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Aliases for MDH1 Gene

Aliases for MDH1 Gene

  • Malate Dehydrogenase 1 2 3 5
  • Malate Dehydrogenase 1, NAD (Soluble) 2 3
  • Malate Dehydrogenase, Cytoplasmic 3 4
  • Cytosolic Malate Dehydrogenase 3 4
  • Diiodophenylpyruvate Reductase 3 4
  • EC 4 56
  • MDHA 3 4
  • Epididymis Secretory Protein Li 32 3
  • Malate Dehydrogenase, Peroxisomal 3
  • Soluble Malate Dehydrogenase 3
  • EC 4
  • HEL-S-32 3
  • MGC:1375 3
  • MDH-S 3
  • MOR2 3

External Ids for MDH1 Gene

Previous GeneCards Identifiers for MDH1 Gene

  • GC02P063944
  • GC02P063773
  • GC02P063790
  • GC02P063727
  • GC02P063669

Summaries for MDH1 Gene

Entrez Gene Summary for MDH1 Gene

  • 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]

GeneCards Summary for MDH1 Gene

MDH1 (Malate Dehydrogenase 1) is a Protein Coding gene. Diseases associated with MDH1 include Retinitis Pigmentosa 28 and Bardet-Biedl Syndrome 5. Among its related pathways are Amino Acid metabolism and Glucose metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. An important paralog of this gene is MDH1B.

Additional gene information for MDH1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MDH1 Gene

Genomics for MDH1 Gene

GeneHancer (GH) Regulatory Elements for MDH1 Gene

Promoters and enhancers for MDH1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J063587 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 645.7 +0.8 767 6.4 SP1 CC2D1A ELF3 ZKSCAN8 SIX5 ZNF148 NKRF POLR2A CEBPG GTF2F1 MDH1 WDPCP VPS54 AFTPH PIR47439
GH02J063612 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 42 +25.7 25746 4.7 SP1 ELF3 CEBPG SP5 PRDM1 CEBPA CTBP1 POLR2A SOX13 SOX6 MDH1 WDPCP UGP2 PIR47439
GH02J063596 Enhancer 1 Ensembl ENCODE 42.8 +8.0 7991 2 ELF3 CEBPG TFE3 PPARG ZNF644 HMG20B CEBPA GATAD2A ATF7 RCOR2 MDH1 WDPCP PIR47439
GH02J063665 Enhancer 0.8 Ensembl ENCODE 44 +78.8 78819 3.9 SP1 RXRA ATF7 JUND YY1 ZBTB33 RAD21 HNF4A ATF2 MAX MDH1 WDPCP RPL27P6 RPS4XP5
GH02J063661 Enhancer 0.6 Ensembl ENCODE 43.2 +72.5 72452 1.7 HNF4G HNF4A MDH1 RPS4XP5 RPL27P6 WDPCP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MDH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MDH1 gene promoter:
  • CUTL1
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXO4
  • HNF-3beta
  • POU2F1
  • POU2F1a
  • SRY

Genomic Locations for MDH1 Gene

Genomic Locations for MDH1 Gene
18,589 bases
Plus strand
18,589 bases
Plus strand

Genomic View for MDH1 Gene

Genes around MDH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MDH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MDH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MDH1 Gene

Proteins for MDH1 Gene

  • Protein details for MDH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Malate dehydrogenase, cytoplasmic
    Protein Accession:
    Secondary Accessions:
    • B2R5V5
    • B4DUN2
    • B7Z3I7
    • F5H098
    • Q6I9V0

    Protein attributes for MDH1 Gene

    334 amino acids
    Molecular mass:
    36426 Da
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for MDH1 Gene


neXtProt entry for MDH1 Gene

Selected DME Specific Peptides for MDH1 Gene


Post-translational modifications for MDH1 Gene

  • ISGylated.
  • Acetylation at Lys-118 dramatically enhances enzymatic activity and promotes adipogenic differentiation.
  • Ubiquitination at isoforms=2, 3164, isoforms=2, 3214, isoforms=2, 3205, isoforms=2, 3298, isoforms=2, 3125, isoforms=2, 3142, posLast=318318, and isoforms=2, 3118
  • Modification sites at PhosphoSitePlus

Domains & Families for MDH1 Gene

Gene Families for MDH1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MDH1 Gene

GenScript: Design optimal peptide antigens:
  • Malate dehydrogenase (B4DUN2_HUMAN)
  • Malate dehydrogenase (C9JF79_HUMAN)
  • Malate dehydrogenase (F5H098_HUMAN)
  • Cytosolic malate dehydrogenase (MDHC_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the LDH/MDH superfamily. MDH type 2 family.
  • Belongs to the LDH/MDH superfamily. MDH type 2 family.
genes like me logo Genes that share domains with MDH1: view

