MDH1 (malate dehydrogenase 1)

Gene

• Entrez ID: 4190
• Gene name: Malate dehydrogenase 1
• Gene symbol: MDH1
• Synonyms: DEE88, EIEE88, HEL-S-32, KAR, MDH-s, MDHA, MGC:1375, MOR2
• 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 154200
• HGNC: 6970
• e!Ensembl: 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

Pathways

KEGG:

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

Reactome:

Gluconeogenesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Hypertension	Hypertensive disease	rs13306026, rs13333226	22228705
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	15176481

Unknown
Disease name	Disease term	dbSNP ID	References
Respiratory distress syndrome	Respiratory Distress Syndrome, Adult		25070658