2. Gene
  3. VPS4A - vacuolar protein sorting 4 homolog A Gene

VPS4A - vacuolar protein sorting 4 homolog A Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：液泡蛋白分选 4 同系物 A

种属: Homo sapiens

同用名: SKD1; SKD2; VPS4; SKD1A; CIMDAG; VPS4-1

基因 ID: 27183 | 基因类型: protein coding

关于 VPS4A

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:69,311,350-69,326,939 (from NCBI)

This gene has 4 transcripts (splice variants), 213 orthologues, 9 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 45.1), fat (RPKM 36.4) and 25 other tissues.

功能概要

该基因编码的蛋白质是 AAA 蛋白家族 (与多种细胞活动相关的 ATP 酶) 的成员，并且是酵母 Vps4 蛋白的同系物。在人类中，已经鉴定出酵母蛋白的两个旁系同源物。前者彼此之间以及与酵母 Vps4 和小鼠 Skd1 蛋白之间具有高度的 aa 序列相似性。小鼠 Skd1 (K+ 转运缺陷 1 的抑制因子) 已被证明是真正的酵母 Vps4 直系同源物。功能研究表明，两种人类旁系同源物都与内体区室相关，并参与细胞内蛋白质运输，类似于酵母中的 Vps4 蛋白质。编码该旁系同源物的基因已定位于 16 号染色体；另一个基因位于 18 号染色体上。[RefSeq 提供，2008 年 7 月]

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. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an 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 16; the gene for the other resides on chromosome 18. [provided by RefSeq, Jul 2008]

VPS4A 基因产物(1)

mRNA Protein Name
NM_013245.3 NP_037377.1 vacuolar protein sorting-associated protein 4A
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
11559748 GOA
enables protein-containing complex binding IPI
IPI: 通过物理相互作用推断
18606141 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in abscission IMP
IMP: 通过突变表型推断
24814515 GOA
involved in cell division IDA
IDA: 通过直接分析推断
17853893 GOA
involved in endosomal transport IMP
IMP: 通过突变表型推断
11559748 GOA
involved in endosomal vesicle fusion IMP
IMP: 通过突变表型推断
15075231 GOA
involved in midbody abscission IMP
IMP: 通过突变表型推断
20616062 GOA
involved in mitotic cytokinesis checkpoint signaling IMP
IMP: 通过突变表型推断
24814515 GOA
involved in mitotic metaphase chromosome alignment IMP
IMP: 通过突变表型推断
20616062 GOA
involved in negative regulation of cytokinesis IMP
IMP: 通过突变表型推断
24814515 GOA
involved in nucleus organization IMP
IMP: 通过突变表型推断
20616062 GOA
involved in positive regulation of exosomal secretion IMP
IMP: 通过突变表型推断
22660413 GOA
involved in positive regulation of viral budding via host ESCRT complex IMP
IMP: 通过突变表型推断
24878737 GOA
involved in protein targeting to lysosome IMP
IMP: 通过突变表型推断
16973552 GOA
involved in regulation of protein localization IMP
IMP: 通过突变表型推断
18005716 GOA
involved in regulation of protein localization to plasma membrane IMP
IMP: 通过突变表型推断
24878737 GOA
involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IMP
IMP: 通过突变表型推断
22547407 GOA
involved in ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway IMP
IMP: 通过突变表型推断
22547407 GOA
involved in vesicle budding from membrane IMP
IMP: 通过突变表型推断
15075231 GOA
involved in vesicle uncoating IMP
IMP: 通过突变表型推断
15075231 GOA
involved in vesicle-mediated transport IDA
IDA: 通过直接分析推断
11563910 GOA
involved in viral budding from plasma membrane IMP
IMP: 通过突变表型推断
16193069 GOA
involved in viral budding via host ESCRT complex IGI
IGI: 通过遗传相互作用推断
24107264 GOA
involved in viral release from host cell IMP
IMP: 通过突变表型推断
11595185 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Flemming body IDA
IDA: 通过直接分析推断
20616062 GOA
located in centrosome IDA
IDA: 通过直接分析推断
20616062 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
11563910 GOA
located in early endosome IDA
IDA: 通过直接分析推断
15075231 GOA
located in endosome IDA
IDA: 通过直接分析推断
17940959 GOA
located in endosome membrane IMP
IMP: 通过突变表型推断
18606141 GOA
located in late endosome IDA
IDA: 通过直接分析推断
15075231 GOA
located in midbody IDA
IDA: 通过直接分析推断
17853893 GOA
located in nucleus IDA
IDA: 通过直接分析推断
20616062 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
11563910 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
17940959 GOA
located in spindle pole IDA
IDA: 通过直接分析推断
20616062 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

