KNL1 (kinetochore scaffold 1)
- symbol:
- KNL1
- locus group:
- protein-coding gene
- location:
- 15q15.1
- gene_family:
- Protein phosphatase 1 regulatory subunits
- alias symbol:
- D40|AF15Q14|CT29|KIAA1570|hKNL-1|hSpc105|PPP1R55|Spc7
- alias name:
- cancer/testis antigen 29|kinetocho…
- entrez id:
- 57082
- ensembl gene id:
- ENSG00000137812
- ucsc gene id:
- uc010bbs.2
- refseq accession:
- NM_144508
- hgnc_id:
- HGNC:24054
- approved reserved:
- 2005-04-05
The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013]
由该基因编码的蛋白质是必需的创作动粒 - 微管附件和染色体分离的多蛋白组件的一个组成部分。所编码的蛋白质的功能为该真核细胞周期中影响主轴组件关卡蛋白的支架，它具有至少五种不同的着丝粒蛋白质和两个检测点激酶相互作用。在成人中，这种基因在正常睾丸，各种癌细胞系和其它组织的原发肿瘤主要表达和胎儿组织中普遍表达。该基因最初被鉴定为与在叔混合谱系白血病（MLL）基因融合伴侣（11; 15）（Q23; Q14）。突变这个基因导致常染色体隐性遗传的主小头畸形-4（MCPH4）。在多个转录剪接变异体导致编码不同亚型。附加剪接变体已被描述，但它们的生物有效性未被确认。 [由RefSeq的，2013年1月提供]
基因本体信息
KNL1基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
KNL1基因的本体（GO）信息：
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