1. Gene
  2. ATP6V0A1 - ATPase H+ transporting V0 subunit a1 Gene

ATP6V0A1 - ATPase H+ transporting V0 subunit a1 Gene

中文名称:ATPase H+ 转运 V0 亚基 a1

种属: Homo sapiens

同用名: a1; Stv1; VPP1; Vph1; ATP6N1; DEE104; NEDEBA; ATP6N1A

基因 ID: 535 | 基因类型: protein coding

关于 ATP6V0A1

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:42,458,878-42,522,579 (from NCBI)

This gene has 40 transcripts (splice variants), 278 orthologues, 3 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 46.5), kidney (RPKM 12.3) and 23 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 亚基蛋白的其他同种型由多个基因或选择性剪接的转录变体编码。该基因编码以下三种之一 A 亚基蛋白和编码的蛋白与网格蛋白包被的囊泡相关。已发现该基因编码不同亚型的三种转录变体。[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 one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ATP6V0A1 基因产物(31)

mRNA Protein Name
NM_001130020.3 NP_001123492.1 V-type proton ATPase 116 kDa subunit a 1 isoform 2
NM_001130021.3 NP_001123493.1 V-type proton ATPase 116 kDa subunit a 1 isoform 1
NM_001378522.1 NP_001365451.1 V-type proton ATPase 116 kDa subunit a 1 isoform 4
NM_001378523.1 NP_001365452.1 V-type proton ATPase 116 kDa subunit a 1 isoform 5
NM_001378530.1 NP_001365459.1 V-type proton ATPase 116 kDa subunit a 1 isoform 6
NM_001378531.1 NP_001365460.1 V-type proton ATPase 116 kDa subunit a 1 isoform 7
NM_001378532.1 NP_001365461.1 V-type proton ATPase 116 kDa subunit a 1 isoform 8
NM_001378533.1 NP_001365462.1 V-type proton ATPase 116 kDa subunit a 1 isoform 9
NM_001378534.1 NP_001365463.1 V-type proton ATPase 116 kDa subunit a 1 isoform 10
NM_001378535.1 NP_001365464.1 V-type proton ATPase 116 kDa subunit a 1 isoform 11
NM_001378536.1 NP_001365465.1 V-type proton ATPase 116 kDa subunit a 1 isoform 12
NM_001378537.1 NP_001365466.1 V-type proton ATPase 116 kDa subunit a 1 isoform 13
NM_001378538.1 NP_001365467.1 V-type proton ATPase 116 kDa subunit a 1 isoform 14
NM_001378539.1 NP_001365468.1 V-type proton ATPase 116 kDa subunit a 1 isoform 15
NM_001378540.1 NP_001365469.1 V-type proton ATPase 116 kDa subunit a 1 isoform 16
NM_001378541.1 NP_001365470.1 V-type proton ATPase 116 kDa subunit a 1 isoform 17
NM_001378542.1 NP_001365471.1 V-type proton ATPase 116 kDa subunit a 1 isoform 18
NM_001378543.1 NP_001365472.1 V-type proton ATPase 116 kDa subunit a 1 isoform 19
NM_001378544.1 NP_001365473.1 V-type proton ATPase 116 kDa subunit a 1 isoform 20
NM_001378545.1 NP_001365474.1 V-type proton ATPase 116 kDa subunit a 1 isoform 21
NM_001378546.1 NP_001365475.1 V-type proton ATPase 116 kDa subunit a 1 isoform 22
NM_001378547.1 NP_001365476.1 V-type proton ATPase 116 kDa subunit a 1 isoform 23
NM_001378548.1 NP_001365477.1 V-type proton ATPase 116 kDa subunit a 1 isoform 24
NM_001378549.1 NP_001365478.1 V-type proton ATPase 116 kDa subunit a 1 isoform 25
NM_001378550.1 NP_001365479.1 V-type proton ATPase 116 kDa subunit a 1 isoform 26
NM_001378551.1 NP_001365480.1 V-type proton ATPase 116 kDa subunit a 1 isoform 27
NM_001378552.1 NP_001365481.1 V-type proton ATPase 116 kDa subunit a 1 isoform 28
NM_001378554.1 NP_001365483.1 V-type proton ATPase 116 kDa subunit a 1 isoform 29
NM_001378556.1 NP_001365485.1 V-type proton ATPase 116 kDa subunit a 1 isoform 30
NM_001378557.1 NP_001365486.1 V-type proton ATPase 116 kDa subunit a 1 isoform 31
NM_005177.5 NP_005168.2 V-type proton ATPase 116 kDa subunit a 1 isoform 3
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 ATPase binding IPI
IPI: 通过物理相互作用推断
17360703 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
7896830 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of macroautophagy IMP
IMP: 通过突变表型推断
22982048 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
33065002 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
17360703 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

ATP6V0A1 蛋白结构

V_ATPase_I

V_ATPase_I: V-type ATPase 116kDa subunit family (26 - 828)

  • 0
  • 200
  • 400
  • 600
  • 837 a.a.
蛋白主名 其他名称

V-type proton ATPase 116 kDa subunit a 1

ATPase, H+ transporting, lysosomal V0 subunit a1

ATP6V0A1 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
Cross ATP6V0A1 Q93050 E5 Human papillomavirus P06927
CoIP
7896830
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
Developmental And Epileptic Encephalopathy 104

DEE104

Neurodevelopmental Disorder With Epilepsy And Brain Atrophy

NEDEBA

Aceruloplasminemia

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Hypotonia
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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 ATP6V0A1 VGNC VGNC:70188
Felis catus ATP6V0A1 VGNC VGNC:68712
Mus musculus ATP6V0A1 MGD MGI:103286
Bos taurus ATP6V0A1 VGNC VGNC:26307
Rattus norvegicus ATP6V0A1 RGD RGD:68405
Canis familiaris ATP6V0A1 VGNC VGNC:38268