Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4190
Gene name	Malate dehydrogenase 1
Gene symbol	MDH1
Synonyms (NCBI Gene)	DEE88EIEE88HEL-S-32KARMDH-sMDHAMGC:1375MOR2
Chromosome	2
Chromosome location	2p15
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 mi

Show/Hide all (59)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028752	hsa-miR-26b-5p	Microarray	19088304
MIRT046497	hsa-miR-15b-5p	CLASH	23622248
MIRT045287	hsa-miR-186-5p	CLASH	23622248
MIRT1138602	hsa-miR-3662	CLIP-seq
MIRT1138603	hsa-miR-4719	CLIP-seq
MIRT1138604	hsa-miR-486-5p	CLIP-seq
MIRT1138605	hsa-miR-513b	CLIP-seq
MIRT1138606	hsa-miR-616	CLIP-seq
MIRT1138607	hsa-miR-649	CLIP-seq
MIRT1138608	hsa-miR-548g	CLIP-seq
MIRT1138602	hsa-miR-3662	CLIP-seq
MIRT1138603	hsa-miR-4719	CLIP-seq
MIRT1138609	hsa-miR-4760-5p	CLIP-seq
MIRT1138604	hsa-miR-486-5p	CLIP-seq
MIRT1138605	hsa-miR-513b	CLIP-seq
MIRT1138608	hsa-miR-548g	CLIP-seq
MIRT1138606	hsa-miR-616	CLIP-seq
MIRT1138610	hsa-miR-627	CLIP-seq
MIRT1138607	hsa-miR-649	CLIP-seq
MIRT2039329	hsa-miR-1263	CLIP-seq
MIRT1138610	hsa-miR-627	CLIP-seq
MIRT2269403	hsa-miR-127-5p	CLIP-seq
MIRT1138603	hsa-miR-4719	CLIP-seq
MIRT1138609	hsa-miR-4760-5p	CLIP-seq
MIRT1138604	hsa-miR-486-5p	CLIP-seq
MIRT1138605	hsa-miR-513b	CLIP-seq
MIRT1138608	hsa-miR-548g	CLIP-seq
MIRT1138606	hsa-miR-616	CLIP-seq
MIRT1138607	hsa-miR-649	CLIP-seq
MIRT2269404	hsa-miR-802	CLIP-seq
MIRT2568589	hsa-miR-1179	CLIP-seq
MIRT2039329	hsa-miR-1263	CLIP-seq
MIRT2269403	hsa-miR-127-5p	CLIP-seq
MIRT1138602	hsa-miR-3662	CLIP-seq
MIRT2568590	hsa-miR-4457	CLIP-seq
MIRT1138603	hsa-miR-4719	CLIP-seq
MIRT1138609	hsa-miR-4760-5p	CLIP-seq
MIRT2568591	hsa-miR-4795-3p	CLIP-seq
MIRT1138604	hsa-miR-486-5p	CLIP-seq
MIRT2568592	hsa-miR-5096	CLIP-seq
MIRT1138605	hsa-miR-513b	CLIP-seq
MIRT1138606	hsa-miR-616	CLIP-seq
MIRT1138610	hsa-miR-627	CLIP-seq
MIRT1138607	hsa-miR-649	CLIP-seq
MIRT2269404	hsa-miR-802	CLIP-seq
MIRT2568589	hsa-miR-1179	CLIP-seq
MIRT2039329	hsa-miR-1263	CLIP-seq
MIRT2269403	hsa-miR-127-5p	CLIP-seq
MIRT1138602	hsa-miR-3662	CLIP-seq
MIRT2568590	hsa-miR-4457	CLIP-seq
MIRT1138603	hsa-miR-4719	CLIP-seq
MIRT1138609	hsa-miR-4760-5p	CLIP-seq
MIRT2568591	hsa-miR-4795-3p	CLIP-seq
MIRT1138604	hsa-miR-486-5p	CLIP-seq
MIRT2568592	hsa-miR-5096	CLIP-seq
MIRT1138605	hsa-miR-513b	CLIP-seq
MIRT1138606	hsa-miR-616	CLIP-seq
MIRT1138610	hsa-miR-627	CLIP-seq
MIRT1138607	hsa-miR-649	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004470	Function	Malic enzyme activity	TAS	8786100
GO:0005515	Function	Protein binding	IPI	21044950
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005737	Component	Cytoplasm	IDA	34547241
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS	8786100
GO:0006099	Process	Tricarboxylic acid cycle	IBA
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006107	Process	Oxaloacetate metabolic process	IBA
GO:0006108	Process	Malate metabolic process	IBA
GO:0006108	Process	Malate metabolic process	IEA
GO:0006739	Process	NADP+ metabolic process	IDA	34547241
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016615	Function	Malate dehydrogenase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0019674	Process	NAD+ metabolic process	IBA
GO:0019674	Process	NAD+ metabolic process	IDA	34547241
GO:0019674	Process	NAD+ metabolic process	IEA
GO:0019752	Process	Carboxylic acid metabolic process	IEA
GO:0030060	Function	L-malate dehydrogenase (NAD+) activity	EXP	3052244
GO:0030060	Function	L-malate dehydrogenase (NAD+) activity	IBA
GO:0030060	Function	L-malate dehydrogenase (NAD+) activity	IEA
GO:0043490	Process	Malate-aspartate shuttle	IEA
GO:0043490	Process	Malate-aspartate shuttle	IMP	37647199
GO:0043490	Process	Malate-aspartate shuttle	TAS
GO:0047860	Function	Diiodophenylpyruvate reductase (NAD+) activity	IEA
GO:0047995	Function	(2R)-hydroxyphenylpyruvate reductase [NAD(P)H] activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

