1. Gene
  2. ATP5MC1 - ATP synthase membrane subunit c locus 1 Gene

ATP5MC1 - ATP synthase membrane subunit c locus 1 Gene

中文名称:ATP 合成酶膜亚基 c 位点 1

种属: Homo sapiens

同用名: ATP5A; ATP5G; ATP5G1

基因 ID: 516 | 基因类型: protein coding

关于 ATP5MC1

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:48,892,787-48,895,871 (from NCBI)

This gene has 10 transcripts (splice variants), 71 orthologues and 2 paralogues. Ubiquitous expression in heart (RPKM 134.4), colon (RPKM 81.3) and 24 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。质子通道似乎具有九个亚基 (a、b、c、d、e、f、g、F6 和 8) 。该基因是编码质子通道 c 亚基的三个基因之一。这三个基因中的每一个都有不同的线粒体输入序列,但编码相同的成熟蛋白质。已经鉴定出编码相同蛋白质的可变剪接转录物变体。[RefSeq 提供,2008 年 7 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 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

ATP5MC1 基因产物(2)

mRNA Protein Name
NM_001002027.2 NP_001002027.1 ATP synthase F(0) complex subunit C1, mitochondrial precursor
NM_005175.3 NP_005166.1 ATP synthase F(0) complex subunit C1, mitochondrial precursor
基因本体论
  • 分子功能
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
25416956 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

ATP5MC1 蛋白结构

ATP-synt_C

ATP-synt_C: ATP synthase subunit C (68 - 135)

  • 0
  • 100
  • 136 a.a.
蛋白主名 其他名称

ATP synthase F(0) complex subunit C1, mitochondrial

ATP synthase lipid-binding protein, mitochondrial

ATP5MC1 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 ATP5MC1 P05496 TRIM69 Homo sapiens Q86WT6-2
Y2H Prey Pooling
32296183
Intra ATP5MC1 P05496 TRIM69 Homo sapiens Q86WT6-2
Validated Y2H
32296183
Intra ATP5MC1 P05496 TRIM69 Homo sapiens Q86WT6-2
Y2H Array
32296183
Intra ATP5MC1 P05496 TRIM69 Homo sapiens Q86WT6
Y2H Array
31515488
Intra ATP5MC1 P05496 TRIM69 Homo sapiens Q86WT6
Y2H Array
25416956
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
Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration

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 ATP5MC1 MGD MGI:107653
Rattus norvegicus ATP5MC1 RGD RGD:61933
Canis familiaris ATP5MC1 VGNC VGNC:51924