MDH1 Gene (Protein Coding)

Malate Dehydrogenase 1

GC02P063557
GIFtS:
47
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 mal... See more...

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 1.1.1.37 4 51
  • MDHA 3 4
  • Epididymis Secretory Protein Li 32 3
  • Malate Dehydrogenase, Peroxisomal 3
  • Soluble Malate Dehydrogenase 3
  • EC 1.1.1.96 4
  • HEL-S-32 3
  • MGC:1375 3
  • EIEE88 3
  • DEE88 3
  • MDH-S 3
  • MOR2 3
  • MDH1 5

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 Developmental And Epileptic Encephalopathy 88 and Genetic Prion Disease. Among its related pathways are Glucose metabolism and Carbon 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.

UniProtKB/Swiss-Prot Summary for MDH1 Gene

  • Catalyzes the reduction of aromatic alpha-keto acids in the presence of NADH (PubMed:3052244). Plays essential roles in the malate-aspartate shuttle and the tricarboxylic acid cycle, important in mitochondrial NADH supply for oxidative phosphorylation (PubMed:31538237).

Additional gene information for MDH1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MDH1 Gene

Genomics for MDH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MDH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 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 CraniofacialAtlas 295.7 +0.9 867 6.2 CHD2 TBP ZBTB10 MXD4 SP1 BCL11A FEZF1 CEBPA SIX5 NR2C1 MDH1 WDPCP VPS54 AFTPH HSALNG0015434 lnc-VPS54-7
GH02J063612 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 42 +25.7 25747 4.7 CEBPA ZNF217 SIN3A CUX1 FOXA2 SAP130 ZEB2 TAL1 MLLT1 CTBP1 HSALNG0015433 HSALNG0015434 MDH1 WDPCP UGP2 lnc-VPS54-6 lnc-VPS54-7
GH02J063665 Enhancer 0.7 Ensembl ENCODE 44 +78.7 78692 3.8 RXRA ZBTB33 JUND HNF4A RAD21 ATF2 REST MAX SP1 ATF7 MDH1 WDPCP HSALNG0015436 lnc-VPS54-6 lnc-VPS54-7
GH02J063661 Enhancer 0.6 Ensembl ENCODE 43.2 +72.6 72551 1.5 SPI1 HNF4A HNF4G CEBPB MDH1 HSALNG0015435 HSALNG0015436 lnc-VPS54-6 WDPCP lnc-VPS54-7
GH02J063663 Enhancer 0.5 Ensembl 41.1 +74.5 74492 0.2 HNF4A HLF GABPA RXRA YY1 HSALNG0015436 MDH1 HSALNG0015435 lnc-VPS54-6 WDPCP lnc-VPS54-7
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MDH1

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

Latest Assembly
chr2:63,588,609-63,607,197
(GRCh38/hg38)
Size:
18,589 bases
Orientation:
Plus strand

Previous Assembly
chr2:63,816,097-63,834,331
(GRCh37/hg19 by Entrez Gene)
Size:
18,235 bases
Orientation:
Plus strand

chr2:63,815,743-63,834,331
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for MDH1 Gene

Proteins for MDH1 Gene

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  • 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

Protein Expression for MDH1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for MDH1 Gene

P40925:
  • AFKDLDVA
  • RLDHNRA
  • LDVAILV
  • LVLLDITPMM
  • IWGNHSSTQYPD
  • QYPDVNHA
  • VVGNPANTN
  • MELQDCA
  • GMERKDLL
  • RGAAVIKAR
  • KDDSWLKG
  • TVQQRGA
  • APSIPKENF
  • FSREKMD
  • TGAAGQI

Post-translational modifications for MDH1 Gene

  • ISGylated.
  • Acetylation at Lys-118 dramatically enhances enzymatic activity and promotes adipogenic differentiation.
  • Ubiquitination at Lys118, Lys125, Lys142, Lys164, Lys205, Lys214, Lys298, and Lys318
  • Modification sites at PhosphoSitePlus

Other Protein References for MDH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MDH1 Gene

Gene Families for MDH1 Gene

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

Protein Domains for MDH1 Gene

InterPro:
Blocks:
  • L-lactate dehydrogenase
  • Malate dehydrogenase
ProtoNet:

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

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

Function for MDH1 Gene

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Molecular function for MDH1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the reduction of aromatic alpha-keto acids in the presence of NADH (PubMed:3052244). Plays essential roles in the malate-aspartate shuttle and the tricarboxylic acid cycle, important in mitochondrial NADH supply for oxidative phosphorylation (PubMed:31538237).
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=1.1.1.37; Evidence={ECO:0000269|PubMed:3052244};.
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=1.1.1.96; Evidence={ECO:0000269|PubMed:3052244};.
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:0003824 catalytic activity IEA --
GO:0004470 malic enzyme activity TAS 8786100
GO:0005515 protein binding IPI 21044950
GO:0016491 oxidoreductase activity IEA --
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

Human Phenotype Ontology for MDH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

miRNA for MDH1 Gene

miRTarBase miRNAs that target MDH1

Inhibitory RNAs for research

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

Clone products for research

No data available for 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
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 5
extracellular 4
cytoskeleton 3
mitochondrion 3
plasma membrane 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

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:0005813 centrosome IDA --
GO:0005829 cytosol IDA,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

Pathways by source for MDH1 Gene

1 GeneGo (Thomson Reuters) pathway for MDH1 Gene
  • Glycolysis and gluconeogenesis (short map)

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 IEA,IBA 21873635
GO:0006107 oxaloacetate metabolic process IEA,IBA 21873635
GO:0006108 malate metabolic process IEA,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

