2. Gene
  3. MDH1 - malate dehydrogenase 1 Gene

MDH1 - malate dehydrogenase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：苹果酸脱氢酶 1

种属: Homo sapiens

同用名: KAR; MDHA; MOR2; DEE88; MDH-s; EIEE88; HEL-S-32; MGC:1375

基因 ID: 4190 | 基因类型: protein coding

关于 MDH1

Cytogenetic location: 2p15 Genomic coordinates (GRCh38): 2:63,588,963-63,607,197 (from NCBI)

This gene has 16 transcripts (splice variants), 301 orthologues, 1 paralogue and is associated with 1 phenotype. Broad expression in heart (RPKM 313.6), fat (RPKM 131.4) and 24 other tissues.

功能概要

该基因编码一种酶，该酶在许多代谢途径 (包括柠檬酸循环) 中催化依赖于 NAD/NADH 的苹果酸向草酰乙酸的可逆氧化。已知真核细胞中存在两种主要的同工酶：一种存在于线粒体基质中，另一种存在于细胞质中。该基因编码细胞溶质同工酶，它在苹果酸-天冬氨酸穿梭中起着关键作用，它允许苹果酸穿过线粒体膜，转化为草酰乙酸，用于进一步的细胞过程。已发现该基因的可变剪接转录物变体。最近的一项研究表明，通过终止密码子通读机制使用替代的框内翻译终止密码子，可以产生 C 末端扩展的同种型，并且这种同种型位于过氧化物酶体中。已在 X 和 6 号染色体上鉴定出假基因。[RefSeq 提供，2016 年 2 月]

This gene encodes an Enzyme that catalyzes the NAD/NADH-dependent, reversible oxidation of malate to oxaloacetate in many metabolic pathways, including the citric acid cycle. Two main isozymes are known to exist in eukaryotic cells: one is found in the mitochondrial matrix and the Other in the cytoplasm. This gene encodes the cytosolic isozyme, which plays a key role in the malate-aspartate shuttle that allows malate to pass through the mitochondrial membrane to be transformed into oxaloacetate for further cellular processes. Alternatively spliced transcript variants have been found for this gene. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Pseudogenes have been identified on chromosomes X and 6. [provided by RefSeq, Feb 2016]

MDH1 基因产物(4)

mRNA Protein Name
NM_001199111.2 NP_001186040.1 malate dehydrogenase, cytoplasmic isoform 2
NM_001199112.2 NP_001186041.1 malate dehydrogenase, cytoplasmic isoform 3
NM_001316374.2 NP_001303303.1 malate dehydrogenase, peroxisomal isoform MDH1x
NM_005917.4 NP_005908.1 malate dehydrogenase, cytoplasmic isoform MDH1
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 L-malate dehydrogenase (NAD+) activity EXP
EXP: 通过实验结果推断
3052244 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21044950 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in NADH metabolic process IDA
IDA: 通过直接分析推断
34547241 GOA
involved in NADP metabolic process IDA
IDA: 通过直接分析推断
34547241 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
34547241 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

MDH1 蛋白结构

Ldh_1_N

Ldh_1_N: lactate/malate dehydrogenase, NAD binding domain (6 - 152)

Ldh_1_C

Ldh_1_C: lactate/malate dehydrogenase, alpha/beta C-terminal domain (156 - 330)

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

malate dehydrogenase, cytoplasmic

malate dehydrogenase, peroxisomal

aromatic alpha-keto acid reductase

MDH1 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
MDH1 P40925 TERF1 Homo sapiens P54274
Pull Down
21044950
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 MDH1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70349 MDH1 Protein, Human (His) P40925-1 (S2-A334) ≥95%

MDH1 抗体

目录号 产品名 应用 反应物种
HY-P82337 MDH1 Antibody (YA2082) WB, ICC/IF, IP, FC Human, Mouse, Rat

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 88

DEE88

Epileptic Encephalopathy, Early Infantile, 88

Eiee88

Early Infantile Epileptic Encephalopathy 88

Developmental And Epileptic Encephalopathy, 88
Developmental And Epileptic Encephalopathy 39

Hypomyelination, Global Cerebral

Agc1 Deficiency

Epileptic Encephalopathy, Early Infantile, 39

DEE39

Eiee39

Aspartate-Glutamate Carrier 1 Deficiency

Epileptic Encephalopathy With Global Cerebral Demyelination

Developmental And Epileptic Encephalopathy, 39

Early Infantile Epileptic Encephalopathy 39

Mitochondrial Aspartate-Glutamate Carrier 1 Deficiency

Global Cerebral Hypomyelination

Hereditary Central Nervous System Demyelinating Diseases
Immunodeficiency 24

Severe Combined Immunodeficiency Due To Ctps1 Deficiency

IMD24

Scid Due To Ctps1 Deficiency

Immunodeficiency, Type 24
Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
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
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-147791 MDH1-IN-2 98.70% 否
HY-147790 MDH1-IN-1 99.36% 否
HY-RS08260 MDH1 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 MDH1 MGD MGI:97051
Canis familiaris MDH1 VGNC VGNC:43103
Felis catus MDH1 VGNC VGNC:68220
Macaca mulatta MDH1 VGNC VGNC:74690
Rattus norvegicus MDH1 RGD RGD:3072
Bos taurus MDH1 VGNC VGNC:31333
Others MDH1 NCBI
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