CABLES1 (Cdk5 and Abl enzyme substrate 1)
- symbol:
- CABLES1
- locus group:
- protein-coding gene
- location:
- 18q11.2
- gene_family:
- alias symbol:
- HsT2563|FLJ35924
- alias name:
- None
- entrez id:
- 91768
- ensembl gene id:
- ENSG00000134508
- ucsc gene id:
- uc002kuc.3
- refseq accession:
- NM_138375
- hgnc_id:
- HGNC:25097
- approved reserved:
- 2004-01-09
This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
这个基因编码通过用几个周期蛋白依赖性激酶的相互作用参与细胞周期调控的蛋白质。一项研究（PMID：16177568）报告从该基因导致去除仅在人类癌细胞的细胞周期蛋白结合结构域的转录物的异常剪接，和基因表达的降低大肠癌（PMID：17982127）中所示。多转录变体编码不同亚型已经发现了这种基因。 [由RefSeq的，2012年1月提供]
基因本体信息
CABLES1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
CABLES1基因的本体（GO）信息：
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Malignant neoplasm of breast | 0.12 | 1 | 1 | GWASCAT |
| Colorectal Neoplasms | 0.12 | 1 | 0 | CTD_human |
| ovarian neoplasm | 0.00272435 | 1 | 0 | LHGDN |
| Malignant tumor of colon | 0.000814326 | 3 | 0 | BeFree |
| Colon Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of lung | 0.000542884 | 2 | 0 | BeFree |
| Endometrial Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Intestinal adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
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