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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4190
Gene name Gene Name - the full gene name approved by the HGNC.	Malate dehydrogenase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MDH1
Synonyms (NCBI Gene) Gene synonyms aliases	DEE88, EIEE88, HEL-S-32, KAR, MDH-s, MDHA, MGC:1375, MOR2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DEE88
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p15
Summary Summary of gene provided in NCBI Entrez Gene.	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(15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004470	Function	Malic enzyme activity	TAS	8786100
GO:0005515	Function	Protein binding	IPI	21044950
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006094	Process	Gluconeogenesis	TAS
GO:0006099	Process	Tricarboxylic acid cycle	IBA	21873635
GO:0006107	Process	Oxaloacetate metabolic process	IBA	21873635
GO:0006108	Process	Malate metabolic process	IBA	21873635
GO:0006734	Process	NADH metabolic process	IBA	21873635
GO:0030060	Function	L-malate dehydrogenase activity	IBA	21873635
GO:0047860	Function	Diiodophenylpyruvate reductase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

MIM	HGNC	e!Ensembl
154200	6970	ENSG00000014641

Protein

UniProt ID

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 (2)

Disease term	Disease name	dbSNP ID	References
Causal
Hypertension	Hypertensive disease	rs13306026	22228705
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	15176481

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text Mining
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)