MDH1 (malate dehydrogenase 1)

2003-08-01  

Identity

HGNC
MDH1
LOCATION
2p15
LOCUSID
4190
ALIAS
DEE88,EIEE88,HEL-S-32,KAR,MDH-s,MDHA,MGC:1375,MOR2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4190
MIM: 154200
HGNC: 6970
Ensembl: ENSG00000014641

Variants:

dbSNP: 4190
ClinVar: 4190
TCGA: ENSG00000014641
COSMIC: MDH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000014641ENST00000233114P40925
ENSG00000014641ENST00000233114V9HWF2
ENSG00000014641ENST00000409476B9A041
ENSG00000014641ENST00000409908B8ZZ51
ENSG00000014641ENST00000421012F8WFC2
ENSG00000014641ENST00000432309C9JF79
ENSG00000014641ENST00000436321C9JRL4
ENSG00000014641ENST00000442225C9IZI0
ENSG00000014641ENST00000454035C9JLV6
ENSG00000014641ENST00000539945P40925
ENSG00000014641ENST00000544381P40925
ENSG00000014641ENST00000544381V9HWF2

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Citrate cycle (TCA cycle)KEGGko00020
Pyruvate metabolismKEGGko00620
Glyoxylate and dicarboxylate metabolismKEGGko00630
Citrate cycle (TCA cycle)KEGGhsa00020
Pyruvate metabolismKEGGhsa00620
Glyoxylate and dicarboxylate metabolismKEGGhsa00630
Cysteine and methionine metabolismKEGGko00270
Cysteine and methionine metabolismKEGGhsa00270
Metabolic pathwaysKEGGhsa01100
Proximal tubule bicarbonate reclamationKEGGko04964
Proximal tubule bicarbonate reclamationKEGGhsa04964
Citrate cycle, second carbon oxidation, 2-oxoglutarate => oxaloacetateKEGGhsa_M00011
Citrate cycle (TCA cycle, Krebs cycle)KEGGM00009
Citrate cycle, second carbon oxidation, 2-oxoglutarate => oxaloacetateKEGGM00011
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Citrate cycle (TCA cycle, Krebs cycle)KEGGhsa_M00009
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
GluconeogenesisREACTOMER-HSA-70263

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
191102652009Proteomic analysis of dorsolateral prefrontal cortex indicates the involvement of cytoskeleton, oligodendrocyte, energy metabolism and new potential markers in schizophrenia.43
278400302016Arginine Methylation of MDH1 by CARM1 Inhibits Glutamine Metabolism and Suppresses Pancreatic Cancer.26
226932562012Acetylation of malate dehydrogenase 1 promotes adipogenic differentiation via activating its enzymatic activity.25
192292452009A nucleocytoplasmic malate dehydrogenase regulates p53 transcriptional activity in response to metabolic stress.24
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
155656352005Developmental regulation and cellular distribution of human cytosolic malate dehydrogenase (MDH1).15
189961022009Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.11
282639702017Cytosolic malate dehydrogenase activity helps support glycolysis in actively proliferating cells and cancer.11
278817392016The functional readthrough extension of malate dehydrogenase reveals a modification of the genetic code.7

Citation

Dessen P

MDH1 (malate dehydrogenase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/41327/mdh1