Function for MDH1 Gene

Molecular function for MDH1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(S)-malate + NAD(+) = H(+) + NADH + oxaloacetate; Xref=Rhea:RHEA:21432, ChEBI:CHEBI:15378, ChEBI:CHEBI:15589, ChEBI:CHEBI:16452, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-(3,5-diiodo-4-hydroxyphenyl)lactate + NAD(+) = 3-(3,5-diiodo-4-hydroxyphenyl)pyruvate + H(+) + NADH; Xref=Rhea:RHEA:20293, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57647, ChEBI:CHEBI:57945, ChEBI:CHEBI:58023; EC=; Evidence=. ;.
GENATLAS Biochemistry:
malate dehydrogenase,NAD,soluble,same as KETAR (keto acid reductase,alpha-1)

Enzyme Numbers (IUBMB) for MDH1 Gene

Phenotypes From GWAS Catalog for MDH1 Gene

Gene Ontology (GO) - Molecular Function for MDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004470 malic enzyme activity TAS 8786100
GO:0005515 protein binding IPI 21044950
GO:0016491 oxidoreductase activity IEA --
GO:0016615 malate dehydrogenase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA --
genes like me logo Genes that share ontologies with MDH1: view
genes like me logo Genes that share phenotypes with MDH1: view

Animal Model Products

CRISPR Products

miRNA for MDH1 Gene

miRTarBase miRNAs that target MDH1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MDH1

Clone Products

  • Applied Biological Materials (abm): Clones for MDH1 - Now 50% OFF >
  • * MDH1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * MDH1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MDH1 Gene

Localization for MDH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MDH1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MDH1 gene
Compartment Confidence
cytosol 4
mitochondrion 3
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 1
plasma membrane 0
nucleus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Centrosome (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with MDH1: view

Pathways & Interactions for MDH1 Gene

genes like me logo Genes that share pathways with MDH1: view

Gene Ontology (GO) - Biological Process for MDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006094 gluconeogenesis TAS --
GO:0006099 tricarboxylic acid cycle IBA 21873635
GO:0006107 oxaloacetate metabolic process IBA 21873635
GO:0006108 malate metabolic process IBA 21873635
genes like me logo Genes that share ontologies with MDH1: view

No data available for SIGNOR curated interactions for MDH1 Gene

Drugs & Compounds for MDH1 Gene

(6) Drugs for MDH1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
2'-Monophosphoadenosine 5'-Diphosphoribose Experimental Pharma Target 0
Dihydroartemisinin Experimental, Investigational Pharma Target, ligand 105
NAD Experimental Pharma Full agonist, Agonist, Activator 0
malic acid Investigational Pharma Agonist, Activator 0

(11) Additional Compounds for MDH1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 3-(3,5-diiodo-4-Hydroxyphenyl)lactate
  • 3-(3,5-diiodo-4-Hydroxyphenyl)lactic acid
  • 3-(4-Hydroxy-3,5-diiodophenyl)lactate
  • 3,5-diiodo-4-Hydroxyphenylpyruvate
  • 3-(3,5-diiodo-4-Hydroxyphenyl)pyruvate
  • beta-(3,5-diiodo-4-Hydroxyphenyl)pyruvate
  • 3,5-diiodo-4-Hydroxyphenylpyruvic acid
  • (3,5-diiodo-4-Hydroxyphenyl)pyruvate
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
L-Malic acid
  • (-)-L-Malic acid
  • (S)-(-)-Hydroxysuccinic acid
  • L-2-Hydroxybutanedioic acid
  • L-Apple acid
  • Malate
Oxalacetic acid
  • 2-Oxobutanedioic acid
  • 2-Oxosuccinic acid
  • 3-Carboxy-3-oxopropanoic acid
  • keto-Succinic acid
  • Ketosuccinic acid
genes like me logo Genes that share compounds with MDH1: view

Transcripts for MDH1 Gene

Unigene Clusters for MDH1 Gene

Malate dehydrogenase 1, NAD (soluble):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MDH1

Clone Products

  • Applied Biological Materials (abm): Clones for MDH1 - Now 50% OFF >
  • * MDH1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * MDH1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for MDH1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c
SP1: - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - - - - -
SP5: - - - - - - - - - - -
SP6: - - - - - - - - - - - - - -
SP7: - - -
SP8: - - - -
SP9: - - - - - - - - -
SP10: - - - - -
SP11: - - -

Relevant External Links for MDH1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MDH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MDH1 Gene

mRNA differential expression in normal tissues according to GTEx for MDH1 Gene

This gene is overexpressed in Heart - Left Ventricle (x6.9) and Heart - Atrial Appendage (x4.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MDH1 Gene

Protein tissue co-expression partners for MDH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MDH1 Gene:


SOURCE GeneReport for Unigene cluster for MDH1 Gene:


