1. Gene
  2. VPS39 - VPS39 subunit of HOPS complex Gene

VPS39 - VPS39 subunit of HOPS complex Gene

中文名称:HOPS 复合体的 VPS39 亚基

种属: Homo sapiens

同用名: TLP; VAM6; hVam6p

基因 ID: 23339 | 基因类型: protein coding

关于 VPS39

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:42,158,701-42,208,304 (from NCBI)

This gene has 14 transcripts (splice variants), 210 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 16.3), thyroid (RPKM 14.7) and 25 other tissues.

功能概要

该基因编码的蛋白质可促进晚期内体和溶酶体的聚集和融合。该蛋白质还可以作为衔接蛋白,通过将转化生长因子-β 受体复合物偶联到 Smad 通路来调节转化生长因子-β 反应。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 7 月]

This gene encodes a protein that may promote clustering and fusion of late endosomes and lysosomes. The protein may also act as an adaptor protein that modulates the transforming growth factor-beta response by coupling the transforming growth factor-beta receptor complex to the Smad pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

VPS39 基因产物(2)

mRNA Protein Name
NM_001301138.3 NP_001288067.1 vam6/Vps39-like protein isoform a
NM_015289.5 NP_056104.2 vam6/Vps39-like protein isoform b
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
23901104 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in autophagosome-lysosome fusion IDA
IDA: 通过直接分析推断
33422265 GOA
involved in autophagy IMP
IMP: 通过突变表型推断
24554770 GOA
involved in endocytic recycling IMP
IMP: 通过突变表型推断
25266290 GOA
involved in endosomal vesicle fusion IDA
IDA: 通过直接分析推断
23167963 GOA
involved in endosome to lysosome transport IMP
IMP: 通过突变表型推断
25266290 GOA
involved in late endosome to lysosome transport IDA
IDA: 通过直接分析推断
23167963 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of HOPS complex IDA
IDA: 通过直接分析推断
19109425 GOA
located in late endosome IDA
IDA: 通过直接分析推断
33422265 GOA
located in late endosome membrane IDA
IDA: 通过直接分析推断
23167963 GOA
part of lysosomal HOPS complex IDA
IDA: 通过直接分析推断
33422265 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
23167963 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

VPS39 蛋白结构

CNH

CNH: CNH domain (20 - 290)

Vps39_1

Vps39_1: Vacuolar sorting protein 39 domain 1 (460 - 562)

Vps39_2

Vps39_2: Vacuolar sorting protein 39 domain 2 (772 - 879)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 886 a.a.
蛋白主名 其他名称

vam6/Vps39-like protein

TRAP1-like protein

VPS39 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
种属内
VPS39 Q96JC1 VPS18 Homo sapiens Q9P253
Anti Tag CoIP
33422265
种属内
VPS39 Q96JC1 RAB7A Homo sapiens P51149
Anti Tag CoIP
33947832
种属间
VPS39 Q96JC1 ap3a_sars2 SARS-CoV-2 P0DTC3
Anti Tag CoIP
34706264
种属间
VPS39 Q96JC1 ap3a_sars2 SARS-CoV-2 P0DTC3
Anti Tag CoIP
33947832
种属间
VPS39 Q96JC1 ap3a_sars2 SARS-CoV-2 P0DTC3
Confocal
34706264
种属间
VPS39 Q96JC1 ap3a_sars2 SARS-CoV-2 P0DTC3
Pull Down
33947832
种属内
VPS39 Q96JC1 STX17 Homo sapiens P56962
Anti Tag CoIP
24554770
种属内
VPS39 Q96JC1 STX17 Homo sapiens P56962
Anti Tag CoIP
33422265
种属内
VPS39 Q96JC1 VPS11 Homo sapiens Q9H270
Anti Tag CoIP
35271311
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
Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy

CNM1

Centronuclear Myopathy 1

Ad-Cnm

Myopathy, Centronuclear, Autosomal Dominant

Myotubular Myopathy, Autosomal Dominant

Centronuclear Myopathy, Autosomal, Modifier Of

Autosomal Dominant Myotubular Myopathy

Dnm2-Related Centronuclear Myopathy

Centronuclear Myopathy Autosomal Dominant

Myopathies, Structural, Congenital

Myopathy, Centronuclear, Type 1

Hermansky-Pudlak Syndrome 5

HPS5

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Delta Storage Pool Disease

Hermansky-Pudlak Syndrome, Type 5

Platelet Storage Pool Deficiency

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Dystonia 12

DYT12

Rdp

Generalized Dystonia

Dystonia-12

Rapid-Onset Dystonia-Parkinsonism

Familial Dystonia

Dystonia Musculorum Deformans

Dystonic Disorders

Idiopathic Familial Dystonia

Dystonia-Parkinsonism, Rapid-Onset

Fragments Of Torsion Dystonia

Dyt-Atp1a3

Rapid-Onset Dystonia Parkinsonism

Rodp

Dystonia, Type 12

Dystonia 3, Torsion, X-Linked

Idiopathic Non-Familial Dystonia

Symptomatic Torsion Dystonia

Dystonia Disorders

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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris VPS39 VGNC VGNC:48290
Bos taurus VPS39 VGNC VGNC:36822
Macaca mulatta VPS39 VGNC VGNC:79257
Mus musculus VPS39 MGD MGI:2443189
Felis catus VPS39 VGNC VGNC:66967
Rattus norvegicus VPS39 RGD RGD:1304858