• Gene id: 4190

Gene Summary

• Gene Symbol: MDH1   Gene   UCSC   Ensembl
• Aliases: HEL-S-32, MDH-s, MDHA, MGC:1375, MOR2
• Gene name: malate dehydrogenase 1
• Alternate names: malate dehydrogenase, cytoplasmic, malate dehydrogenase, peroxisomal, cytosolic malate dehydrogenase, diiodophenylpyruvate reductase, epididymis secretory protein Li 32, malate dehydrogenase 1, NAD (soluble), soluble malate dehydrogenase,
• Gene location: 2p15 (63588962: 63607196)     Exons: 10     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 154200

Protein Summary

• Protein general information: P40925  
  • Name: Malate dehydrogenase, cytoplasmic (EC 1.1.1.37) (Cytosolic malate dehydrogenase) (Diiodophenylpyruvate reductase) (EC 1.1.1.96)
  • Length: 334  
  • Mass: 36426
• Sequence:

  MSEPIRVLVTGAAGQIAYSLLYSIGNGSVFGKDQPIILVLLDITPMMGVLDGVLMELQDCALPLLKDVIATDKED
  VAFKDLDVAILVGSMPRREGMERKDLLKANVKIFKSQGAALDKYAKKSVKVIVVGNPANTNCLTASKSAPSIPKE
  NFSCLTRLDHNRAKAQIALKLGVTANDVKNVIIWGNHSSTQYPDVNHAKVKLQGKEVGVYEALKDDSWLKGEFVT
  TVQQRGAAVIKARKLSSAMSAAKAICDHVRDIWFGTPEGEFVSMGVISDGNSYGVPDDLLYSFPVVIKNKTWKFV
  EGLPINDFSREKMDLTAKELTEEKESAFEFLSSA

• Structural information:
  • Interpro: IPR001557  IPR022383  IPR001236  IPR015955  IPR001252   IPR011274  IPR010945  IPR036291  
  • Prosite: PS00068
  • CDD: cd01336
  • STRING: ENSP00000438144
• Other Databases: GeneCards:  MDH1  Malacards:  MDH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016615	malate dehydrogenase activity	IEA	molecular function
GO:0019752	carboxylic acid metabolic process	IEA	biological process
GO:0030060	L-malate dehydrogenase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0006108	malate metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0030060	L-malate dehydrogenase activity	IBA	molecular function
GO:0006734	NADH metabolic process	IBA	biological process
GO:0006099	tricarboxylic acid cycle	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0006108	malate metabolic process	IBA	biological process
GO:0006107	oxaloacetate metabolic process	IBA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004470	malic enzyme activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0047860	diiodophenylpyruvate reductase activity	IEA	molecular function
GO:0030060	L-malate dehydrogenase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006094	gluconeogenesis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006734	NADH metabolic process	IEA	biological process
GO:0016615	malate dehydrogenase activity	IEA	molecular function
GO:0019674	NAD metabolic process	IEA	biological process
GO:0030060	L-malate dehydrogenase activity	IEA	molecular function
GO:0006107	oxaloacetate metabolic process	IEA	biological process
GO:0006108	malate metabolic process	IEA	biological process
GO:0051287	NAD binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa00270	Cysteine and methionine metabolism
hsa00620	Pyruvate metabolism
hsa00630	Glyoxylate and dicarboxylate metabolism
hsa00020	Citrate cycle
hsa04964	Proximal tubule bicarbonate reclamation

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)