CENPV: Centromere Protein V
A centromere-associated protein involved in kinetochore assembly and chromosome segregation
Gene Information Card
| Symbol | CENPV |
|---|---|
| Full Name | Centromere Protein V |
| Gene Type | Protein coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 201161 ncbi.nlm.nih.gov/gene/201161 |
| Ensembl ID | ENSG00000166582 |
| UniProt ID | Q71F23 |
| OMIM ID | 611509 |
| HGNC ID | 29933 |
| Aliases | CENP-V, CFAP59, bA421M1.2 |
Description
CENPV encodes centromere protein V, a component of the inner kinetochore that plays a role in proper chromosome segregation during mitosis. It localizes to centromeres and interacts with other centromere proteins to ensure accurate kinetochore assembly and spindle checkpoint signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of CENPV expression may contribute to chromosomal instability and aneuploidy in tumor cells. | COSMIC; literature |
| Primary ciliary dyskinesia (PCD) | CENPV is also known as CFAP59; mutations in cilia-associated genes can cause PCD, though direct evidence for CENPV is limited. | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 6.1 | Low |
| Spleen | 5.4 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| K562 | 9.8 | Leukemia cell line |
| A549 | 7.3 | Lung cancer cell line |
| HEK293 | 6.5 | Embryonic kidney 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; reported in COSMIC |
| c.632A>G (p.Gln211Arg) | Missense | <0.01% | Unknown; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • centromere complex assembly | • kinetochore assembly |
| • chromosome segregation | • mitotic cell cycle |
| • protein binding | • microtubule binding |
Pathways
• Cell Cycle
• Mitotic (Reactome: R-HSA-69278)
• Kinetochore assembly (Reactome: R-HSA-141444)
Protein Summary
Centromere protein V (CENP-V) is a 268-amino acid protein that localizes to the inner kinetochore. It contains a conserved domain of unknown function (DUF) and is essential for proper kinetochore-microtubule attachment. CENP-V interacts with CENP-A and other centromere components to maintain genomic stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CENPV Knockout HEK293 Cell Line | EDJ-KQ4728 | Human | 201161 | Details Get a Quote |
| CENPVL1 Knockout HEK293 Cell Line | EDJ-KQ12863 | Human | 389857 | Details Get a Quote |
| CENPVL2 Knockout HEK293 Cell Line | EDJ-KQ12864 | Human | 441495 | Details Get a Quote |
| CENPVL3 Knockout HEK293 Cell Line | EDJ-KQ12865 | Human | 347549 | Details Get a Quote |
| CENPV Knockout A-549 Cell Line | EDJ-KQ27465 | Human | 201161 | Details Get a Quote |
| CENPV Knockout HCT 116 Cell Line | EDJ-KQ27466 | Human | 201161 | Details Get a Quote |
| CENPV Knockout HeLa Cell Line | EDJ-KQ27467 | Human | 201161 | Details Get a Quote |
