CENPX: Centromere Protein X
A key component of the CENP-A nucleosome-associated complex (CENP-AC) and the constitutive centromere-associated network (CCAN), essential for kinetochore assembly and chromosome segregation.
Gene Information Card
| Symbol | CENPX |
|---|---|
| Full Name | Centromere Protein X |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 201254 ncbi.nlm.nih.gov/gene/201254 |
| Ensembl ID | ENSG00000187626 |
| UniProt ID | Q8N7H5 |
| OMIM ID | 611511 |
| HGNC ID | 26776 |
| Aliases | CENP-X, FAAP10, MHF2 |
Description
CENPX encodes centromere protein X, a component of the CENP-A nucleosome-associated complex (CENP-AC) and the constitutive centromere-associated network (CCAN). It is essential for proper kinetochore assembly, microtubule attachment, and chromosome segregation during mitosis. CENPX also functions in the Fanconi anemia pathway as part of the FA core complex (as FAAP10/MHF2), contributing to DNA interstrand crosslink repair and genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi anemia complementation group (FAAP10 deficiency) | Loss of CENPX disrupts FA core complex assembly, impairing DNA crosslink repair. | ClinVar, OMIM |
| Cancer (various) | CENPX overexpression or mutation may promote chromosomal instability and tumorigenesis. | COSMIC, NCBI Gene |
| Primary microcephaly (reported in some studies) | Defects in centromere function and chromosome segregation due to CENPX loss. | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone marrow | 9.8 | Medium |
| Lymph node | 8.5 | Medium |
| Brain (cerebellum) | 6.2 | Low |
| Heart | 5.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| K562 | 11.7 | Medium expression |
| HEK293 | 10.4 | Medium expression |
| MCF7 | 8.9 | Medium expression |
| A549 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon, loss of function |
| c.202C>T (p.Arg68Trp) | Missense | <0.01% | Impaired FA core complex binding |
| c.340_341del (p.Gln114fs) | Frameshift | <0.01% | Loss of function, associated with Fanconi anemia |
| c.424G>A (p.Glu142Lys) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in CENPX lead to truncated or absent protein, disrupting CENP-AC/CCAN assembly and FA pathway function, causing genomic instability.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported; overexpression in some cancers may contribute to tumor progression.
Dominant Negative (DN)
No dominant-negative mutations described; loss of one allele may be compensated by the other.
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) | • cell cycle (GO:0007049) |
| • chromosome segregation (GO:0007059) | • CENP-A containing nucleosome assembly (GO:0034080) |
| • replication fork protection (GO:0048478) | • error-free translesion synthesis (GO:0070987) |
Pathways
• Fanconi anemia pathway (Reactome: R-HSA-6783310)
• Cell Cycle
• Mitotic (Reactome: R-HSA-69278)
• Chromosome Maintenance (Reactome: R-HSA-73886)
• Resolution of Sister Chromatid Cohesion (Reactome: R-HSA-2467813)
Protein Summary
CENPX is a 15.9 kDa protein (142 amino acids) that forms a heterodimer with CENPS (MHF1) to constitute the MHF complex, which is part of both the CENP-A nucleosome-associated complex (CENP-AC) and the Fanconi anemia core complex. It localizes to centromeres throughout the cell cycle and is required for efficient kinetochore assembly, microtubule attachment, and DNA repair. The protein contains a conserved histone-fold domain that mediates DNA binding and nucleosome interaction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CENPX Knockout HEK293 Cell Line | EDJ-KQ4785 | Human | 201254 | Details Get a Quote |
| CENPX Knockout A-549 Cell Line | EDJ-KQ27542 | Human | 201254 | Details Get a Quote |
| CENPX Knockout HCT 116 Cell Line | EDJ-KQ27543 | Human | 201254 | Details Get a Quote |
| CENPX Knockout HeLa Cell Line | EDJ-KQ27544 | Human | 201254 | Details Get a Quote |
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