VPS4B (vacuolar protein sorting 4 homolog B)

基因基本信息

基因基本信息

symbol:
VPS4B
locus group:
protein-coding gene
location:
18q21.33
gene_family:
AAA ATPases (ATPases associated with diverse cellular activities)
alias symbol:
VPS4-2|SKD1B
alias name:
None
entrez id:
9525
ensembl gene id:
ENSG00000119541
ucsc gene id:
uc002lix.4
refseq accession:
NM_004869
hgnc_id:
HGNC:10895
approved reserved:
1999-07-22

基因染色体位置

基因染色体位置

18q21.33
基因染色体位置图

基因简述

基因简述

VPS4B（液泡蛋白分选4同源物B）属于AAA ATP酶家族（ATPases Associated with diverse cellular Activities），这是一个广泛参与细胞膜运输、蛋白质降解和细胞器生物发生的蛋白家族。该基因编码的蛋白质主要参与多泡体（MVB）形成和胞内运输过程，通过ESCRT（内体分选复合物运输所需）途径调控膜重塑和囊泡出芽，尤其在细胞分裂、病毒出芽和受损蛋白清除中起关键作用。其表达产物通过水解ATP提供能量，解聚ESCRT-III复合物以完成膜分离。主要作用位点为内体膜和中间体（midbody），在胞质分裂时确保细胞完全分离。突变会导致ESCRT通路功能障碍，引发神经退行性疾病（如帕金森病）和癌症，因受损蛋白积累和异常膜运输。与肿瘤的关系体现在其作为抑癌基因的功能缺失会促进上皮-间质转化（EMT）。过表达时可能增强溶酶体降解途径，但会干扰正常内体运输；低表达则导致多泡体成熟障碍，未降解的受体（如EGFR）持续激活促癌信号。该基因属于VPS4基因家族（含VPS4A和VPS4B），家族共性为具有保守的AAA结构域和微管相互作用域，均参与ESCRT依赖性膜剪切。VPS4B相比VPS4A在精子和神经元中表达更高，二者功能部分冗余但组织分布有差异。最新研究还发现其单核苷酸多态性（SNP）与精神分裂症风险相关，可能通过影响突触囊泡循环发挥作用。

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]

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]

OMIM数据库中对VPS4B基因的介绍     Wikipedia数据库中对VPS4B基因的介绍

基因序列

基因序列

VPS4B基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

VPS4B基因的碱基突变：           仅显示部分snp
rs952245       rs2276317       rs2551398       rs4603674       rs6567340       rs6567341       rs6567342       rs7229694       rs7230063       rs7234319       rs7239544       rs7245157       rs8091623       rs9956855       rs9957975       rs9962050       rs9965766      

基因表达

基因表达

VPS4B基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
TAACACCTTGCTCTCCAGG
59
CGCAACATATCCGACATGG
59
TTAGGCGAAGATTTGAGAAACG
59
CTAGGTGCAGTTTAAACATTGC
59
AGAATCAACTTCAAGGTGCC
59
CTTTGGCTCCTTCAAGTCC
59
CTGGGAACTACGAAGAAGC
58
CCCTGTGCTTCATATTTAACG
58
CTGGGAACTACGAAGAAGC
58
CCCTGTGCTTCATATTTAACG
58
AGAATCAACTTCAAGGTGCC
59
CTTTGGCTCCTTCAAGTCC
59
CTGGGAACTACGAAGAAGC
58
CCCTGTGCTTCATATTTAACG
57
TTGAAGGAGCCAAAGAAGC
58
CAAGGTGTTCTCTTGCCTG
58
AAGCTAAATCTTCCCTGTGC
58
TTTGGCTCCTTCAAGTCCA
59
TGAAGGAGCCAAAGAAGCA
59
CAAGGTGTTCTCTTGCCTG
58

转录因子

转录因子

      尚未收录相关数据

基因本体信息

VPS4B基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 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

