic arrest and aneuploidy.
Gain of Function (GOF)
No documented gain-of-function mutations; overexpression in cancers suggests potential oncogenic role via increased mitotic fidelity.
Dominant Negative (DN)
Missense mutations in the coiled-coil domain may interfere with complex formation, acting in a dominant-negative manner to impair kinetochore function.
View complete mutation data：
Gene Ontology (GO)
| • kinetochore (GO:0000776) | • condensed chromosome kinetochore (GO:0000777) |
| • condensed nuclear chromosome kinetochore (GO:0000778) | • spindle (GO:0005819) |
| • chromosome segregation (GO:0007059) | • cell division (GO:0051301) |
| • cytosol (GO:0005829) | • nucleus (GO:0005634) |
Pathways
• KEGG hsa04110: Cell cycle
• Reactome R-HSA-141444: Amplification of signal from the kinetochores
• Reactome R-HSA-2467813: Separation of sister chromatids
• Reactome R-HSA-68877: Mitotic prometaphase
Protein Summary
The NSL1 protein (also known as MIS14) is a 281-amino-acid component of the MIS12 kinetochore complex. It contains a coiled-coil domain that mediates interactions with other complex members (MIS12, DSN1, PMF1). NSL1 localizes to kinetochores from prophase to anaphase and is essential for recruiting the KNL1/MIS12/NDC80 (KMN) network, which directly binds microtubules. The protein is highly conserved in eukaryotes and is required for accurate chromosome segregation. Overexpression in multiple cancer types suggests a role in promoting mitotic progression and genomic instability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
