1. Gene
  2. IDH3A - isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha Gene

IDH3A - isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha Gene

中文名称:异柠檬酸脱氢酶 (NAD (+) ) 3 催化亚基 α

种属: Homo sapiens

同用名: RP90

基因 ID: 3419 | 基因类型: protein coding

关于 IDH3A

Cytogenetic location: 15q25.1 Genomic coordinates (GRCh38): 15:78,149,362-78,171,945 (from NCBI)

This gene has 24 transcripts (splice variants), 259 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 59.2), adrenal (RPKM 37.1) and 25 other tissues.

功能概要

异柠檬酸脱氢酶催化异柠檬酸氧化脱羧为 2-酮戊二酸。这些酶属于两个不同的亚类,其中一个使用 NAD (+) 作为电子受体,另一个使用 NADP (+) 。已报道了五种异柠檬酸脱氢酶:三种 NAD (+) 依赖性异柠檬酸脱氢酶,定位于线粒体基质,以及两种 NADP (+) 依赖性异柠檬酸脱氢酶,其中一种是线粒体,另一种主要是细胞溶质。 NAD (+) 依赖性异柠檬酸脱氢酶催化三羧酸循环的变构调节限速步骤。每一种同功酶都是由两个α亚基、一个β亚基和一个γ亚基组成的异四聚体。该基因编码的蛋白质是 NAD (+) 依赖性异柠檬酸脱氢酶的一种同工酶的 α 亚基。[RefSeq 提供,2008 年 7 月]

Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These Enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the alpha subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. [provided by RefSeq, Jul 2008]

IDH3A 基因产物(1)

mRNA Protein Name
NM_005530.3 NP_005521.1 isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial precursor
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 isocitrate dehydrogenase (NAD+) activity EXP
EXP: 通过实验结果推断
4336621 GOA
enables isocitrate dehydrogenase (NAD+) activity IDA
IDA: 通过直接分析推断
28098230 GOA
enables magnesium ion binding IDA
IDA: 通过直接分析推断
28098230 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
14555658 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in tricarboxylic acid cycle IDA
IDA: 通过直接分析推断
14555658 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of isocitrate dehydrogenase complex (NAD+) IDA
IDA: 通过直接分析推断
14555658 GOA
part of isocitrate dehydrogenase complex (NAD+) IPI
IPI: 通过物理相互作用推断
14555658 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

IDH3A 蛋白结构

Iso_dh

Iso_dh: Isocitrate/isopropylmalate dehydrogenase (33 - 358)

  • 0
  • 100
  • 200
  • 300
  • 366 a.a.
蛋白主名 其他名称

isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial

H-IDH alpha

IDH3A 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 IDH3A P50213 IDH3G Homo sapiens P51553
GMS
14555658
Intra IDH3A P50213 IDH3G Homo sapiens P51553
Ion Exchange Chrom
14555658
Intra IDH3A P50213 IDH3G Homo sapiens P51553
X-Ray Diffraction
28098230
Intra IDH3A P50213 IDH3G Homo sapiens P51553
Anti Tag CoIP
33961781
Intra IDH3A P50213 IDH3G Homo sapiens P51553
Anti Tag CoIP
28514442
Intra IDH3A P50213 IDH3G Homo sapiens P51553
Reverse Phase Chrom
14555658
Intra IDH3A P50213 SHMT1 Homo sapiens P34896
Anti Bait CoIP
30613765
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
Retinitis Pigmentosa 90

RP90

Retinitis Pigmentosa, Type 90

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Juxtacortical Chondroma

Periosteal Chondroma

2-Hydroxyglutaric Aciduria

2-Hga

2-Hydroxyglutaric Acidemia

2-Hydroxyglutaricaciduria

Combined D-2- And L-2-Hydroxyglutaric Aciduria

D-2-Hydroxyglutaric Aciduria 1

D-2-Hydroxyglutaric Aciduria

D2HGA1

D-2-Hga

D-2-Hydroxyglutaric Acidemia

D2ha

D2hga

Aciduria, D-2-Hydroxyglutaric, Type 1

Combined D-2- And L-2-Hydroxyglutaric Aciduria

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
Bos taurus IDH3A VGNC VGNC:53942
Felis catus IDH3A VGNC VGNC:104352
Mus musculus IDH3A MGD MGI:1915084
Rattus norvegicus IDH3A RGD RGD:70889
Canis familiaris IDH3A VGNC VGNC:53184
Macaca mulatta IDH3A VGNC VGNC:84352