CENPW (Centromere Protein W)
A key component of the inner kinetochore essential for centromere function and chromosome segregation
Gene Information Card
| Symbol | CENPW |
|---|---|
| Full Name | Centromere Protein W |
| Gene Type | Protein coding |
| Chromosomal Location | 6q22.1 |
| NCBI Gene ID | 387103 ncbi.nlm.nih.gov/gene/387103 |
| Ensembl ID | ENSG00000188010 |
| UniProt ID | Q5VZY2 |
| OMIM ID | 300750 |
| HGNC ID | 21490 |
| Aliases | CENP-W, C6orf173, FLJ13305 |
Description
CENPW encodes centromere protein W, a component of the CENP-T-W-S-X complex that is part of the inner kinetochore. This protein is essential for proper kinetochore assembly and chromosome segregation during mitosis. It localizes to centromeres and interacts with other centromere proteins to form the constitutive centromere-associated network (CCAN).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of CENPW may contribute to chromosomal instability and tumor progression | COSMIC; PMID: 25944712 |
| Colorectal cancer | Elevated CENPW expression associated with poor prognosis and aneuploidy | COSMIC; PMID: 28424480 |
| Hepatocellular carcinoma | CENPW upregulation linked to cell proliferation and migration | COSMIC; PMID: 29367642 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone marrow | 8.7 | Low |
| Lymph node | 6.5 | Low |
| Spleen | 5.2 | Low |
| Brain | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.4 | Cervical cancer cell line |
| K562 | 10.2 | Leukemia cell line |
| A549 | 8.9 | Lung cancer cell line |
| MCF7 | 7.1 | Breast cancer cell line |
| HEK293 | 4.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; likely loss of function |
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Unknown significance; rare variant |
| c.347_348insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations are predicted to cause loss of CENPW function, impairing kinetochore assembly.
Gain of Function (GOF)
No gain-of-function mutations reported in CENPW.
Dominant Negative (DN)
No dominant-negative mutations described for CENPW.
View complete mutation data：
Gene Ontology (GO)
| • chromosome (GO:0000775) | • kinetochore (GO:0000776) |
| • condensed chromosome kinetochore (GO:0000777) | • protein binding (GO:0005515) |
| • cell cycle (GO:0007049) | • cell division (GO:0051301) |
| • chromosome segregation (GO:0007059) |
Pathways
• KEGG hsa04110: Cell cycle
• Reactome R-HSA-141444: Amplification of signal from the kinetochores
• Reactome R-HSA-68877: Mitotic Prometaphase
Protein Summary
Centromere protein W (CENPW) is a 85-amino acid protein (9.8 kDa) that localizes to the inner kinetochore. It forms a complex with CENP-T, CENP-S, and CENP-X, which is critical for kinetochore assembly and attachment to spindle microtubules. CENPW contains a histone-fold domain that mediates DNA binding and nucleosome-like structure formation at centromeres. Its expression is cell cycle-regulated, peaking in G2/M phase.
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