1. Gene
  2. ATP6V1C1 - ATPase H+ transporting V1 subunit C1 Gene

ATP6V1C1 - ATPase H+ transporting V1 subunit C1 Gene

中文名称:ATPase H+ 转运 V1 亚基 C1

种属: Homo sapiens

同用名: VATC; Vma5; ATP6C; ATP6D

基因 ID: 528 | 基因类型: protein coding

关于 ATP6V1C1

Cytogenetic location: 8q22.3 Genomic coordinates (GRCh38): 8:103,021,083-103,073,051 (from NCBI)

This gene has 6 transcripts (splice variants), 278 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 32.3), thyroid (RPKM 16.6) and 24 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。该基因是编码 V1 结构域 C 亚基蛋白的两个基因之一,普遍存在。此 C 亚基与 F-ATP 酶的 γ 亚基类似但不同源。以前,该基因被命名为 ATP6D。[RefSeq 提供,2008 年 7 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 gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008]

ATP6V1C1 基因产物(1)

mRNA Protein Name
NM_001695.5 NP_001686.1 V-type proton ATPase subunit C 1
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
16415858 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

ATP6V1C1 蛋白结构

V-ATPase_C

V-ATPase_C: V-ATPase subunit C (4 - 370)

  • 0
  • 100
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  • 300
  • 382 a.a.
蛋白主名 其他名称

V-type proton ATPase subunit C 1

ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1

ATP6V1C1 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
ATP6V1C1 P21283 ARF6 Homo sapiens P62330
Anti Tag CoIP
16415858
种属内
ATP6V1C1 P21283 ARF6 Homo sapiens P62330
Anti Bait CoIP
16415858
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
Distal Renal Tubular Acidosis

Classic Rta

Familial Distal Primary Acidosis

Renal Tubular Acidosis Type 1

Drta

Renal Tubular Acidosis, Distal

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
Macaca mulatta ATP6V1C1 VGNC VGNC:70186
Felis catus ATP6V1C1 VGNC VGNC:68679
Bos taurus ATP6V1C1 VGNC VGNC:26319
Mus musculus ATP6V1C1 MGD MGI:1913585
Rattus norvegicus ATP6V1C1 RGD RGD:1311082
Canis familiaris ATP6V1C1 VGNC VGNC:38278