2. Gene
  3. ATP6V1A - ATPase H+ transporting V1 subunit A Gene

ATP6V1A - ATPase H+ transporting V1 subunit A Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：ATPase H+ 转运 V1 亚基 A

种属: Homo sapiens

同用名: HO68; VA68; VPP2; Vma1; DEE93; ARCL2D; ATP6A1; IECEE3; ATP6V1A1

基因 ID: 523 | 基因类型: protein coding

关于 ATP6V1A

Cytogenetic location: 3q13.31 Genomic coordinates (GRCh38): 3:113,747,035-113,812,056 (from NCBI)

This gene has 14 transcripts (splice variants), 286 orthologues, 4 paralogues and is associated with 6 phenotypes. Ubiquitous expression in brain (RPKM 61.4), kidney (RPKM 46.5) 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。这种编码的蛋白是其中一种两个 V1 结构域 A 亚基同种型，存在于所有组织中。存在衍生自替代聚腺苷酸化的转录变体。[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 encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008]

ATP6V1A 基因产物(1)

mRNA Protein Name
NM_001690.4 NP_001681.2 V-type proton ATPase catalytic subunit A
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
23035048 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to increased oxygen levels IMP
IMP: 通过突变表型推断
28296633 GOA
involved in intracellular iron ion homeostasis IMP
IMP: 通过突变表型推断
28296633 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 secretory granule IDA
IDA: 通过直接分析推断
23035048 GOA
part of vacuolar proton-transporting V-type ATPase, V1 domain IDA
IDA: 通过直接分析推断
33065002 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

ATP6V1A 蛋白结构

ATP-synt_ab_N

ATP-synt_ab_N: ATP synthase alpha/beta family, beta-barrel domain (22 - 83)

ATP-synt_ab

ATP-synt_ab: ATP synthase alpha/beta family, nucleotide-binding domain (229 - 455)

ATP-synt_ab_C

ATP-synt_ab_C: ATP synthase alpha/beta chain, C terminal domain (475 - 616)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 617 a.a.
蛋白主名 其他名称

V-type proton ATPase catalytic subunit A

ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A

ATP6V1A 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
种属间
ATP6V1A P38606 M Rabies virus P0DOF2
Anti Bait CoIP
33208464
种属间
ATP6V1A P38606 M Rabies virus P0DOF2
Anti Tag CoIP
33208464
种属间: 跨种属相互作用 种属内: 同种属相互作用

ATP6V1A 抗体

目录号 产品名 应用 反应物种
HY-P82466 ATP6V1A Antibody (YA2211) WB, IHC-P, IP Human, Mouse, Rat

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 93

Epileptic Encephalopathy, Infantile Or Early Childhood, 3

DEE93

IECEE3

Infantile Or Early Childhood Epileptic Encephalopathy 3
Cutis Laxa, Autosomal Recessive, Type Iid

ARCL2D

Autosomal Recessive Cutis Laxa Type Iid

Autosomal Recessive Cutis Laxa Type 2d

Cutis Laxa, Autosomal Recessive, 2d
Autosomal Recessive Cutis Laxa Type Ii Classic Type

Arcl2, Classic Type

Arcl2, Debre Type

Autosomal Recessive Cutis Laxa Type 2, Classic Type

Autosomal Recessive Cutis Laxa Type 2, Debre Type
Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee
Rabies

Lyssa

Hydrophobia

St Hubert Disease
Encephalopathy

Brain Diseases

Encephalopathies

Toxic Encephalopathy

Toxic Brain Fever

Toxic Brain Inflammation

Toxic Brain Stem Inflammation

Toxic Cerebral Fever

Toxic Cerebrospinal Fever

Toxic Cerebrospinal Inflammation

Encephalopathy Nec

Encephalopathy Nos

Encephalopathy Disease

Encephalopathy Syndrome
Histoplasmosis

Darling Disease

Reticuloendotheliosis, X-Linked

Infection By Histoplasma Capsulatum

Histoplasma Infection

Reticuloendothelial Cytomycosis

Cytomycosis

Darling Histoplasmosis

African Histoplasmosis

Histoplasmosis Duboisii
Cutis Laxa

Generalized Elastolysis

Loose Skin

Dermatolysis

Dermatomegaly

Cutis Laxa Syndrome
Baylisascariasis

Infection By Baylisascaris
Chromosome 3q13.31 Deletion Syndrome

3q13 Microdeletion Syndrome

Monosomy 3q13

Chromosome 3, Monosomy 3q13

Del(3)(Q13)
Tinea Nigra

Microsporosis Nigra

Infection By Cladosporium Werneckii

Keratomycosis Nigricans

Tinea Palmaris Nigra

Keratomycosis Nigricans Palmaris
Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii

CDG2E

Congenital Disorder Of Glycosylation Type Iie

IMD47

Cdg2s

Cdg Iis

Cdgiis

Immunodeficiency And Hepatopathy With Or Without Neurologic Features

Congenital Disorder Of Glycosylation, Type Ii

CDG1I

Congenital Disorder Of Glycosylation, Type Iie

Cdg Iie

Congenital Disorder Of Glycosylation Type 2e

Congenital Disorder Of Glycosylation, Type Iis

Cdg Ii

Cdgii

Cdgiie

Carbohydrate Deficient Glycoprotein Syndrome Type Iie

Cdg Syndrome Type Iie

Congenital Disorder Of Glycosylation Ii

Congenital Disorder Of Glycosylation 1i

Cdg-Iie

Alg2-Cdg

Cdg-Ii

Glycosylation, Congenital Disorder Of, Type Ii

Cdgiide

Congenital Disorder Of Glycosylation Type Iis

Cog7-Cdg

Cdg Syndrome Type Ii

Carbohydrate Deficient Glycoprotein Syndrome Type Ii

Congenital Disorder Of Glycosylation Type 1i

Mannosyltransferase 2 Deficiency

Congenital Disorder Of Glycosylation 2e

Congenital Disorder Of Glycosylation 2s

Congenital Disorders Of Glycosylation Type Ii

Glycosylation, Congenital Disorder Of, Type Iie

Immunodeficiency, Type 47

Congenital Disorder Of Glycosylation Type 2a
Cutis Laxa, Autosomal Recessive, Type Iia

ARCL2A

Cutis Laxa With Joint Laxity And Retarded Development

Cutis Laxa With Growth And Developmental Delay

Cutis Laxa, Debre Type

Cutis Laxa With Bone Dystrophy

Arcl2

Cutis Laxa With Congenital Disorder Of Glycosylation

Autosomal Recessive Cutis Laxa Type Iia

Cutis Laxa, Autosomal Recessive Type 2a

Cutis Laxa, Autosomal Recessive, 2a

Cl Type Iia

Cutis Laxa Autosomal Recessive Type Iia
Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma
Geroderma Osteodysplasticum

Gerodermia Osteodysplastica

Geroderma Osteodysplastica

GO

Walt Disney Dwarfism

Type Of Gerodermia Osteodysplastica
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

相关产品

Pre-clinical Phase
生物活性分子 (5)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-128892 EN6 Activator 99.42% 否
HY-RS29446 ATP6V1A Monkey Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS01223 ATP6V1A Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS18574 Atp6v1a Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS25058 Atp6v1a Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus ATP6V1A VGNC VGNC:68660
Canis familiaris ATP6V1A VGNC VGNC:38276
Mus musculus ATP6V1A MGD MGI:1201780
Bos taurus ATP6V1A VGNC VGNC:26316
Rattus norvegicus ATP6V1A RGD RGD:1596464
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