Evidence on tissue expression from TISSUES for MDH1 Gene

  • Nervous system(5)
  • Heart(4.8)
  • Liver(4.7)
  • Blood(4.5)
  • Muscle(4.1)
  • Skin(4)
  • Lung(3.8)
  • Eye(3.4)
  • Kidney(3.4)
  • Pancreas(3.1)
  • Intestine(2.6)
  • Thyroid gland(2.5)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with MDH1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MDH1 Gene

Orthologs for MDH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MDH1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MDH1 35 34
  • 99.72 (n)
(Bos Taurus)
Mammalia MDH1 35 34
  • 93.69 (n)
(Canis familiaris)
Mammalia MDH1 35 34
  • 93.59 (n)
(Monodelphis domestica)
Mammalia MDH1 35
  • 91 (a)
(Ornithorhynchus anatinus)
Mammalia MDH1 35
  • 91 (a)
(Mus musculus)
Mammalia Mdh1 17 35 34
  • 90.29 (n)
(Rattus norvegicus)
Mammalia Mdh1 34
  • 89.19 (n)
(Gallus gallus)
Aves MDH1 35 34
  • 81.83 (n)
(Anolis carolinensis)
Reptilia MDH1 35
  • 88 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mdh1 34
  • 79.09 (n)
Str.84 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68659 34
(Danio rerio)
Actinopterygii mdh1aa 35
  • 78 (a)
mdh1b 34
  • 73.43 (n)
wufk59d03 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3779 34
fruit fly
(Drosophila melanogaster)
Insecta CG5362 36
  • 64 (a)
Mdh1 35 34
  • 62.44 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009510 34
  • 60.56 (n)
(Caenorhabditis elegans)
Secernentea mdh-1 35 34
  • 59.43 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G04410 34
  • 60.69 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7946 34
(Oryza sativa)
Liliopsida Os10g0478200 34
  • 60.99 (n)
(Zea mays)
Liliopsida Zm.5727 34
(Triticum aestivum)
Liliopsida Ta.24987 34
(Hordeum vulgare)
Liliopsida Hv.746 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8282 35
  • 64 (a)
Cin.4600 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4600 34
Species where no ortholog for MDH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for MDH1 Gene

Gene Tree for MDH1 (if available)
Gene Tree for MDH1 (if available)
Evolutionary constrained regions (ECRs) for MDH1: view image

Paralogs for MDH1 Gene

Paralogs for MDH1 Gene

(1) SIMAP similar genes for MDH1 Gene using alignment to 8 proteins:

  • B8ZZ51_HUMAN
  • B9A041_HUMAN
  • C9JF79_HUMAN
  • F8WFC2_HUMAN Pseudogenes for MDH1 Gene

genes like me logo Genes that share paralogs with MDH1: view

Variants for MDH1 Gene

Sequence variations from dbSNP and Humsavar for MDH1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs141340867 benign, conflicting-interpretations-of-pathogenicity, likely-benign, not specified, Bardet-Biedl syndrome, not provided 63,588,204(+) G/A/T upstream_transcript_variant
rs182759221 uncertain-significance, Bardet-Biedl syndrome 63,588,184(+) G/A upstream_transcript_variant
rs187916591 uncertain-significance, Bardet-Biedl syndrome 63,588,459(+) C/G upstream_transcript_variant
rs192963932 uncertain-significance, Bardet-Biedl syndrome 63,588,384(+) G/T upstream_transcript_variant
rs2278718 likely-benign, Bardet-Biedl syndrome 63,588,667(+) A/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MDH1 Gene

Variant ID Type Subtype PubMed ID
nsv582126 CNV gain 21841781
nsv7313 OTHER inversion 18451855

Variation tolerance for MDH1 Gene

Residual Variation Intolerance Score: 25.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.10; 22.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MDH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Human Gene Mutation Database (HGMD)

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MDH1 Gene

Disorders for MDH1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MDH1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 28
  • rp28
bardet-biedl syndrome 5
  • bbs5
bardet-biedl syndrome
  • biedl-bardet syndrome
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search MDH1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MDH1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MDH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MDH1 Gene

Publications for MDH1 Gene

  1. Molecular cloning and mapping of a human cDNA for cytosolic malate dehydrogenase (MDH1). (PMID: 8786100) Tanaka T … Nakamura Y (Genomics 1996) 3 4 23 58
  2. Acetylation of malate dehydrogenase 1 promotes adipogenic differentiation via activating its enzymatic activity. (PMID: 22693256) Kim EY … Bae KH (Journal of lipid research 2012) 3 4 58
  3. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PMID: 20602615) Ruaño G … Wu AH (Pharmacogenomics 2010) 3 45 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 58
  5. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PMID: 18996102) Ruaño G … Hanks S (Clinica chimica acta; international journal of clinical chemistry 2009) 3 45 58

Products for MDH1 Gene

Sources for MDH1 Gene

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