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FLASH GENE

Symbol

MDH1

contributors: mct - updated : 13-11-2020

HGNC name	malate dehydrogenase 1, NAD (soluble)
HGNC id	6970

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005917 9 - 1296 NP_005908 - 334 - 2019 31538237 NM_001316374 9 - 1296 NP_001303303 - 353 - 2019 31538237 NM_001199112 8 - 1354 NP_001186041 - 245 - 2019 31538237 NM_001199111 9 - 1451 NP_001186040 - 352 - 2019 31538237

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Endocrine parathyroid       highly   thyroid       highly Nervous brain         Homo sapiens Urinary bladder       highly

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

Text	heart, highly

PROTEIN

PHYSICAL PROPERTIES		globular
STRUCTURE

motifs/domains

mono polymer

homomer , dimer

HOMOLOGY

interspecies	homolog to murine Mor2
	homolog to C.elegans f46e10.10

intraspecies

homolog to KETAR (keto acid reductase,alpha-1)

Homologene

FAMILY

IDH family, MDH subfamily

CATEGORY

enzyme , transport

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria
	catalyzing the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle
	adipogenic differentiation may be regulated by the acetylation of MDH1 and that the acetylation of MDH1 is one of the cross-talk mechanisms between adipogenesis and the intracellular energy level
	cytosolic MDH1 activity helps support glycolysis in actively proliferating cells and cancer
	MPP7 and MDH1 are novel regulators of autophagy, which is thought to be responsible for pancreatic cancer cell survival

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	malate-aspartate shuttle

PATHWAY

metabolism

signaling

citric acid cycle

a component

INTERACTION

DNA

RNA

small molecule	metal binding, cofactor, nucleotide,
	NAD +

protein

MDH1 functions likely as a transcriptional regulator for a TP53-dependent metabolic checkpoint

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE88

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in left ventricular cardiac muscle of dilated cardiomyopathy (DCM) patients constitutional     --over   in sporadic Creutzfeldt-Jakob disease (sCJD) patients

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	potential of MDH1 in combination with tau as an additional biomarker in sCJD improving diagnostic accuracy of tau markedly
Therapy target

ANIMAL & CELL MODELS