MDH1 (malate dehydrogenase 1)

2003-08-01 Affiliation

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

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000014641	ENST00000233114	P40925
ENSG00000014641	ENST00000233114	V9HWF2
ENSG00000014641	ENST00000409476	B9A041
ENSG00000014641	ENST00000409908	B8ZZ51
ENSG00000014641	ENST00000421012	F8WFC2
ENSG00000014641	ENST00000432309	C9JF79
ENSG00000014641	ENST00000436321	C9JRL4
ENSG00000014641	ENST00000442225	C9IZI0
ENSG00000014641	ENST00000454035	C9JLV6
ENSG00000014641	ENST00000539945	P40925
ENSG00000014641	ENST00000544381	P40925
ENSG00000014641	ENST00000544381	V9HWF2

Expression (GTEx)

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

Pathway	Source	External ID
Citrate cycle (TCA cycle)	KEGG	ko00020
Pyruvate metabolism	KEGG	ko00620
Glyoxylate and dicarboxylate metabolism	KEGG	ko00630
Citrate cycle (TCA cycle)	KEGG	hsa00020
Pyruvate metabolism	KEGG	hsa00620
Glyoxylate and dicarboxylate metabolism	KEGG	hsa00630
Cysteine and methionine metabolism	KEGG	ko00270
Cysteine and methionine metabolism	KEGG	hsa00270
Metabolic pathways	KEGG	hsa01100
Proximal tubule bicarbonate reclamation	KEGG	ko04964
Proximal tubule bicarbonate reclamation	KEGG	hsa04964
Citrate cycle, second carbon oxidation, 2-oxoglutarate => oxaloacetate	KEGG	hsa_M00011
Citrate cycle (TCA cycle, Krebs cycle)	KEGG	M00009
Citrate cycle, second carbon oxidation, 2-oxoglutarate => oxaloacetate	KEGG	M00011
Carbon metabolism	KEGG	hsa01200
Carbon metabolism	KEGG	ko01200
Citrate cycle (TCA cycle, Krebs cycle)	KEGG	hsa_M00009
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
Glucose metabolism	REACTOME	R-HSA-70326
Gluconeogenesis	REACTOME	R-HSA-70263

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
31538237	2019	MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy.	22
31795176	2019	Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients.	5
31538237	2019	MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy.	22
31795176	2019	Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients.	5
29574159	2018	miR-126-5p targets Malate Dehydrogenase 1 in non-small cell lung carcinomas.	12
29574159	2018	miR-126-5p targets Malate Dehydrogenase 1 in non-small cell lung carcinomas.	12
28263970	2017	Cytosolic malate dehydrogenase activity helps support glycolysis in actively proliferating cells and cancer.	46
28263970	2017	Cytosolic malate dehydrogenase activity helps support glycolysis in actively proliferating cells and cancer.	46
27840030	2016	Arginine Methylation of MDH1 by CARM1 Inhibits Glutamine Metabolism and Suppresses Pancreatic Cancer.	87
27881739	2016	The functional readthrough extension of malate dehydrogenase reveals a modification of the genetic code.	28
27840030	2016	Arginine Methylation of MDH1 by CARM1 Inhibits Glutamine Metabolism and Suppresses Pancreatic Cancer.	87
27881739	2016	The functional readthrough extension of malate dehydrogenase reveals a modification of the genetic code.	28
22360420	2012	Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.	24
22693256	2012	Acetylation of malate dehydrogenase 1 promotes adipogenic differentiation via activating its enzymatic activity.	42
22360420	2012	Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.	24

Citation

Dessen P

MDH1 (malate dehydrogenase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/41327/js/lib/img/logo-atlas-4.svg