1. Gene
  2. VPS16 - VPS16 core subunit of CORVET and HOPS complexes Gene

VPS16 - VPS16 core subunit of CORVET and HOPS complexes Gene

中文名称:CORVET 和 HOPS 复合体的 VPS16 核心亚基

种属: Homo sapiens

同用名: DYT30; hVPS16

基因 ID: 64601 | 基因类型: protein coding

关于 VPS16

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:2,840,745-2,866,732 (from NCBI)

This gene has 8 transcripts (splice variants), 199 orthologues and is associated with 1 phenotype. Ubiquitous expression in appendix (RPKM 12.2), thyroid (RPKM 11.8) 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 C 类 Vps16 蛋白的人类同系物。哺乳动物 C 类 Vps 蛋白主要与晚期内体/溶酶体相关,并且像它们的酵母对应物一样,可能介导内体/溶酶体途径中的囊泡运输步骤。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2009 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 homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]

VPS16 基因产物(2)

mRNA Protein Name
NM_022575.4 NP_072097.2 vacuolar protein sorting-associated protein 16 homolog isoform 1
NM_080413.3 NP_536338.1 vacuolar protein sorting-associated protein 16 homolog isoform 3
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
11382755 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in autophagosome maturation IMP
IMP: 通过突变表型推断
25783203 GOA
involved in endosome to lysosome transport IMP
IMP: 通过突变表型推断
25783203 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 early endosome 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
11382755 GOA
located in lysosome IDA
IDA: 通过直接分析推断
11382755 GOA
located in recycling endosome IDA
IDA: 通过直接分析推断
19109425 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

VPS16 蛋白结构

Vps16_N

Vps16_N: Vps16, N-terminal region (4 - 420)

Vps16_C

Vps16_C: Vps16, C-terminal region (517 - 835)

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

vacuolar protein sorting-associated protein 16 homolog

VPS16, CORVET/HOPS core subunit

VPS16 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
VPS16 Q9H269 VPS18 Homo sapiens Q9P253 25783203
种属内
VPS16 Q9H269 VPS18 Homo sapiens Q9P253 11382755
种属内
VPS16 Q9H269 VPS18 Homo sapiens Q9P253 23901104
种属内
VPS16 Q9H269 VPS18 Homo sapiens Q9P253
Y2H
23901104
种属内
VPS16 Q9H269 VPS18 Homo sapiens Q9P253 26496610
种属内
VPS16 Q9H269 VPS33A Homo sapiens Q96AX1 25783203
种属内
VPS16 Q9H269 VPS33A Homo sapiens Q96AX1 35271311
种属内
VPS16 Q9H269 VPS33A Homo sapiens Q96AX1 23901104
种属内
VPS16 Q9H269 VPS33A Homo sapiens Q96AX1 33961781
种属内
VPS16 Q9H269 VPS33A Homo sapiens Q96AX1 26496610
种属内
VPS16 Q9H269 VPS33A Homo sapiens Q96AX1 33422265
种属内
VPS16 Q9H269 VPS33A Homo sapiens Q96AX1 23901104
种属内
VPS16 Q9H269 STX17 Homo sapiens P56962 24554770
种属内
VPS16 Q9H269 TGFBRAP1 Homo sapiens Q8WUH2 26496610
种属内
VPS16 Q9H269 VPS11 Homo sapiens Q9H270 26496610
种属内
VPS16 Q9H269 VPS11 Homo sapiens Q9H270 35271311
种属内
VPS16 Q9H269 VPS11 Homo sapiens Q9H270
Y2H
23901104
种属内
VPS16 Q9H269 VPS11 Homo sapiens Q9H270 11382755
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
Dystonia 30

DYT30

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Smith-Mccort Dysplasia 1

Smith-Mccort Dysplasia

SMC1

Smc

Smith Mccort Dysplasia

Smith-Mccort Dwarfism

Neuropathy, Hereditary Sensory And Autonomic, Type Iia

Hereditary Sensory And Autonomic Neuropathy Type 2

Hsan2

HSAN2A

Morvan Disease

Hereditary Sensory And Autonomic Neuropathy Type Ii

Neurogenic Acroosteolysis

Hsan Iia

Hsn2a

Hsn Iia

Neuropathy, Progressive Sensory, Of Children

Neuropathy, Congenital Sensory

Neuropathy, Hereditary Sensory And Autonomic, Type Ii

Hereditary Sensory And Autonomic Neuropathy Type 2a

Hereditary Sensory And Autonomic Neuropathy Type Iia

Hsanii

Congenital Sensory Neuropathy

Hsan Type Ii

Morvan Syndrome

Neuropathy, Hereditary Sensory And Autonomic, Type 2a

Morvan'S Disease

Neuropathy, Hereditary Sensory, Type Iia

Acroosteolysis, Neurogenic

Acroosteolysis, Giaccai Type

Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive

Hereditary Sensory Autonomic Neuropathy Type 2

Giaccai Type Acroosteolysis

Hereditary Sensory Neuropathy Type 2

Hereditary Sensory Radicular Neuropathy, Recessive Form

Hsan2b

Hsan2c

Hsan2d

Hsn Type Ii

Autosomal Recessive Sensory Radicular Neuropathy

Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome

Morvan Fibrillary Chorea

Neuropathy, Hereditary Sensory And Autonomic, 2a

Acroosteolysis Giaccai Type

Hereditary Sensory Neuropathy Type Iia

Hereditary Sensory Radicular Neuropathy Autosomal Recessive

Progressive Sensory Neuropathy Of Children

Neuropathy Congenital Sensory

Charcot-Marie-Tooth Disease

Neuropathy, Sensory And Autonomic, Hereditary, Type Iia

Hereditary Sensory Autonomic Neuropathy, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

Sensory Neuropathy, Hereditary

Neuropathy, Hereditary Sensory And Autonomic, Type Iib

Arthrogryposis, Renal Dysfunction, And Cholestasis 1

Arc Syndrome

ARCS1

Arthrogryposis Renal Dysfunction Cholestasis Syndrome

Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

Arcs

Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome

Arthrogryposis, Renal Dysfunction, And Cholestasis

Arthrogryposis-Renal Dysfunction-Cholestasis

Arthrogryposis - Renal Dysfunction - Cholestasis

Arthrogryposis Multiplex Congenita, Renal Dysfunction, And Cholestasis

Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome 1

Arthrogryposis Renal Dysfunction And Cholestasis 1

Arthrogryposis With Renal Dysfunction And Cholestasis Syndrome

Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1

Kidney Failure

Renal Insufficiency

Dyggve-Melchior-Clausen Disease

Dyggve-Melchior-Clausen Syndrome

DMC

Dmc Disease

Pseudo-Morquio Disease Type I

Dmc Syndrome

Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

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
Felis catus VPS16 VGNC VGNC:66958
Rattus norvegicus VPS16 RGD RGD:1359414
Bos taurus VPS16 VGNC VGNC:36811
Mus musculus VPS16 MGD MGI:2136772
Canis familiaris VPS16 VGNC VGNC:48278
Macaca mulatta VPS16 VGNC VGNC:78966