malate dehydrogenase 1

Summary
Gene Symbol
  • MDH1
Organism
Homo sapiens (human)
External Links
NCBI Gene
4190
HGNC
6970
KEGG Gene ID
hsa:4190
PubChem
4190
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Cytoplasm
  • Direct protein sequencing
  • Disease variant
  • Epilepsy
  • Methylation
  • NAD
  • Oxidoreductase
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Tricarboxylic acid cycle
  • Ubl conjugation
Proteins
Displaying all 3 entries
UniProt Protein Name
A0A5K1VW95
V9HWF2
P40925
  • Aromatic alpha-keto acid reductase
  • Cytosolic malate dehydrogenase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000014641

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K00025
Name
malate dehydrogenase [EC:1.1.1.37]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 60 in total
DO ID Disease Name Source
DOID:0050433 fatal familial insomnia
DOID:0050572 cone-rod dystrophy
DOID:0050819 obsolete Matthew-Wood syndrome
DOID:0110423 dilated cardiomyopathy 1C
DOID:0110424 dilated cardiomyopathy 1CC
DOID:0110425 dilated cardiomyopathy 1A
DOID:0110426 dilated cardiomyopathy 1D
DOID:0110427 dilated cardiomyopathy 1V
DOID:0110428 dilated cardiomyopathy 1AA
DOID:0110429 dilated cardiomyopathy 1H
The Human Phenotype Ontology
Displaying entries 1 - 10 of 16 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000232 Everted lower lip vermilion
HP:0000253 Progressive microcephaly
HP:0000348 High forehead
HP:0001250 Seizure
HP:0001263 Global developmental delay
HP:0001276 Hypertonia
HP:0001338 Partial agenesis of the corpus callosum
HP:0001510 Growth delay
HP:0002521 Hypsarrhythmia
Displaying 1 entry
Disease ID Disease Name
OMIM:618959
  • developmental and epileptic encephalopathy, 88

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Last updated: August 19, 2024