Ensembl ID ENSG00000014641 Gene ID 4190 Accession 6970
Gene Symbol MDH1 Alias KAR;MDHA;MOR2;DEE88;MDH-s;EIEE88;HEL-S-32;MGC:1375 Full Name malate dehydrogenase 1
Position 2 : 63588609 - 63607197 Length 18589 bases Strand Plus strand
Status Confidence Main interacting RNAsN.A.RBP type Non-canonical_RBPs
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]

ENSG00000014641 Expression In 33 Tumors

Ensembl ID Gene symbol Log2 Foldchange Pvaue Cancer
ENSG00000014641 -0.8 7.79e-31 KIRC
ENSG00000014641 -0.6 9.37e-20 HNSC
ENSG00000014641 -0.5 2.05e-25 BRCA
ENSG00000014641 -0.4 2.66e-11 COAD
ENSG00000014641 0.87 1.60e-22 LUSC
ENSG00000014641 -1.7 1.15e-13 GBM
ENSG00000014641 -0.5 1.06e-12 STAD
Ensembl ID Gene symbol Cancer types Pubmed ID
ENSG00000014641 tumors 17308960
ENSG00000014641 tumor 22614725
ENSG00000014641 Pancreatic Cancer 27840030
ENSG00000014641 tumors 28263970
ENSG00000014641 cancer 28819410
ENSG00000014641 cancer 28991459
ENSG00000014641 Pancreatic cancer 29295482
ENSG00000014641 cancer 29970880
ENSG00000014641 ovarian cancer 30132561
ENSG00000014641 pancreatic cancer 30765601
Ensembl ID Gene symbol Disease/phenotype Mutation type Mutated / Total samples Literature
Ensembl ID Gene symbol Cancer P-value Which worse show
ENSG00000014641 MESO 0.0031 low
ENSG00000014641 SARC 0.00093 low
ENSG00000014641 UVM 0.0024 high
ENSG00000014641 UCEC 0.00086 high
ENSG00000014641 ACC 0.042 low
ENSG00000014641 HNSC 0.0088 high
ENSG00000014641 KIRP 0.0028 low
ENSG00000014641 KICH 0.0052 high
ENSG00000014641 LUAD 0.0055 high
ENSG00000014641 THYM 0.03 high
ENSG00000014641 ESCA 0.018 high
ENSG00000014641 KIRC 0.0026 low
ENSG00000014641 PRAD 0.045 high
ENSG00000014641 LAML 0.00066 high
ENSG00000014641 CESC 0.0039 low
ENSG00000014641 LIHC 0.03 high
Ensembl ID Gene symbol Cancer CNV type -log10(q-value) G-score average amplitude frequency
ENSG00000014641 LUSC Amp 7.907542 0.362300 0.637697 0.530938
ENSG00000014641 DLBC Amp 2.314444 0.363203 0.979288 0.187500