1. Gene
  2. ATP6V1D - ATPase H+ transporting V1 subunit D Gene

ATP6V1D - ATPase H+ transporting V1 subunit D Gene

中文名称:ATPase H+ 转运 V1 亚基 D

种属: Homo sapiens

同用名: VATD; VMA8; ATP6M

基因 ID: 51382 | 基因类型: protein coding

关于 ATP6V1D

Cytogenetic location: 14q23.3 Genomic coordinates (GRCh38): 14:67,337,872-67,359,804 (from NCBI)

This gene has 14 transcripts (splice variants) and 227 orthologues. Ubiquitous expression in adrenal (RPKM 49.7), brain (RPKM 46.5) 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 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。该基因编码 V1 结构域 D 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 gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008]

ATP6V1D 基因产物(1)

mRNA Protein Name
NM_015994.4 NP_057078.1 V-type proton ATPase subunit D
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
18752060 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cilium assembly IMP
IMP: 通过突变表型推断
21844891 GOA
involved in protein localization to cilium IMP
IMP: 通过突变表型推断
21844891 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with centrosome IDA
IDA: 通过直接分析推断
21844891 GOA
colocalizes with cilium IDA
IDA: 通过直接分析推断
21844891 GOA
located in membrane IDA
IDA: 通过直接分析推断
18752060 GOA
part of proton-transporting V-type ATPase complex IDA
IDA: 通过直接分析推断
18752060 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

ATP6V1D 蛋白结构

ATP-synt_D

ATP-synt_D: ATP synthase subunit D (14 - 208)

  • 0
  • 100
  • 200
  • 247 a.a.
蛋白主名 其他名称

V-type proton ATPase subunit D

ATPase, H+ transporting lysosomal, member M

ATP6V1D 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
Intra ATP6V1D Q9Y5K8 HAUS1 Homo sapiens Q96CS2
Y2H Prey Pooling
32296183
Intra ATP6V1D Q9Y5K8 HAUS1 Homo sapiens Q96CS2
Y2H Array
32296183
Intra ATP6V1D Q9Y5K8 VPS52 Homo sapiens Q8N1B4
Y2H Prey Pooling
25416956
Intra ATP6V1D Q9Y5K8 VPS52 Homo sapiens Q8N1B4
Y2H Array
25416956
Intra ATP6V1D Q9Y5K8 VPS52 Homo sapiens Q8N1B4
Y2H Prey Pooling
32296183
Intra ATP6V1D Q9Y5K8 VPS52 Homo sapiens Q8N1B4
Y2H Array
32296183
Intra ATP6V1D Q9Y5K8 KRT27 Homo sapiens Q7Z3Y8
Y2H Prey Pooling
32296183
Intra ATP6V1D Q9Y5K8 KRT27 Homo sapiens Q7Z3Y8
Y2H Array
32296183
Intra ATP6V1D Q9Y5K8 ATP6V1F Homo sapiens Q16864
Anti Tag CoIP
33961781
Intra ATP6V1D Q9Y5K8 BBLN Homo sapiens Q9BUW7
Y2H Prey Pooling
32296183
Intra ATP6V1D Q9Y5K8 BBLN Homo sapiens Q9BUW7
Anti Tag CoIP
33961781
Intra ATP6V1D Q9Y5K8 BBLN Homo sapiens Q9BUW7
MAPPIT
32296183
Intra ATP6V1D Q9Y5K8 BBLN Homo sapiens Q9BUW7
Y2H Array
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
Cerebritis
N Syndrome

NSX

Intellectual Disability, Malformations, Chromosome Breakage, And Development Of T-Cell Leukemia

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
Mus musculus ATP6V1D MGD MGI:1921084
Rattus norvegicus ATP6V1D RGD RGD:735119
Macaca mulatta ATP6V1D VGNC VGNC:70060
Bos taurus ATP6V1D VGNC VGNC:26321
Canis familiaris ATP6V1D VGNC VGNC:38280
Felis catus ATP6V1D VGNC VGNC:81032