2. Gene
  3. VPS41 - VPS41 subunit of HOPS complex Gene

VPS41 - VPS41 subunit of HOPS complex Gene

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

中文名称：HOPS 复合体的 VPS41 亚基

种属: Homo sapiens

同用名: HVPS41; HVSP41; SCAR29; hVps41p

基因 ID: 27072 | 基因类型: protein coding

关于 VPS41

Cytogenetic location: 7p14.1 Genomic coordinates (GRCh38): 7:38,722,974-38,909,191 (from NCBI)

This gene has 14 transcripts (splice variants), 209 orthologues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 18.7), gall bladder (RPKM 13.0) and 25 other tissues.

功能概要

囊泡介导的蛋白质分选在将细胞内分子分离到不同的细胞器中起着重要作用。酵母的遗传研究已经确定了 40 多个液泡蛋白分选 (VPS) 基因参与囊泡向液泡的运输。该基因编码酵母 Vps41 蛋白的人类直系同源物，该蛋白在果蝇、番茄和拟南芥中也是保守的。在酵母和人类中的表达研究表明，该蛋白质可能参与高尔基体运输囊泡的形成和融合。已经为该基因描述了编码不同同种型的几种转录变体，但是，并非所有的全长性质都是已知的。[RefSeq 提供，2008 年 7 月]

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008]

VPS41 基因产物(2)

mRNA Protein Name
NM_014396.4 NP_055211.2 vacuolar protein sorting-associated protein 41 homolog isoform 1
NM_080631.4 NP_542198.2 vacuolar protein sorting-associated protein 41 homolog isoform 2
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 identical protein binding IPI
IPI: 通过物理相互作用推断
24210660 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19109425 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi vesicle transport IMP
IMP: 通过突变表型推断
11412045 GOA
involved in endosomal vesicle fusion IMP
IMP: 通过突变表型推断
23167963 GOA
involved in endosome to lysosome transport IMP
IMP: 通过突变表型推断
25783203 GOA
involved in late endosome to lysosome transport IMP
IMP: 通过突变表型推断
23167963 GOA
involved in vesicle-mediated transport IMP
IMP: 通过突变表型推断
33851776 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of AP-3 adaptor complex IDA
IDA: 通过直接分析推断
21411634 GOA
located in Golgi-associated vesicle IMP
IMP: 通过突变表型推断
11412045 GOA
part of HOPS complex IDA
IDA: 通过直接分析推断
19109425 GOA
part of HOPS complex IMP
IMP: 通过突变表型推断
33851776 GOA
part of clathrin complex IDA
IDA: 通过直接分析推断
21411634 GOA
located in clathrin-coated vesicle IDA
IDA: 通过直接分析推断
21411634 GOA
located in cytosol IDA
IDA: 通过直接分析推断
11412045 GOA
located in endosome membrane IDA
IDA: 通过直接分析推断
21411634 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
21802320 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
23167963 GOA
located in lysosome IDA
IDA: 通过直接分析推断
21802320 GOA
located in membrane IDA
IDA: 通过直接分析推断
11412045 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

VPS41 蛋白结构

Clathrin

Clathrin: Region in Clathrin and VPS (573 - 710)

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

vacuolar protein sorting-associated protein 41 homolog

S53

VPS41 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 VPS41 P49754 VPS18 Homo sapiens Q9P253
Anti Tag CoIP
33961781
Intra VPS41 P49754 VPS18 Homo sapiens Q9P253
Anti Tag CoIP
35271311
Intra VPS41 P49754 VPS11 Homo sapiens Q9H270
Anti Tag CoIP
33961781
Intra VPS41 P49754 VPS11 Homo sapiens Q9H270
Anti Tag CoIP
25500191
Intra VPS41 P49754 PLEKHM1 Homo sapiens Q9Y4G2
Anti Tag CoIP
25500191
Intra VPS41 P49754 STX17 Homo sapiens P56962
Anti Tag CoIP
33422265
Intra VPS41 P49754 VIPAS39 Homo sapiens Q9H9C1
Anti Tag CoIP
19109425
Intra VPS41 P49754 VIPAS39 Homo sapiens Q9H9C1
Anti Bait CoIP
19109425
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
Spinocerebellar Ataxia, Autosomal Recessive 29

SCAR29

Barakat-Van Ham-Kaya Syndrome

Bavahaka

Neurodevelopmental Disorder With Hypotonia And Cerebellar Ataxia

Nedhca

Spinocerebellar Ataxia, Autosomal Recessive, 29
Spinocerebellar Ataxia, Autosomal Recessive 4

SCAR4

Scasi

Spinocerebellar Ataxia With Saccadic Intrusions

Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome

Spinocerebellar Ataxia 24

Autosomal Recessive Spinocerebellar Ataxia 4

Sca24

Spinocerebellar Ataxia 24, Formerly

Sca24, Formerly

Spinocerebellar Ataxia Autosomal Recessive 4

Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Chromosome 1q21.1 Duplication Syndrome

1q21.1 Microduplication Syndrome

Trisomy 1q21.1

1q21.1 Duplication Syndrome

1q21.1 Microduplication

1q21.1 Duplication

Dup(1)(Q21.1)
Atypical Neurofibroma
Cockayne Syndrome A

Cockayne Syndrome Type 1

Cockayne Syndrome, Type A

Cockayne Syndrome Type I

CSA

Cockayne Syndrome Classic Form

Cockayne Syndrome Classical

Cockayne Syndrome Type A

Ckn1
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
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-RS15691 VPS41 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus VPS41 RGD RGD:1560511
Canis familiaris VPS41 VGNC VGNC:48291
Macaca mulatta VPS41 VGNC VGNC:78776
Felis catus VPS41 VGNC VGNC:66968
Mus musculus VPS41 MGD MGI:1929215
Bos taurus VPS41 VGNC VGNC:36823
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