1. Gene
  2. ATP6V1C2 - ATPase H+ transporting V1 subunit C2 Gene

ATP6V1C2 - ATPase H+ transporting V1 subunit C2 Gene

中文名称:ATPase H+ 转运 V1 亚基 C2

种属: Homo sapiens

同用名: VMA5; ATP6C2

基因 ID: 245973 | 基因类型: protein coding

关于 ATP6V1C2

Cytogenetic location: 2p25.1 Genomic coordinates (GRCh38): 2:10,720,943-10,785,110 (from NCBI)

This gene has 5 transcripts (splice variants), 196 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 47.0), skin (RPKM 40.5) 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、三个 B 和两个 G 亚基以及一个 C、D、E、F 和 H 亚基组成。 V1 域包含 ATP 催化位点。该基因编码交替转录剪接变体,编码不同的 V1 结构域 C 亚基亚型。[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,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008]

ATP6V1C2 基因产物(3)

mRNA Protein Name
NM_001039362.2 NP_001034451.1 V-type proton ATPase subunit C 2 isoform a
NM_001410707.1 NP_001397636.1 V-type proton ATPase subunit C 2 isoform c
NM_144583.4 NP_653184.2 V-type proton ATPase subunit C 2 isoform b

ATP6V1C2 蛋白结构

V-ATPase_C

V-ATPase_C: V-ATPase subunit C (4 - 417)

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  • 427 a.a.
蛋白主名 其他名称

V-type proton ATPase subunit C 2

ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2

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
Canis familiaris ATP6V1C2 VGNC VGNC:38279
Bos taurus ATP6V1C2 VGNC VGNC:26320
Macaca mulatta ATP6V1C2 VGNC VGNC:70091
Rattus norvegicus ATP6V1C2 RGD RGD:1359430
Felis catus ATP6V1C2 VGNC VGNC:60023
Mus musculus ATP6V1C2 MGD MGI:1916025