1. Gene
  2. ATP6V1F - ATPase H+ transporting V1 subunit F Gene

ATP6V1F - ATPase H+ transporting V1 subunit F Gene

中文名称:ATPase H+ 转运 V1 亚基 F

种属: Homo sapiens

同用名: VATF; Vma7; ATP6S14

基因 ID: 9296 | 基因类型: protein coding

关于 ATP6V1F

Cytogenetic location: 7q32.1 Genomic coordinates (GRCh38): 7:128,862,856-128,865,847 (from NCBI)

This gene has 2 transcripts (splice variants) and 195 orthologues. Ubiquitous expression in kidney (RPKM 97.5), brain (RPKM 77.0) and 25 other tissues.

功能概要

该基因编码液泡 ATP 酶 (V-ATPase) 的一个组分,这是一种介导真核细胞内细胞器酸化的多亚基酶。 V-ATPase 依赖性细胞器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选择性剪接的转录变体编码。这种编码的蛋白是 V1 结构域 F 亚基蛋白。[RefSeq 提供,2008 年 7 月]

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit Enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle 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 the V1 domain F subunit protein. [provided by RefSeq, Jul 2008]

ATP6V1F 基因产物(2)

mRNA Protein Name
NM_001198909.2 NP_001185838.1 V-type proton ATPase subunit F isoform 2
NM_004231.4 NP_004222.2 V-type proton ATPase subunit F isoform 1

ATP6V1F 蛋白结构

ATP-synt_F

ATP-synt_F: ATP synthase (F/14-kDa) subunit (8 - 107)

  • 0
  • 100
  • 119 a.a.
蛋白主名 其他名称

V-type proton ATPase subunit F

ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F

重组 ATP6V1F 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76159 ATP6V1F Protein, Human (GST) Q16864 (M1-R119) ≥95%

关联疾病

疾病名称 别名
Cardiomyopathy, Dilated, 1m

Dilated Cardiomyopathy 1m

CMD1M

Cardiomyopathy, Dilated 1m

Cardiomyopathy, Dilated, Type 1m

Hermansky-Pudlak Syndrome 3

HPS3

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Delta Storage Pool Disease

Hermansky-Pudlak Syndrome, Type 3

Platelet Storage Pool Deficiency

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Non-Syndromic X-Linked Intellectual Disability 2

Mrx2

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 ATP6V1F VGNC VGNC:38282
Felis catus ATP6V1F VGNC VGNC:60025
Mus musculus ATP6V1F MGD MGI:1913394
Rattus norvegicus ATP6V1F RGD RGD:621552
Bos taurus ATP6V1F VGNC VGNC:107217
Others ATP6V1F NCBI