2. Gene
  3. VPS50 - VPS50 subunit of EARP/GARPII complex Gene

VPS50 - VPS50 subunit of EARP/GARPII complex Gene

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

中文名称：EARP/GARPII 复合体的 VPS50 亚基

种属: Homo sapiens

同用名: NEDMSC; VPS54L; CCDC132

基因 ID: 55610 | 基因类型: protein coding

关于 VPS50

Cytogenetic location: 7q21.2-q21.3 Genomic coordinates (GRCh38): 7:93,232,366-93,361,123 (from NCBI)

This gene has 21 transcripts (splice variants), 216 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 5.6), thyroid (RPKM 4.2) and 25 other tissues.

功能概要

启用 SNARE 绑定活动。作用于内吞循环的上游或内。位于回收核内体。 EARP 复合体的一部分。 [由基因组资源联盟提供，2022 年 4 月]

Enables SNARE binding activity. Acts upstream of or within endocytic recycling. Located in recycling endosome. Part of EARP complex. [provided by Alliance of Genome Resources, Apr 2022]

VPS50 基因产物(3)

mRNA Protein Name
NM_001257998.2 NP_001244927.1 syndetin isoform c
NM_017667.4 NP_060137.2 syndetin isoform a
NM_024553.3 NP_078829.1 syndetin 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 SNARE binding IDA
IDA: 通过直接分析推断
25799061 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
3172165 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within endocytic recycling IDA
IDA: 通过直接分析推断
25799061 GOA
involved in endocytic recycling IMP
IMP: 通过突变表型推断
25799061 GOA
NOT involved in retrograde transport, endosome to Golgi IMP
IMP: 通过突变表型推断
25799061 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of EARP complex IDA
IDA: 通过直接分析推断
25799061 GOA
part of EARP complex IPI
IPI: 通过物理相互作用推断
25799061 GOA
located in recycling endosome IDA
IDA: 通过直接分析推断
25799061 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

VPS50 蛋白结构

Vps54_N

Vps54_N: Vacuolar-sorting protein 54, of GARP complex (54 - 345)

DUF2451

DUF2451: Protein of unknown function C-terminus (DUF2451) (723 - 958)

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

syndetin

EARP/GARPII complex subunit VPS50

VPS50 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 VPS50 Q96JG6 VPS51 Homo sapiens Q9UID3-1
Pull Down
25799061
Intra VPS50 Q96JG6 VPS51 Homo sapiens Q9UID3-1
Anti Bait CoIP
25799061
Intra VPS50 Q96JG6 VPS51 Homo sapiens Q9UID3-1
TAP
25799061
Intra VPS50 Q96JG6 VPS52 Homo sapiens Q8N1B4
Anti Tag CoIP
26496610
Intra VPS50 Q96JG6 VPS52 Homo sapiens Q8N1B4
Anti Bait CoIP
25799061
Intra VPS50 Q96JG6 VPS52 Homo sapiens Q8N1B4
Anti Tag CoIP
33961781
Intra VPS50 Q96JG6 VPS52 Homo sapiens Q8N1B4
Pull Down
25799061
Intra VPS50 Q96JG6 VPS52 Homo sapiens Q8N1B4
TAP
25799061
Intra VPS50 Q96JG6 VPS52 Homo sapiens Q8N1B4
Anti Tag CoIP
28514442
Intra VPS50 Q96JG6 VPS53 Homo sapiens Q5VIR6
Anti Tag CoIP
33961781
Intra VPS50 Q96JG6 VPS53 Homo sapiens Q5VIR6
Pull Down
25799061
Intra VPS50 Q96JG6 VPS53 Homo sapiens Q5VIR6
Anti Bait CoIP
25799061
Intra VPS50 Q96JG6 VPS53 Homo sapiens Q5VIR6
TAP
25799061
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
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis

NEDMSC
Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2

Pontocerebellar Hypoplasia Type 2e

Pch2

PCH2E

Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy

Pontocerebellar Hypoplasia 2e

Pcca2

Progressive Cerebello-Cerebral Atrophy Type 2

Doid:0112328

Hypoplasia, Pontocerebellar, Type 2e

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2a
Cholestasis

Obstruction Of Bile Duct

Bile Duct Obstruction

Bile Occlusion

Extrahepatic Biliary Obstruction

Extrahepatic Bile Duct Obstruction

Bile Stasis

Biliary Stasis

Obstructive Hyperbilirubinemia

Obstructed Jaundice

Bile Duct Obstructed

Bile Ductal Obstruction

Biliary Duct Obstruction

Obstructed Bile Ductal

Obstructed Biliary Duct

Obstructed Biliary Ductal

Jaundice Regurgitation

Obstructive Jaundice

Cholestatic Jaundice

Cholestatic Jaundice Syndrome
Western Equine Encephalitis

Western Equine Encephalomyelitis

Wee

Encephalomyelitis, Western Equine

Western Equine Encephalitis Virus Infection

Wee - [Western Equine Encephalitis]

Western Equine Encephalitis Virus
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-RS15695 VPS50 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta VPS50 VGNC VGNC:79561
Rattus norvegicus VPS50 RGD RGD:1304751
Felis catus VPS50 VGNC VGNC:66971
Bos taurus VPS50 VGNC VGNC:36826
Mus musculus VPS50 MGD MGI:1920538
Canis familiaris VPS50 VGNC VGNC:48294
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