1. Gene
  2. ATP6V1G2 - ATPase H+ transporting V1 subunit G2 Gene

ATP6V1G2 - ATPase H+ transporting V1 subunit G2 Gene

中文名称:ATPase H+ 转运 V1 亚基 G2

种属: Homo sapiens

同用名: NG38; ATP6G; VMA10; ATP6G2

基因 ID: 534 | 基因类型: protein coding

关于 ATP6V1G2

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:31,544,444-31,546,742 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele, 108 orthologues and 2 paralogues. Biased expression in brain (RPKM 100.0) and adrenal (RPKM 3.8).

功能概要

该基因编码液泡 ATP 酶 (V-ATPase) 的一个组分,这是一种多亚基酶,可介导真核细胞胞内区室的酸化。 V-ATPase 依赖性酸化对于蛋白质分选、酶原激活、受体介导的内吞作用和突触小泡质子梯度生成等细胞内过程是必需的。 V-ATPase 由胞质 V1 结构域和跨膜 V0 结构域组成。 V1 结构域由三个 A 和三个 B 亚基、两个 G 亚基以及 C、D、E、F 和 H 亚基组成。 V1 域包含 ATP 催化位点。 V0 结构域由五个不同的亚基组成:a、c、c'、c'' 和 d。许多 V1 和 V0 亚基蛋白的其他亚型由多个基因或剪接的转录变体编码。这种编码的蛋白质是三个 V1 结构域 G 亚基蛋白质之一。该基因之前的基因符号为 ATP6G 和 ATP6G2。已经描述了编码不同亚型的选择性剪接转录物变体。该基因与下游 DEAD (Asp-Glu-Ala-Asp) 盒多肽 39B (DDX39B) 基因之间也存在通读转录。[RefSeq 提供,2011 年 2 月]

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit Enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. [provided by RefSeq, Feb 2011]

ATP6V1G2 基因产物(3)

mRNA Protein Name
NM_001204078.2 NP_001191007.1 V-type proton ATPase subunit G 2 isoform c
NM_130463.4 NP_569730.1 V-type proton ATPase subunit G 2 isoform a
NM_138282.3 NP_612139.1 V-type proton ATPase subunit G 2 isoform b
基因本体论
  • 分子功能
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
32296183 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

ATP6V1G2 蛋白结构

V-ATPase_G

V-ATPase_G: Vacuolar (H+)-ATPase G subunit (3 - 106)

  • 0
  • 100
  • 118 a.a.
蛋白主名 其他名称

V-type proton ATPase subunit G 2

ATPase, H+ transporting, lysosomal (vacuolar proton pump)

ATP6V1G2 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
ATP6V1G2 O95670 ATP6V1E2 Homo sapiens Q96A05 32296183
种属内
ATP6V1G2 O95670 ATP6V1E2 Homo sapiens Q96A05 32296183
种属内
ATP6V1G2 O95670 ATP6V1E2 Homo sapiens Q96A05 32296183
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
Noonan Syndrome 9

NS9

Noonan Syndrome, Type 9

Distal Renal Tubular Acidosis

Classic Rta

Familial Distal Primary Acidosis

Renal Tubular Acidosis Type 1

Drta

Renal Tubular Acidosis, Distal

Noonan Syndrome 3

NS3

Noonan Syndrome, Type 3

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
Rattus norvegicus ATP6V1G2 RGD RGD:1303186
Felis catus ATP6V1G2 VGNC VGNC:102384
Mus musculus ATP6V1G2 MGD MGI:1913487
Bos taurus ATP6V1G2 VGNC VGNC:57164
Canis familiaris ATP6V1G2 VGNC VGNC:52107