DOCK1 (dedicator of cytokinesis 1)
- symbol:
- DOCK1
- locus group:
- protein-coding gene
- location:
- 10q26.2
- gene_family:
- alias symbol:
- DOCK180|ced5
- alias name:
- DOwnstream of CrK
- entrez id:
- 1793
- ensembl gene id:
- ENSG00000150760
- ucsc gene id:
- uc001ljt.4
- refseq accession:
- NM_001380
- hgnc_id:
- HGNC:2987
- approved reserved:
- 1998-05-13
DOCK1（Dedicator of Cytokinesis 1）属于DOCK基因家族，该家族共有11个成员（DOCK1-DOCK11），主要功能是通过激活小G蛋白Rho家族（如Rac和Cdc42）调控细胞骨架重组、细胞迁移和信号转导。DOCK1作为鸟苷酸交换因子（GEF），通过促进Rac1的GTP结合形式激活其下游信号通路，从而影响细胞运动、吞噬作用和免疫反应。DOCK1在多种组织中表达，尤其在免疫细胞（如巨噬细胞和中性粒细胞）中发挥关键作用，参与炎症反应和病原体清除。DOCK1基因突变可能导致其GEF活性丧失，进而破坏细胞迁移和免疫防御功能，与慢性肉芽肿病等免疫缺陷疾病相关。过表达DOCK1会增强细胞迁移能力，可能促进肿瘤转移，而降低表达则可能导致免疫细胞功能受损，增加感染风险。DOCK家族成员的共性是含有DHR-1和DHR-2结构域，前者结合磷脂酸介导膜定位，后者催化GTP/GDP交换。DOCK1还参与神经发育，其异常表达与精神分裂症等神经系统疾病有关。研究表明，DOCK1通过调控Rac1影响神经元突触形成和可塑性。此外，DOCK1在血管生成中也起作用，可能成为癌症治疗的潜在靶点。
This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
这个基因编码胞质蛋白家族的报国的成员。胞质蛋白报国作为鸟嘌呤核苷酸交换因子的小Rho家族的G蛋白。所编码的蛋白质调节小GTP酶外消旋，从而影响若干生物过程，包括吞噬作用和细胞迁移。这个基因的过表达也与某些癌症相关联。选择性剪接结果在多个抄本变形。 [由RefSeq的，2014年3月提供]
基因本体信息
DOCK1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
DOCK1基因的本体（GO）信息：
| 名称 |
|---|
| 4810 Regulation of actin cytoskeleton [PATH:hsa04810] |
| 4510 Focal adhesion [PATH:hsa04510] |
| 5131 Shigellosis [PATH:hsa05131] |
| 5100 Bacterial invasion of epithelial cells [PATH:hsa05100] |
| 名称 |
|---|
| Axon guidance |
| DCC mediated attractive signaling |
| Developmental Biology |
| Factors involved in megakaryocyte development and platelet production |
| Fcgamma receptor (FCGR) dependent phagocytosis |
| Hemostasis |
| Immune System |
| Innate Immune System |
| Netrin-1 signaling |
| Regulation of actin dynamics for phagocytic cup formation |
| Signal Transduction |
| Signaling by VEGF |
| VEGFA-VEGFR2 Pathway |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Substance-Related Disorders | 0.12 | 1 | 0 | CTD_human |
| Cerebrovascular accident | 0.004734064 | 1 | 2 | GAD |
| Subarachnoid Hemorrhage | 0.002367032 | 1 | 0 | GAD |
| Cerebral Hemorrhage | 0.002367032 | 1 | 0 | GAD |
| Hypersensitivity | 0.002367032 | 1 | 0 | GAD |
| Asthma | 0.002367032 | 1 | 0 | GAD |
| Intracranial Hemorrhages | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Ovarian Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Carcinogenesis | 0.000814326 | 3 | 3 | BeFree |
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