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The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. Mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be a yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 18; the gene for the other resides on chromosome 16. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质是AAA蛋白家族(与不同的细胞活性相关的ATP酶)的成员,并且是酵母Vps4蛋白的同源物。在人类中,酵母蛋白质两个旁系同源物也已确定。前者共享高度的氨基酸序列相似性的相互,并且还与酵母Vps4和鼠标SKD1蛋白质。鼠标SKD1(K +转运缺陷1的抑制剂)已被证明是一种酵母Vps4直向同源物。功能研究表明人类旁系与内体区室相关联,并且涉及细胞内蛋白质运输,在酵母类似于Vps4蛋白。编码本旁系的基因已被定位于18号染色体;对于其他驻留在16号染色体上的基因[由RefSeq的,2008年7月提供]
VPS4B基因(以及对应的蛋白质)的细胞分布位置:
VPS4B基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Diabetic Nephropathy | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cerebral Infarction | 0.000271442 | 1 | 0 | BeFree |
Colitis | 0.000271442 | 1 | 0 | BeFree |
Crohn Disease | 0.000271442 | 1 | 0 | BeFree |
Nephroblastoma | 0.000271442 | 1 | 0 | BeFree |
Parkinson Disease | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Cerebral Ischemia | 0.000271442 | 1 | 0 | BeFree |
Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
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