MDH1 - malate dehydrogenase 1 Gene

Also Known as KAR; MDHA; MOR2; DEE88; MDH-s; EIEE88; HEL-S-32; MGC:1375

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4190

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables L-malate dehydrogenase (NAD+) activity	EXP EXP: Inferred from Experiment	3052244	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in NADH metabolic process	IDA IDA: Inferred from direct assay	34547241	GOA
involved in NADP metabolic process	IDA IDA: Inferred from direct assay	34547241	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	34547241	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MDH1 Protein Structure

Ldh_1_N

Ldh_1_C

0
100
200
300
334 a.a.

Protein Preferred Names	Protein Names
malate dehydrogenase, cytoplasmic malate dehydrogenase, peroxisomal	aromatic alpha-keto acid reductase

Protein Preferred Names

Protein Names

malate dehydrogenase, cytoplasmic

malate dehydrogenase, peroxisomal

aromatic alpha-keto acid reductase

MDH1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	MDH1	P40925	TERF1	Homo sapiens	P54274	Pull Down	21044950

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant MDH1 Proteins

Cat. No.	Nom du produit	Accession	Pureté
HY-P70349	MDH1 Protein, Human (His)	P40925-1 (S2-A334)	≥ 95%, as determined by reducing SDS-PAGE.

MDH1 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P82337	MDH1 Antibody (YA2082)	WB, ICC/IF, IP, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-147791	MDH1-IN-2	Inhibitor	98.70%	Unkown
HY-147790	MDH1-IN-1	Inhibitor	99.97%	Unkown
HY-W613220	MDH1/2-IN-1	Inhibitor	99.53%	Unkown
HY-RS08260	MDH1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16793	Mdh1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17185	Me1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23233	Mdh1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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