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(7) 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
Dihydroartemisinin Experimental, Investigational Pharma Target, ligand 119
NADP Experimental Pharma Target 0
NAD Experimental Pharma 0
Malic acid Investigational Pharma 0

(9) 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-(3,5-diiodo-4-Hydroxyphenyl)lactate
3-(3,5-Diiodo-4-hydroxyphenyl)pyruvate
  • 3,5-Diiodo-4-hydroxyphenylpyruvate
  • beta-(3,5-Diiodo-4-hydroxyphenyl)pyruvate
  • 3,5-Diiodo-4-hydroxyphenylpyruvic acid
  • b-(3,5-Diiodo-4-hydroxyphenyl)pyruvate
  • b-(3,5-Diiodo-4-hydroxyphenyl)pyruvic acid
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
Oxalacetic acid
  • 2-Oxobutanedioic acid
  • 2-Oxosuccinic acid
  • 3-Carboxy-3-oxopropanoic acid
  • Keto-succinic acid
  • Ketosuccinic acid
 328-42-7
genes like me logo Genes that share compounds with MDH1: view

Transcripts for MDH1 Gene

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mRNA/cDNA for MDH1 Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

Clone products for research

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

Expression for MDH1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for MDH1 Gene
mRNA expression by GTEx for MDH1 GenemRNA expression by BioGPS 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MDH1

SOURCE GeneReport for Unigene cluster for MDH1 Gene:

Hs.526521

Evidence on tissue expression from TISSUES for MDH1 Gene

  • Nervous system(5)
  • Heart(5)
  • Liver(4.7)
  • Blood(4.6)
  • Skin(4.4)
  • Muscle(4.2)
  • Lung(4)
  • Eye(3.7)
  • Kidney(3.7)
  • Pancreas(3.6)
  • Intestine(3.2)
  • Thyroid gland(2.7)
  • Adrenal gland(2.5)
  • Stomach(2.5)
  • Lymph node(2.3)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with MDH1: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
 Mammalia MDH1 30 31
  • 99.72 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MDH1 30 31
  • 93.69 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MDH1 30 31
  • 93.59 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia MDH1 31
  • 91 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MDH1 31
  • 91 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Mdh1 30 17 31
  • 90.29 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Mdh1 30
  • 89.19 (n)
Chicken
(Gallus gallus)
 Aves MDH1 30 31
  • 81.83 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MDH1 31
  • 88 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia mdh1 30
  • 79.09 (n)
Str.84 30
African clawed frog
(Xenopus laevis)
 Amphibia MGC68659 30
Zebrafish
(Danio rerio)
 Actinopterygii mdh1aa 31
  • 78 (a)
 OneToOne
mdh1b 30
  • 73.43 (n)
wufk59d03 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.3779 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG5362 32
  • 64 (a)
Mdh1 30 31
  • 62.44 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009510 30
  • 60.56 (n)
Worm
(Caenorhabditis elegans)
 Secernentea mdh-1 30 31
  • 59.43 (n)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT1G04410 30
  • 60.69 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.7946 30
Rice
(Oryza sativa)
 Liliopsida Os10g0478200 30
  • 60.99 (n)
Barley
(Hordeum vulgare)
 Liliopsida Hv.746 30
Wheat
(Triticum aestivum)
 Liliopsida Ta.24987 30
Corn
(Zea mays)
 Liliopsida Zm.5727 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.8282 31
  • 64 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.4600 30
Species where no ortholog for MDH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
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:

  • MDHC_HUMAN
  • B8ZZ51_HUMAN
  • B9A041_HUMAN
  • C9IZI0_HUMAN
  • C9JF79_HUMAN
  • C9JLV6_HUMAN
  • C9JRL4_HUMAN
  • F8WFC2_HUMAN

Pseudogenes.org Pseudogenes for MDH1 Gene

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

Variants for MDH1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MDH1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
973504 Pathogenic: Developmental and epileptic encephalopathy, 88 63,597,558(+) C/T
NM_005917.4(MDH1):c.359C>T (p.Ala120Val) 		MISSENSE
VAR_083894 Epileptic encephalopathy, early infantile, 88 (EIEE88) [MIM:618959] p.Ala120Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MDH1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Human Gene Mutation Database (HGMD)
MDH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MDH1

SNP Genotyping and Copy Number Assays for research

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

Disorders for MDH1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MDH1 Gene - From: OMI, CVR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
developmental and epileptic encephalopathy 88
  • dee88
genetic prion disease
  • genetic prion diseases
immunodeficiency 24
  • imd24
tetanus neonatorum
  • neonatal tetanus
retinitis pigmentosa
  • rp
- elite association - COSMIC cancer census association via MalaCards
Search MDH1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MDHC_HUMAN
  • Epileptic encephalopathy, early infantile, 88 (EIEE88) [MIM:618959]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE88 is an autosomal recessive severe form characterized by global developmental delay, epilepsy, and progressive microcephaly. {ECO:0000269 PubMed:31538237}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MDH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MDH1: view

No data available for Genatlas for MDH1 Gene

Publications for MDH1 Gene

  1. MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy. (PMID: 31538237) Broeks MH … Alkuraya FS (Human genetics 2019) 3 4 74
  2. Molecular cloning and mapping of a human cDNA for cytosolic malate dehydrogenase (MDH1). (PMID: 8786100) Tanaka T … Nakamura Y (Genomics 1996) 3 4 23
  3. 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
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. 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 41

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