CENPS
Centromere Protein S
Gene Information Card
| Symbol | CENPS |
|---|---|
| Full Name | Centromere Protein S |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 139990 ncbi.nlm.nih.gov/gene/139990 |
| Ensembl ID | ENSG00000162627 |
| UniProt ID | Q8N2Z9 |
| OMIM ID | 609275 |
| HGNC ID | 18443 |
| Aliases | MHF1, FAAP16, CENP-S, APITD1 |
Description
CENPS encodes centromere protein S, a component of the CENP-A nucleosome-associated complex (CENP-A NAC) and the constitutive centromere-associated network (CCAN). It is essential for kinetochore assembly, proper chromosome segregation during mitosis, and DNA repair. CENPS also functions as a histone-fold protein that forms a heterotetramer with CENPX (MHF2) to bind DNA and promote homologous recombination.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi anemia complementation group M | Defective DNA repair due to CENPS loss impairs interstrand crosslink repair | OMIM #614082; ClinVar pathogenic variants |
| Microcephaly, growth retardation, and chromosomal instability | Disrupted centromere function leads to aneuploidy and mitotic errors | OMIM #609275; case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Medium |
| Lymph node | 7.1 | Medium |
| Brain | 4.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| K562 | 9.5 | Leukemia cell line |
| HEK293 | 8.7 | Embryonic kidney cell line |
| HCT116 | 7.9 | Colorectal carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.502C>T (p.Arg168Trp) | Missense | <0.01% | Impaired DNA binding and centromere localization |
| c.631_632del (p.Glu211fs) | Frameshift | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the protein or disrupt the histone-fold domain lead to loss of centromere targeting and DNA repair defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants in the histone-fold domain may act as dominant negative by disrupting heterodimerization with CENPX.
View complete mutation data：
Gene Ontology (GO)
| • Centromere complex assembly | • Kinetochore organization |
| • DNA repair | • Homologous recombination |
| • Chromosome segregation | • Nucleosome assembly |
| • Protein heterodimerization activity | • DNA binding |
Pathways
• Fanconi anemia pathway
• CENP-A containing nucleosome assembly
• Cell cycle - mitosis
• Homologous recombination repair
Protein Summary
CENPS (CENP-S) is a 211-amino acid histone-fold protein that forms a stable heterodimer with CENPX (MHF2). This complex binds DNA and is required for both centromere-specific nucleosome assembly and Fanconi anemia-mediated DNA interstrand crosslink repair. CENPS localizes to active centromeres throughout the cell cycle and is essential for kinetochore formation and accurate chromosome segregation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CENPS Knockout HEK293 Cell Line | EDJ-KQ12860 | Human | 378708 | Details Get a Quote |
| CENPS Knockout A-549 Cell Line | EDJ-KQ42030 | Human | 378708 | Details Get a Quote |
| CENPS Knockout HCT 116 Cell Line | EDJ-KQ42031 | Human | 378708 | Details Get a Quote |
| CENPS Knockout HeLa Cell Line | EDJ-KQ40781 | Human | 378708 | Details Get a Quote |
| CENPS-CORT Knockout HEK293 Cell Line | EDJ-KQ52471 | Human | 100526739 | Details Get a Quote |
| CENPS-CORT Knockout HeLa Cell Line | EDJ-KQ60934 | Human | 100526739 | Details Get a Quote |
| CENPS-CORT Knockout A-549 Cell Line | EDJ-KQ69409 | Human | 100526739 | Details Get a Quote |
| CENPS-CORT Knockout HCT 116 Cell Line | EDJ-KQ77760 | Human | 100526739 | Details Get a Quote |
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