CENPT
Centromere Protein T: A Key Component of the Constitutive Centromere-Associated Network
Gene Information Card
| Symbol | CENPT |
|---|---|
| Full Name | Centromere Protein T |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 80152 ncbi.nlm.nih.gov/gene/80152 |
| Ensembl ID | ENSG00000102984 |
| UniProt ID | Q96BT3 |
| OMIM ID | 611510 |
| HGNC ID | 25787 |
| Aliases | CENP-T, C20orf172, dJ1057B20.2 |
Description
CENPT encodes centromere protein T (CENP-T), a component of the constitutive centromere-associated network (CCAN) that is essential for kinetochore assembly and proper chromosome segregation during mitosis. CENP-T directly binds to the centromeric histone H3 variant CENP-A and recruits other kinetochore proteins, linking centromeric chromatin to microtubule attachment sites. It is required for mitotic progression and genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly, primary autosomal recessive (MCPH) | Loss-of-function mutations in CENPT impair centromere function and mitotic fidelity, leading to reduced neuronal progenitor proliferation and microcephaly. | PMID: 27616480 |
| Breast cancer | CENPT overexpression is associated with chromosomal instability and poor prognosis in breast cancer, potentially through aberrant kinetochore assembly. | PMID: 31073040 |
| Colorectal cancer | CENPT upregulation correlates with tumor progression and aneuploidy in colorectal cancer. | PMID: 31570863 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.5 | Medium |
| Bone marrow | 12.3 | Medium |
| Lymph node | 10.1 | Medium |
| Brain | 6.2 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HEK 293 | 12.8 | Embryonic kidney cells |
| K562 | 14.1 | Leukemia cell line |
| MCF7 | 11.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.625C>T (p.Arg209*) | Nonsense | Rare | Loss of function; associated with microcephaly |
| c.1183G>A (p.Gly395Arg) | Missense | Rare | Impaired kinetochore localization; likely pathogenic |
| c.1462_1463del (p.Leu488fs) | Frameshift | Rare | Loss of function; reported in MCPH patients |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in CENPT lead to truncated or absent protein, disrupting CCAN assembly and causing mitotic errors, as seen in primary microcephaly.
Gain of Function (GOF)
Not reported; overexpression in cancers may contribute to chromosomal instability but is not classified as gain-of-function.
Dominant Negative (DN)
Not described; CENPT mutations are typically recessive in microcephaly.
View complete mutation data：
Gene Ontology (GO)
| • chromosome (GO:0000775) | • kinetochore (GO:0000776) |
| • condensed chromosome kinetochore (GO:0000777) | • chromosome segregation (GO:0007059) |
| • sister chromatid cohesion (GO:0007062) | • spindle (GO:0005819) |
| • 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-68877 - Mitotic Prometaphase
Protein Summary
CENP-T is a 661-amino acid protein (UniProt Q96BT3) that localizes to the inner kinetochore throughout the cell cycle. It contains a conserved N-terminal domain that interacts with CENP-A nucleosomes and a C-terminal domain that recruits the KMN (KNL1/Mis12/Ndc80) network. CENP-T is essential for kinetochore assembly, spindle checkpoint signaling, and accurate chromosome segregation. Its expression is cell-cycle regulated, peaking in G2/M phase.
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