VPS4A 蛋白结构

MIT

MIT: MIT (microtubule interacting and transport) domain (6 - 74)

AAA

AAA: ATPase family associated with various cellular activities (AAA) (163 - 293)

Vps4_C

Vps4_C: Vps4 C terminal oligomerisation domain (374 - 434)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 437 a.a.
蛋白主名 其他名称

vacuolar protein sorting-associated protein 4A

SKD1-homolog

VPS4A 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra VPS4A Q9UN37 CHMP1A Homo sapiens Q9HD42
Anti Tag CoIP
33961781
Intra VPS4A Q9UN37 CHMP1A Homo sapiens Q9HD42
Anti Tag CoIP
35271311
Intra VPS4A Q9UN37 CHMP1A Homo sapiens Q9HD42
Y2H
16730941
Intra VPS4A Q9UN37 CHMP1B Homo sapiens Q7LBR1
Y2H
16730941
Intra VPS4A Q9UN37 CHMP2A Homo sapiens O43633
Anti Tag CoIP
35271311
Intra VPS4A Q9UN37 CFTR Homo sapiens P13569
Ub Reconstruction
35156780
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Cimdag Syndrome

Cerebellar Hypoplasia-Intellectual Disability-Congenital Microcephaly-Dystonia-Anemia-Growth Retardation Syndrome

CIMDAG

Cerebellar Hypoplasia, Cataracts, Impaired Intellectual Development, Congenital Microcephaly, Dystonia, Dyserythropoietic Anemia, And Growth Retardation
Congenital Dyserythropoietic Anemia

Congenital Dyshaematopoietic Anaemia

Dyserythropoietic Anemia, Congenital

Cda

Anemia, Dyserythropoietic, Congenital

Anemia Dyserythropoietic Congenital

Cda - [Congenital Dyserythropoietic Anaemia]

Dyserythropoietic Dyshaematopoietic Congenital Anaemia

Dyshaematopoietic Anaemia

Dyserythropoietic Anaemia
Pontocerebellar Hypoplasia, Type 8

Pontocerebellar Hypoplasia Type 8

PCH8

Pontocerebellar Hypoplasia Due To Chmp1a Mutation

Pontocerebellar Hypoplasia 8

Hypoplasia, Pontocerebellar, Type 8
Meckel Syndrome, Type 6

Meckel Syndrome 6

MKS6

Meckel-Gruber Syndrome, Type 6
Developmental And Epileptic Encephalopathy 33

DEE33

Epileptic Encephalopathy, Early Infantile, 33

Eiee33

Developmental And Epileptic Encephalopathy, 33

Early Infantile Epileptic Encephalopathy 33

Encephalopathy, Epileptic, Early Infantile, Type 33
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7

Ftd3

Frontotemporal Dementia, Chromosome 3-Linked

Amyotrophic Lateral Sclerosis, Chmp2b-Related

Chromosome 3-Linked Frontotemporal Dementia

FTDALS7

Chmp2b-Related Frontotemporal Dementia

Amyotrophic Lateral Sclerosis 17, Formerly

Als17, Formerly

Amyotrophic Lateral Sclerosis Type 17

Dtm1

Ftd-3

Ftd-Chmp2b

Als17

Amyotrophic Lateral Sclerosis 17

Sclerosis, Lateral, Amyotrophic, Type 17

Dementia, Frontotemporal, Chromosome 3-Linked
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15693 VPS4A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus VPS4A MGD MGI:1890520
Felis catus VPS4A VGNC VGNC:110164
Rattus norvegicus VPS4A RGD RGD:628810
Canis familiaris VPS4A VGNC VGNC:110108
Bos taurus VPS4A VGNC VGNC:110076
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