VPS4B基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000920
O75351 (UniProtKB)
IMP
GO:0000922
O75351 (UniProtKB)
IDA
GO:0005515
O75351 (UniProtKB)
IPI
GO:0005515
O75351 (UniProtKB)
IPI
GO:0005515
O75351 (UniProtKB)
IPI
GO:0005515
O75351 (UniProtKB)
IPI
GO:0005515
O75351 (UniProtKB)
IPI
GO:0005515
O75351 (UniProtKB)
IPI
GO:0005515
O75351 (UniProtKB)
IPI
GO:0005515
O75351 (UniProtKB)
IPI
GO:0005515
O75351 (UniProtKB)
IPI
GO:0005515
O75351 (UniProtKB)
IPI
GO:0005515
O75351 (UniProtKB)
IPI
GO:0005524
O75351 (UniProtKB)
IEA
GO:0005634
O75351 (UniProtKB)
IDA
GO:0005634
O75351 (UniProtKB)
IDA
GO:0005737
O75351 (UniProtKB)
IDA
GO:0005737
O75351 (UniProtKB)
IDA
GO:0005768
O75351 (UniProtKB)
IDA
GO:0005813
O75351 (UniProtKB)
IDA
GO:0005829
O75351 (UniProtKB)
TAS
GO:0005829
O75351 (UniProtKB)
TAS
GO:0006813
O75351 (UniProtKB)
IEA
GO:0006914
O75351 (UniProtKB)
NAS
GO:0006997
O75351 (UniProtKB)
IMP
GO:0007033
O75351 (UniProtKB)
IBA
GO:0007080
O75351 (UniProtKB)
IMP
GO:0008022
O75351 (UniProtKB)
IPI
GO:0008022
O75351 (UniProtKB)
IPI
GO:0008022
O75351 (UniProtKB)
IPI
GO:0008022
O75351 (UniProtKB)
IPI
GO:0010008
O75351 (UniProtKB)
IDA
GO:0010824
O75351 (UniProtKB)
IMP
GO:0010971
O75351 (UniProtKB)
IMP
GO:0015031
O75351 (UniProtKB)
IEA
GO:0016197
O75351 (UniProtKB)
IDA
GO:0016197
O75351 (UniProtKB)
TAS
GO:0016887
O75351 (UniProtKB)
IDA
GO:0019058
O75351 (UniProtKB)
TAS
GO:0019076
O75351 (UniProtKB)
IMP
GO:0030301
O75351 (UniProtKB)
IEA
GO:0031902
O75351 (UniProtKB)
IEA
GO:0031902
O75351 (UniProtKB)
IEA
GO:0032510
O75351 (UniProtKB)
IMP
GO:0033993
O75351 (UniProtKB)
IDA
GO:0036258
O75351 (UniProtKB)
NAS
GO:0039702
O75351 (UniProtKB)
IGI
GO:0042623
O75351 (UniProtKB)
NAS
GO:0042623
O75351 (UniProtKB)
IDA
GO:0042802
O75351 (UniProtKB)
IDA
GO:0042803
O75351 (UniProtKB)
IDA
GO:0043162
O75351 (UniProtKB)
IMP
GO:0048524
O75351 (UniProtKB)
IMP
GO:0050792
O75351 (UniProtKB)
IMP
GO:0051261
O75351 (UniProtKB)
IDA
GO:0060548
O75351 (UniProtKB)
IMP
GO:0061738
O75351 (UniProtKB)
IEA
GO:0070062
O75351 (UniProtKB)
IDA
GO:0070062
O75351 (UniProtKB)
IDA
GO:0070062
O75351 (UniProtKB)
IDA
GO:0090543
O75351 (UniProtKB)
IDA
GO:0090611
O75351 (UniProtKB)
IMP
GO:1901673
O75351 (UniProtKB)
IMP
GO:1902188
O75351 (UniProtKB)
IMP
GO:1903542
O75351 (UniProtKB)
IMP
GO:1903543
O75351 (UniProtKB)
IMP
GO:1903724
O75351 (UniProtKB)
IMP
GO:1903902
O75351 (UniProtKB)
IMP
GO:1904903
O75351 (UniProtKB)
NAS
GO:0008568
O75351 (UniProtKB)
IBA
GO:0031122
O75351 (UniProtKB)
IBA

基因相关microRNA

基因相关microRNA

可能调控 VPS4B基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
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
Cerebral Infarction 0.000271442 1 0 BeFree
Non-Small Cell Lung Carcinoma 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
Colitis 0.000271442 1 0 BeFree
Nephroblastoma 0.000271442 1 0 BeFree

基因相关服务

基因相关服务

联系方式

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