MIM	HGNC	e!Ensembl
154200	6970	ENSG00000014641

P40925

Protein name

Malate dehydrogenase, cytoplasmic (EC 1.1.1.37) (Aromatic alpha-keto acid reductase) (KAR) (EC 1.1.1.96) (Cytosolic malate dehydrogenase)

Protein function

Catalyzes the reduction of aromatic alpha-keto acids in the presence of NADH (PubMed:2449162, PubMed:3052244). Plays essential roles in the malate-aspartate shuttle and the tricarboxylic acid cycle, important in mitochondrial NADH supply for oxi

PDB

7RM9 , 7RRL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00056	Ldh_1_N	5 → 153	lactate/malate dehydrogenase, NAD binding domain	Family
PF02866	Ldh_1_C	156 → 331	lactate/malate dehydrogenase, alpha/beta C-terminal domain	Domain

Sequence

MSEPIRVLVTGAAGQIAYSLLYSIGNGSVFGKDQPIILVLLDITPMMGVLDGVLMELQDC
ALPLLKDVIATDKEDVAFKDLDVAILVGSMPRREGMERKDLLKANVKIFKSQGAALDKYA
KKSVKVIVVGNPANTNCLTASKSAPSIPKENFSCLTRLDHNRAKAQIALKLGVTANDVKN
VIIWGNHSSTQYPDVNHAKVKLQGKEVGVYEALKDDSWLKGEFVTTVQQRGAAVIKARKL
SSAMSAAKAICDHVRDIWFGTPEGEFVSMGVISDGNSYGVPDDLLYSFPVVIKNKTWKFV
EGLPINDFSREKMDLTAKELTEEKESAFEFLSSA

Sequence length

334

Interactions

View interactions

	KEGG		Reactome
	Citrate cycle (TCA cycle) Cysteine and methionine metabolism Pyruvate metabolism Glyoxylate and dicarboxylate metabolism Metabolic pathways Carbon metabolism Proximal tubule bicarbonate reclamation		Gluconeogenesis

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 88	Pathogenic	rs1709340590	RCV001250130

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs201758772	RCV005937391
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	rs201758772	RCV005937395
Colon adenocarcinoma	Likely benign	rs78810459	RCV005930140
Familial pancreatic carcinoma	Likely benign	rs78810459	RCV005930143
Gastric cancer	Likely benign	rs78810459	RCV005930144
Hepatocellular carcinoma	Likely benign	rs78810459	RCV005930141
Lymphoma	Likely benign	rs201758772	RCV005937394
Malignant tumor of esophagus	Likely benign	rs78810459, rs201758772	RCV005930142 RCV005937392
Sarcoma	Likely benign	rs201758772	RCV005937393

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Stimulate	26627638
Alzheimer Disease	Associate	31984950
Carcinoma Pancreatic Ductal	Associate	27840030, 30765601
Carcinoma Squamous Cell	Associate	34044809
COVID 19	Associate	33228475
Creutzfeldt Jakob Disease Sporadic	Associate	27852982
Creutzfeldt Jakob Disease Sporadic	Stimulate	31795176
Creutzfeldt Jakob Syndrome	Associate	31795176
Developmental Disabilities	Associate	37977948
Epilepsy	Associate	36079864, 37977948
Esophageal Neoplasms	Associate	28937628
Esophageal Squamous Cell Carcinoma	Associate	37402485
Gerstmann Straussler Scheinker Disease	Associate	31795176
Glioblastoma	Associate	21655185
Insomnia Fatal Familial	Stimulate	31795176
Lewy Body Disease	Associate	26627638
Microcephaly	Associate	37977948
Mitochondrial Diseases	Associate	29452638
Myocardial Infarction	Associate	32736138
Nasopharyngeal Carcinoma	Associate	37151882
Neoplasms	Associate	28263970, 37151882
Neurologic Manifestations	Associate	37977948
Non ST Elevated Myocardial Infarction	Associate	32736138
Pancreatic Neoplasms	Associate	27840030, 30765601
Prion Diseases	Associate	31795176
Retinitis Pigmentosa	Associate	15215745

MDH1 (malate dehydrogenase 1)