CENPH (centromere protein H)
- symbol:
- CENPH
- locus group:
- protein-coding gene
- location:
- 5q13.2
- gene_family:
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 64946
- ensembl gene id:
- ENSG00000153044
- ucsc gene id:
- uc003jvp.3
- refseq accession:
- NM_022909
- hgnc_id:
- HGNC:17268
- approved reserved:
- 2001-11-30
CENPH（Centromere Protein H）是一种着丝粒相关蛋白，属于CENP（Centromere Protein）基因家族成员，该家族在染色体分离和有丝分裂中起关键作用。CENPH位于着丝粒区域（染色体上连接纺锤体的结构），参与形成动粒（kinetochore，负责牵引染色体的蛋白质复合体），确保染色体在细胞分裂时正确分离。其表达产物与其他CENP蛋白（如CENPA、CENPC）相互作用，共同维持着丝粒结构和功能稳定性。CENP家族的共性是参与染色体 segregation（分离）、细胞周期调控和基因组稳定性维护。CENPH突变可能导致动粒组装异常，引发染色体错误分离（非整倍体，即染色体数目异常），与癌症（如结直肠癌、肝癌）和发育障碍相关。过表达CENPH可能扰乱有丝分裂纺锤体检查点（spindle checkpoint，防止错误分离的监控机制），促使基因组不稳定性；而表达降低则可能导致染色体滞后或丢失，同样引发非整倍体。此外，CENPH表达异常可能影响其他着丝粒蛋白（如CENPA）的定位，进一步破坏细胞分裂。目前研究还发现CENPH在部分肿瘤中高表达，可能作为潜在治疗靶点。专业术语解释：着丝粒（centromere）是染色体中部区域，动粒（kinetochore）是附着于着丝粒的蛋白质结构，非整倍体（aneuploidy）指染色体数目异常。
Centromere and kinetochore proteins play a critical role in centromere structure, kinetochore formation, and sister chromatid separation. The protein encoded by this gene colocalizes with inner kinetochore plate proteins CENP-A and CENP-C in both interphase and metaphase. It localizes outside of centromeric heterochromatin, where CENP-B is localized, and inside the kinetochore corona, where CENP-E is localized during prometaphase. It is thought that this protein can bind to itself, as well as to CENP-A, CENP-B or CENP-C. Multimers of the protein localize constitutively to the inner kinetochore plate and play an important role in the organization and function of the active centromere-kinetochore complex. [provided by RefSeq, Jul 2008]
Gene Ontology
Subcellular localization of CENPH (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for CENPH:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| Cell Cycle |
| Cell Cycle, Mitotic |
| Chromosome Maintenance |
| Deposition of new CENPA-containing nucleosomes at the centromere |
| M Phase |
| Mitotic Anaphase |
| Mitotic Metaphase and Anaphase |
| Mitotic Prometaphase |
| Nucleosome assembly |
| Resolution of Sister Chromatid Cohesion |
| RHO GTPase Effectors |
| RHO GTPases Activate Formins |
| Separation of Sister Chromatids |
| Signal Transduction |
| Signaling by Rho GTPases |
| Disease | Score | NofPmids | NofSnps | Source |
| Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
| Stomach Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.000542884 | 2 | 0 | BeFree |
| Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
| Cervical Intraepithelial Neoplasia | 0.000271442 | 1 | 0 | BeFree |
| Tongue Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of tongue | 0.000271442 | 1 | 0 | BeFree |
| Nasopharyngeal carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
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