1. Gene
  2. ATP5F1D - ATP synthase F1 subunit delta Gene

ATP5F1D - ATP synthase F1 subunit delta Gene

中文名称:ATP 合酶 F1 亚基δ

种属: Homo sapiens

同用名: ATP5D; MC5DN5

基因 ID: 513 | 基因类型: protein coding

关于 ATP5F1D

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:1,241,751-1,244,825 (from NCBI)

This gene has 9 transcripts (splice variants), 199 orthologues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 30.9), colon (RPKM 30.8) 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δ亚基。已经鉴定出编码相同亚型的可变剪接转录本变体。[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 consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]

ATP5F1D 基因产物(2)

mRNA Protein Name
NM_001001975.2 NP_001001975.1 ATP synthase subunit delta, mitochondrial precursor
NM_001687.5 NP_001678.1 ATP synthase subunit delta, mitochondrial precursor

ATP5F1D 蛋白结构

ATP-synt_DE_N

ATP-synt_DE_N: ATP synthase, Delta/Epsilon chain, beta-sandwich domain (38 - 119)

  • 0
  • 100
  • 168 a.a.
蛋白主名 其他名称

ATP synthase subunit delta, mitochondrial

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

重组 ATP5F1D 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72097 ATP5D Protein, Human (His-SUMO) P30049 (A23-E168) ≥95%
HY-P72098 ATP5D Protein, Human (His) P30049 (A23-E168) ≥95%

关联疾病

疾病名称 别名
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

Isolated Atp Synthase Deficiency

Isolated Mitochondrial Respiratory Chain Complex V Deficiency

Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder

3-Methylglutaconic Aciduria

3-Methyl Glutaconic Aciduria

Ciliary Dyskinesia, Primary, 30

Primary Ciliary Dyskinesia 30

CILD30

Ciliary Dyskinesia, Primary, 30, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 30 Without Situs Inversus

Primary Ciliary Dyskinesia 30 With Or Without Situs Inversus

Dyskinesia, Ciliary, Primary, Type 30

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

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
Felis catus ATP5F1D VGNC VGNC:102003
Rattus norvegicus ATP5F1D RGD RGD:621372
Macaca mulatta ATP5F1D VGNC VGNC:108475
Canis familiaris ATP5F1D VGNC VGNC:38264
Mus musculus ATP5F1D MGD MGI:1913293
Bos taurus ATP5F1D VGNC VGNC:26302