CENPB (centromere protein B)
- symbol:
- CENPB
- locus group:
- protein-coding gene
- location:
- 20p13
- gene_family:
- Helix-turn-helix CENPB type domain containing
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 1059
- ensembl gene id:
- ENSG00000125817
- ucsc gene id:
- uc002wjk.3
- refseq accession:
- NM_001810
- hgnc_id:
- HGNC:1852
- approved reserved:
- 1988-05-31
CENPB（着丝粒蛋白B）属于着丝粒蛋白家族，是着丝粒区域的重要组成成分，主要参与染色体分离和有丝分裂过程中纺锤体的正确附着。该基因编码的蛋白质含有DNA结合域，能够特异性识别并结合着丝粒区域的卫星DNA序列（如α卫星DNA），帮助构建着丝粒的三维结构。CENPB作为着丝粒的骨架蛋白之一，与其他着丝粒蛋白（如CENPA、CENPC等）共同形成动粒复合体，确保细胞分裂时染色体的精准分配。该基因突变可能导致着丝粒功能异常，引发染色体不稳定性、非整倍体或染色体错误分离，与某些癌症（如乳腺癌、结直肠癌）和遗传性疾病（如着丝粒不稳定综合征）的发生相关。CENPB过表达可能干扰正常着丝粒组装，导致有丝分裂错误和基因组不稳定性增加；而表达降低则可能减弱着丝粒的DNA结合能力，影响染色体分离的准确性。该基因属于CENP（着丝粒蛋白）家族，该家族成员均定位在着丝粒区域，具有保守的DNA结合特性，共同维持着丝粒的结构完整性和功能。CENP家族蛋白在进化上高度保守，从酵母到人类都存在同源基因，其核心功能是通过与微管结合来介导染色体运动。研究表明CENPB的表达水平与细胞周期调控密切相关，在G1/S期转换时表达量上升，其功能异常可能通过影响细胞周期检查点导致肿瘤发生。此外，CENPB还参与着丝粒的表观遗传调控，帮助维持该区域的异染色质状态。
This gene product is a highly conserved protein that facilitates centromere formation. It is a DNA-binding protein that is derived from transposases of the pogo DNA transposon family. It contains a helix-loop-helix DNA binding motif at the N-terminus, and a dimerization domain at the C-terminus. The DNA binding domain recognizes and binds a 17-bp sequence (CENP-B box) in the centromeric alpha satellite DNA. This protein is proposed to play an important role in the assembly of specific centromere structures in interphase nuclei and on mitotic chromosomes. It is also considered a major centromere autoantigen recognized by sera from patients with anti-centromere antibodies. [provided by RefSeq, Jul 2008]
Gene Ontology
Subcellular localization of CENPB (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for CENPB:
| Interacting Gene | Interaction | Source/Score |
| Disease | Score | NofPmids | NofSnps | Source |
| Systemic Scleroderma | 0.000814326 | 3 | 0 | BeFree |
| Connective Tissue Diseases | 0.000271442 | 1 | 0 | BeFree |
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