KNTC1 (Kinetochore Associated 1)
Essential Component of the Mitotic Checkpoint Complex
Gene Information Card
| Symbol | KNTC1 |
|---|---|
| Full Name | Kinetochore Associated 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 9735 ncbi.nlm.nih.gov/gene/9735 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | P50748 |
| OMIM ID | 607363 |
| HGNC ID | 6343 |
| Aliases | ROD, ROD1, hRod, ZW10 interacting protein 1 |
Description
KNTC1 encodes a protein that is a component of the ROD-ZW10-Zwilch (RZZ) complex, which is essential for proper kinetochore-microtubule attachment and activation of the spindle assembly checkpoint (SAC). The protein localizes to kinetochores during mitosis and is required for chromosome alignment and segregation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered KNTC1 expression may disrupt mitotic checkpoint, leading to aneuploidy | COSMIC; TCGA |
| Colorectal cancer | Mutations in KNTC1 associated with chromosomal instability | COSMIC; literature |
| Lung cancer | Overexpression linked to poor prognosis and mitotic defects | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 18.2 | Medium |
| Lymph node | 15.0 | Medium |
| Brain | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.1 | Cervical cancer cell line |
| A549 | 18.7 | Lung cancer cell line |
| MCF7 | 15.4 | Breast cancer cell line |
| K562 | 12.8 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; predicted truncation |
| c.2567A>G (p.Asn856Ser) | Missense | 0.2% | Unknown significance; COSMIC |
| c.3456_3457insA | Frameshift | <0.1% | Loss of function; predicted truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in KNTC1 are predicted to cause loss of function, impairing RZZ complex assembly and mitotic checkpoint signaling.
Gain of Function (GOF)
No gain-of-function mutations have been reported for KNTC1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for KNTC1.
View complete mutation data：
Gene Ontology (GO)
| • kinetochore (GO:0000776) | • condensed chromosome kinetochore (GO:0000777) |
| • spindle (GO:0005819) | • chromosome segregation (GO:0007059) |
| • spindle checkpoint signaling (GO:0031577) | • cell division (GO:0051301) |
Pathways
• Mitotic spindle checkpoint (Reactome: R-HSA-69618)
• RZZ complex assembly (Reactome: R-HSA-141444)
Protein Summary
KNTC1 (also known as ROD) is a 230 kDa protein that forms the RZZ complex with ZW10 and Zwilch. This complex is critical for recruiting the spindle checkpoint protein Mad1-Mad2 to unattached kinetochores, thereby ensuring accurate chromosome segregation. KNTC1 also participates in the dynein-mediated removal of checkpoint proteins from kinetochores upon microtubule attachment.
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