ATP5F1E - ATP synthase F1 subunit epsilon Gene

中文名称：ATP 合酶 F1 亚基ε

种属: Homo sapiens

同用名: ATPE; ATP5E; MC5DN3

基因 ID: 514 | 基因类型: protein coding

关于 ATP5F1E

Cytogenetic location: 20q13.32 Genomic coordinates (GRCh38): 20:59,025,475-59,032,335 (from NCBI)

This gene has 3 transcripts (splice variants), 123 orthologues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 289.1), fat (RPKM 288.7) and 25 other tissues.

功能概要

该基因编码线粒体 ATP 合酶的一个亚基。线粒体 ATP 合酶催化 ATP 合成，利用氧化磷酸化过程中跨内膜的质子电化学梯度。 ATP 合酶由两个连接的多亚基复合物组成：可溶性催化核心 F1 和跨膜成分 Fo，构成质子通道。线粒体 ATP 合酶的催化部分由 5 个不同的亚基 (alpha、beta、gamma、delta 和 epsilon) 组成，其化学计量为 3 个 alpha、3 个 beta 和其他 3 个的单一代表。质子通道由三个组成主要亚基 (a、b、c) 。该基因编码催化核心的 epsilon 亚基。该基因的两个假基因位于 4 号和 13 号染色体上。包含该基因外显子的通读转录本由上游基因 SLMO2 表达。[RefSeq 提供，2011 年 3 月]

This gene encodes a subunit of mitochondrial ATP Synthase. Mitochondrial ATP Synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during Oxidative Phosphorylation. ATP Synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP Synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the Other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011]

ATP5F1E 基因产物(1)

mRNA	Protein	Name
NM_006886.4	NP_008817.1	ATP synthase subunit epsilon, mitochondrial

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	28514442	GOA
contributes to proton-transporting ATP synthase activity, rotational mechanism	IDA IDA: 通过直接分析推断	12110673	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in proton motive force-driven mitochondrial ATP synthesis	IDA IDA: 通过直接分析推断	12110673	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of proton-transporting ATP synthase complex	IDA IDA: 通过直接分析推断	12110673	GOA
part of proton-transporting ATP synthase complex, catalytic core F(1)	IMP IMP: 通过突变表型推断	20566710	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

ATP5F1E 蛋白结构

ATP-synt_Eps

0
51 a.a.

蛋白主名

其他名称

ATP synthase subunit epsilon, mitochondrial

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit

ATP5F1E 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
种属内	ATP5F1E	P56381	AGTRAP	Homo sapiens	Q6RW13-2	Y2H Prey Pooling	32296183
种属内	ATP5F1E	P56381	AGTRAP	Homo sapiens	Q6RW13-2	Validated Y2H	32296183
种属内	ATP5F1E	P56381	AGTRAP	Homo sapiens	Q6RW13-2	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

Mitochondrial Complex V Deficiency, Nuclear Type 3

Mitochondrial Complex Iii Deficiency Nuclear Type 5	MC5DN3
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Mitochondrial Complex V Deficiency Nuclear Type 3
MC3DN5	Mitochondrial Complex V Deficiency, Atp5e Type
Mitochondrial Complex Iii Deficiency, Nuclear 5	Mitochondrial Complex V Deficiency, Nuclear Type 3
Mitochondrial Complex V Deficiency Atp5e Type	Mitochondrial Complex V Deficiency Type 3
Mitochondrial Complex V Deficiency, Nuclear, Type 3

Isolated Atp Synthase Deficiency

Isolated Mitochondrial Respiratory Chain Complex V Deficiency

Mitochondrial Complex V Deficiency, Nuclear Type 5

Mitochondrial Complex V Deficiency	MC5DN5
Mitochondrial Complex V Deficiency, Atp5f1d Type	Mitochondrial Complex V Deficiency
Mitochondrial Complex 5 Deficiency Nuclear Type 5	Complex 5 Mitochondrial Respiratory Chain Deficiency
Atp Synthase Deficiency	Mitochondrial Complex V Deficiency, Nuclear Type 5
Complex V Deficiency

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Glycogen Storage Disease Xv

GSD15	Gsd Xv
Glycogenin Deficiency	Gyg1 Deficiency
Glycogen Storage Disease Type Xv	Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Gsd Type 15	Gsd Type Xv
Gsd With Severe Cardiomyopathy Due To Glycogenin Deficiency	Glycogen Storage Disease Type 15
Glycogenosis Type 15	Glycogenosis Type Xv
Glycogenosis With Severe Cardiomyopathy Due To Glycogenin Deficiency	Glycogen Storage Disease 15
Storage Disease, Glycogen, Type Xv

3-Methylglutaconic Aciduria

3-Methyl Glutaconic Aciduria

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy	3-Methylglutaconic Aciduria Type 3
Costeff Syndrome	Mga3
Costeff Optic Atrophy Syndrome	Optic Atrophy Plus Syndrome
Infantile Optic Atrophy With Chorea And Spastic Paraplegia	3-Methylglutaconic Aciduria Type Iii
Autosomal Recessive Optic Atrophy Plus Syndrome	Autosomal Recessive Optic Atrophy Type 3
Opa3 Defect	MGCA3
Mga, Type Iii	Iraqi Jewish Optic Atrophy Plus
Mga Type Iii	Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
Iraqi-Jewish 'Optic Atrophy Plus'	Optic Atrophy 3, Autosomal Recessive
Opa3, Autosomal Recessive	Opa3-Related 3-Methylglutaconic Aciduria
Iraqi-Jewish Optic Atrophy Plus	Atrophy Of Optic Disc
3-Alpha Methylglutaconic Aciduria Type Iii	Optic Atrophy 3
Optic Atrophy Infantile With Chorea And Spastic Paraplegia	Autosomal Recessive Opa3
Autosomal Recessive Optic Atrophy 3	3-Methylglutaconic Aciduria 3
3-Alpha-Methylglutaconic Aciduria Type 3	Optic Atrophy 3 Autosomal Recessive
Atrophy, Optic	Atrophy, Optic, Plus Syndrome
Optic Nerve Atrophy	Primary Optic Atrophy
Oa - [Optic Atrophy]	Second Cranial Nerve Atrophy
Second Cranium Nerve Atrophy

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS01206	ATP5F1E Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	ATP5F1E	RGD	RGD:621374
Mus musculus	ATP5F1E	MGD	MGI:1855697

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

ATP5F1E - ATP synthase F1 subunit epsilon Gene

关于 ATP5F1E

功能概要

ATP5F1E 基因产物(1)

ATP5F1E 蛋白结构

ATP5F1E 蛋白互作信息

关联疾病

直系同源

热门区域

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ATP5F1E - ATP synthase F1 subunit epsilon Gene

关于 ATP5F1E

功能概要

ATP5F1E 基因产物(1)

ATP5F1E 蛋白结构

ATP5F1E 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z