CENPC: Centromere Protein C
Essential component of the inner kinetochore, involved in centromere assembly and chromosome segregation.
Gene Information Card
| Symbol | CENPC |
|---|---|
| Full Name | Centromere Protein C |
| Gene Type | Protein coding |
| Chromosomal Location | 4q24 |
| NCBI Gene ID | 1060 ncbi.nlm.nih.gov/gene/1060 |
| Ensembl ID | ENSG00000138674 |
| UniProt ID | Q03188 |
| OMIM ID | 117141 |
| HGNC ID | 1867 |
| Aliases | CENP-C, MIF2, ICEN32 |
Description
CENPC encodes centromere protein C (CENP-C), a fundamental component of the inner kinetochore. It binds directly to centromeric DNA and is essential for kinetochore assembly, spindle checkpoint signaling, and accurate chromosome segregation during mitosis. CENP-C recruits other kinetochore proteins and is required for proper centromere function. Autoantibodies against CENP-C are found in some patients with autoimmune diseases, and alterations in CENPC expression are implicated in cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of CENPC contributes to chromosomal instability and aneuploidy, promoting tumor progression. | PMID: 25691885 |
| Colorectal cancer | Elevated CENPC mRNA levels correlate with poor prognosis and increased proliferation. | PMID: 30348676 |
| Autoimmune disease (scleroderma) | Autoantibodies targeting CENP-C are detected in patients with limited cutaneous systemic sclerosis. | PMID: 10932196 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 18.2 | Medium |
| Lymph node | 15.7 | Medium |
| Brain | 4.3 | Low |
| Heart | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.1 | Cervical cancer cell line; high expression |
| MCF7 | 19.8 | Breast cancer cell line; elevated compared to normal |
| HCT116 | 17.5 | Colorectal cancer cell line; moderate expression |
| K562 | 14.3 | Leukemia cell line; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown functional impact; rare variant |
| c.567_568insA (p.Glu190Argfs*5) | Frameshift | <0.01% | Predicted loss of function; truncation |
| c.890G>A (p.Arg297His) | Missense | <0.01% | Reported in COSMIC; potential impact on kinetochore binding |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein are predicted to cause loss of function, impairing kinetochore assembly.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in CENPC.
Dominant Negative (DN)
Missense mutations in the DNA-binding domain may act in a dominant-negative manner by disrupting centromere targeting.
View complete mutation data：
Gene Ontology (GO)
| • chromosome (GO:0000775) | • kinetochore (GO:0000776) |
| • condensed chromosome kinetochore (GO:0000777) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) | • chromosome segregation (GO:0007059) |
| • centromere complex assembly (GO:0034508) | • cell division (GO:0051301) |
Pathways
• KEGG hsa04110: Cell cycle
• Reactome R-HSA-141444: Amplification of signal from the kinetochores
• Reactome R-HSA-2467813: Separation of sister chromatids
Protein Summary
CENP-C is a 943-amino acid protein with a conserved CENP-C motif and a DNA-binding domain. It localizes to the inner kinetochore throughout the cell cycle and directly binds to CENP-A nucleosomes. CENP-C is essential for recruiting the outer kinetochore complex and for spindle checkpoint activation. Its expression is cell cycle-regulated, peaking in G2/M phase.
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