2. Gene
  3. ATP6V1E1 - ATPase H+ transporting V1 subunit E1 Gene

ATP6V1E1 - ATPase H+ transporting V1 subunit E1 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 E1

种属: Homo sapiens

同用名: P31; Vma4; ATP6E; ARCL2C; ATP6E2; ATP6V1E

基因 ID: 529 | 基因类型: protein coding

关于 ATP6V1E1

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:17,592,136-17,628,822 (from NCBI)

This gene has 9 transcripts (splice variants), 282 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 104.5), kidney (RPKM 73.8) 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 E 亚基亚型。该基因的假基因已在基因组中被发现。[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 E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]

ATP6V1E1 基因产物(3)

mRNA Protein Name
NM_001039366.1 NP_001034455.1 V-type proton ATPase subunit E 1 isoform b
NM_001039367.1 NP_001034456.1 V-type proton ATPase subunit E 1 isoform c
NM_001696.4 NP_001687.1 V-type proton ATPase subunit E 1 isoform a
基因本体论
  • 分子功能
  • 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
20717956 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11399750 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
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

ATP6V1E1 蛋白结构

vATP-synt_E

vATP-synt_E: ATP synthase (E/31 kDa) subunit (18 - 216)

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

V-type proton ATPase subunit E 1

ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1

关联疾病

疾病名称 别名
Cutis Laxa, Autosomal Recessive, Type Iic

ARCL2C

Autosomal Recessive Cutis Laxa Type 2c

Autosomal Recessive Cutis Laxa Type Iic

Cutis Laxa, Autosomal Recessive, 2c

Cutis Laxa Autosomal Recessive, Type Iic
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
Cutis Laxa

Generalized Elastolysis

Loose Skin

Dermatolysis

Dermatomegaly

Cutis Laxa Syndrome
Cutis Laxa, Autosomal Recessive, Type Iid

ARCL2D

Autosomal Recessive Cutis Laxa Type Iid

Autosomal Recessive Cutis Laxa Type 2d

Cutis Laxa, Autosomal Recessive, 2d
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
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 Dominant 3

ADCL3

Autosomal Dominant Cutis Laxa 3

Cutis Laxa, Autosomal Dominant, 3
Cutis Laxa, Autosomal Recessive, Type Iib

ARCL2B

Cutis Laxa With Progeroid Features

Autosomal Recessive Cutis Laxa Type 2b

Autosomal Recessive Cutis Laxa Type Iib

Arcl2, Progeroid Type

Cutis Laxa, Autosomal Recessive Type 2b

Autosomal Recessive Cutis Laxa Type 2, Progeroid Type

Cutis Laxa, Autosomal Recessive, 2b

Cl Type Iib

Cutis Laxa Autosomal Recessive Type Iib

Cutis Laxa, Autosomal Recessive, Type 2b
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01229 ATP6V1E1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus ATP6V1E1 MGD MGI:894326
Felis catus ATP6V1E1 VGNC VGNC:83506
Rattus norvegicus ATP6V1E1 RGD RGD:735157
Bos taurus ATP6V1E1 VGNC VGNC:26322
Macaca mulatta ATP6V1E1 VGNC VGNC:103791
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