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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
  • Cytosolic Malate Dehydrogenase 3 4
  • Diiodophenylpyruvate Reductase 3 4
  • EC 1.1.1.37 4 63
  • MDHA 3 4
  • Epididymis Secretory Protein Li 32 3
  • Soluble Malate Dehydrogenase 3
  • EC 1.1.1.96 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 tetanus neonatorum and x-linked sideroblastic anemia with ataxia. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. 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.

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

Genomics for MDH1 Gene

Regulatory Elements for MDH1 Gene

Promoters for MDH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MDH1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MDH1 Gene

Chromosome:
2
Start:
63,588,609 bp from pter
End:
63,607,197 bp from pter
Size:
18,589 bases
Orientation:
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:
    P40925-MDHC_HUMAN
    Recommended name:
    Malate dehydrogenase, cytoplasmic
    Protein Accession:
    P40925
    Secondary Accessions:
    • B2R5V5
    • B4DUN2
    • B7Z3I7
    • F5H098
    • Q6I9V0

    Protein attributes for MDH1 Gene

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

    Alternative splice isoforms for MDH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MDH1 Gene

Proteomics data for MDH1 Gene at MOPED

Post-translational modifications for MDH1 Gene

  • Acetylation at Lys-118 dramatically enhances enzymatic activity and promotes adipogenic differentiation.
  • ISGylated.
  • Ubiquitination at Lys 118, Lys 125, Lys 142, Lys 164, Lys 205, Lys 214, Lys 298, and Lys 318
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for MDH1 Gene

Suggested Antigen Peptide Sequences for MDH1 Gene

Graphical View of Domain Structure for InterPro Entry

P40925

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for MDH1 Gene

Function for MDH1 Gene

Molecular function for MDH1 Gene

GENATLAS Biochemistry:
malate dehydrogenase,NAD,soluble,same as KETAR (keto acid reductase,alpha-1)
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-malate + NAD(+) = oxaloacetate + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
3-(3,5-diiodo-4-hydroxyphenyl)lactate + NAD(+) = 3-(3,5-diiodo-4-hydroxyphenyl)pyruvate + NADH.

Enzyme Numbers (IUBMB) 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:0016615 malate dehydrogenase activity 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

miRNA for MDH1 Gene

miRTarBase miRNAs that target MDH1

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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MDH1 Gene COMPARTMENTS Subcellular localization image for MDH1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
mitochondrion 4
chloroplast 2
peroxisome 2
endoplasmic reticulum 1
lysosome 1
nucleus 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for MDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
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:0006006 glucose metabolic process TAS --
GO:0006107 oxaloacetate metabolic process IEA --
GO:0006108 malate metabolic process IEA --
GO:0019674 NAD metabolic process IEA --
GO:0044281 small molecule metabolic process TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
2'-Monophosphoadenosine 5'-Diphosphoribose Experimental Pharma Target 0
NADH Nutra Target 0
malic acid Pharma Agonist, Activator 0
NAD Pharma Full agonist, Agonist 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)pyruvate
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
L-Malic acid
  • (-)-(S)-Malate
  • (-)-(S)-Malic acid
  • (-)-Hydroxysuccinate
  • (-)-Hydroxysuccinic acid
  • (-)-L-Malic acid
97-67-6
Oxalacetic acid
  • 2-Ketosuccinate
  • 2-Ketosuccinic acid
  • 2-Oxobutanedioate
  • 2-Oxobutanedioic acid
  • 2-Oxosuccinate
328-42-7
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:

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
MDH1
ECgene alternative splicing isoforms for
MDH1

Expression for MDH1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for MDH1 Gene



SOURCE GeneReport for Unigene cluster for MDH1 Gene Hs.526521

genes like me logo Genes that share expression patterns with MDH1: view

Protein tissue co-expression partners for MDH1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia MDH1 35
  • 93.69 (n)
  • 95.5 (a)
MDH1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MDH1 35
  • 93.59 (n)
  • 95.2 (a)
MDH1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mdh1 35
  • 90.29 (n)
  • 96.4 (a)
Mdh1 16
Mdh1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MDH1 35
  • 99.72 (n)
  • 99.72 (a)
MDH1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mdh1 35
  • 89.19 (n)
  • 97 (a)
oppossum
(Monodelphis domestica)
Mammalia MDH1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MDH1 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves MDH1 35
  • 81.83 (n)
  • 90.66 (a)
MDH1 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MDH1 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mdh1 35
  • 79.09 (n)
  • 87.58 (a)
Str.84 35
African clawed frog
(Xenopus laevis)
Amphibia MGC68659 35
zebrafish
(Danio rerio)
Actinopterygii mdh1b 35
  • 73.43 (n)
  • 79.39 (a)
wufk59d03 35
mdh1aa 36
  • 78 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3779 35
fruit fly
(Drosophila melanogaster)
Insecta CG5362 37
  • 64 (a)
Mdh1 35
  • 62.44 (n)
  • 66.47 (a)
Mdh1 36
  • 65 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009510 35
  • 60.56 (n)
  • 66.88 (a)
worm
(Caenorhabditis elegans)
Secernentea mdh-1 35
  • 59.43 (n)
  • 60.86 (a)
mdh-1 36
  • 59 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G04410 35
  • 60.69 (n)
  • 62.01 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7946 35
barley
(Hordeum vulgare)
Liliopsida Hv.746 35
rice
(Oryza sativa)
Liliopsida Os10g0478200 35
  • 60.99 (n)
  • 59.88 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.24987 35
corn
(Zea mays)
Liliopsida Zm.5727 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4600 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8282 36
  • 64 (a)
OneToOne
Species with no ortholog for MDH1:
  • 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

ENSEMBL:
Gene Tree for MDH1 (if available)
TreeFam:
Gene Tree for MDH1 (if available)

Paralogs for MDH1 Gene

Paralogs for MDH1 Gene

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

Pseudogenes.org Pseudogenes for MDH1 Gene

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

Variants for MDH1 Gene

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

Variant ID Type Subtype PubMed ID
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)

Relevant External Links for MDH1 Gene

HapMap Linkage Disequilibrium report
MDH1
Human Gene Mutation Database (HGMD)
MDH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for MDH1 Gene

Disorders for MDH1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MDH1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
tetanus neonatorum
  • neonatal tetanus
x-linked sideroblastic anemia with ataxia
  • anemia sideroblastic and spinocerebellar ataxia
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

Relevant External Links for MDH1

Genetic Association Database (GAD)
MDH1
Human Genome Epidemiology (HuGE) Navigator
MDH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MDH1
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 67
  2. A nucleocytoplasmic malate dehydrogenase regulates p53 transcriptional activity in response to metabolic stress. (PMID: 19229245) Lee S.M. … Youn H.D. (Cell Death Differ. 2009) 3 23
  3. Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa. (PMID: 20011630) Rio Frio T. … Rivolta C. (Mol. Vis. 2009) 3 23
  4. Developmental regulation and cellular distribution of human cytosolic malate dehydrogenase (MDH1). (PMID: 15565635) Lo A.S. … Waye M.M. (J. Cell. Biochem. 2005) 3 23
  5. Ability of cytosolic malate dehydrogenase and lactate dehydrogenase to increase the ratio of NADPH to NADH oxidation by cytosolic glycerol-3-phosphate dehydrogenase. (PMID: 10190973) Fahien L.A. … Chobanian M. (Arch. Biochem. Biophys. 1999) 3 23

Products for MDH1 Gene

Sources for MDH1 Gene

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