Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
1.1.1.37
Oxidoreductases;
Acting on the CH-OH group of donors;
With NAD+ or NADP+ as acceptor;
malate dehydrogenase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 2DFD | 1.9 | Crystal Structure of Human Malate Dehydrogenase Type 2 |
| 4WLE | 1.9 | Crystal structure of citrate bound MDH2 |
| 4WLF | 2.2 | Crystal structure of L-malate bound MDH2 |
| 4WLN | 2.28 | Crystal structure of apo MDH2 |
| 4WLO | 2.5 | Crystal structure of oxaloacetate and NADH bound MDH2 |
| 4WLU | 2.14 | Crystal structure of L-malate and NAD bound MDH2 |
| 4WLV | 2.4 | Crystal structure of NAD bound MDH2 |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006734 | NADH metabolic process |
| Biological Process | GO:0009060 | aerobic respiration |
| Biological Process | GO:0006094 | gluconeogenesis |
| Biological Process | GO:0006108 | malate metabolic process |
| Biological Process | GO:0006107 | oxaloacetate metabolic process |
| Biological Process | GO:0006099 | tricarboxylic acid cycle |
| Molecular Function | GO:0030060 | L-malate dehydrogenase activity |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0046554 | malate dehydrogenase (NADP+) activity |
| Molecular Function | GO:0043621 | protein self-association |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0005634 | nucleus |
| InterPro
|
InterPro name |
|---|---|
| IPR001236 | Lactate/malate dehydrogenase, N-terminal |
| IPR001252 | Malate dehydrogenase, active site |
| IPR001557 | L-lactate/malate dehydrogenase |
| IPR010097 | Malate dehydrogenase, type 1 |
| IPR015955 | Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal |
| IPR022383 | Lactate/malate dehydrogenase, C-terminal |
| IPR036291 | NAD(P)-binding domain superfamily |
| Pfam
|
Pfam name |
|---|---|
| PF00056 | lactate/malate dehydrogenase, NAD binding domain |
| PF02866 | lactate/malate dehydrogenase, alpha/beta C-terminal domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-70263 | Gluconeogenesis | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-71403 | Citric acid cycle (TCA cycle) | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Mitochondrion matrix | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000093 | Proteinuria |
| HP:0000096 | Glomerular sclerosis |
| HP:0000405 | Conductive hearing impairment |
| HP:0000486 | Strabismus |
| HP:0000510 | Rod-cone dystrophy |
| HP:0000526 | Aniridia |
| HP:0000740 | Episodic paroxysmal anxiety |
| HP:0000790 | Hematuria |
| HP:0000817 | Reduced eye contact |
| HP:0000980 | Pallor |
| HP:0001069 | Episodic hyperhidrosis |
| HP:0001095 | Hypertensive retinopathy |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001272 | Cerebellar atrophy |
| HP:0001293 | Cranial nerve compression |
| HP:0001324 | Muscle weakness |
| HP:0001332 | Dystonia |
| HP:0001337 | Tremor |
| HP:0001342 | Cerebral hemorrhage |
| HP:0001344 | Absent speech |
| HP:0001508 | Failure to thrive |
| HP:0001605 | Vocal cord paralysis |
| HP:0001618 | Dysphonia |
| HP:0001635 | Congestive heart failure |
| HP:0001824 | Weight loss |
| HP:0001962 | Palpitations |
| HP:0002018 | Nausea |
| HP:0002019 | Constipation |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002151 | Increased serum lactate |
| HP:0002188 | Delayed CNS myelination |
| HP:0002331 | Recurrent paroxysmal headache |
| HP:0002421 | Poor head control |
| HP:0002490 | Increased CSF lactate |
| HP:0002540 | Inability to walk |
| HP:0002558 | Supernumerary nipple |
| HP:0002574 | Episodic abdominal pain |
| HP:0002640 | Hypertension associated with pheochromocytoma |
| HP:0002668 | Paraganglioma |
| HP:0002864 | Paraganglioma of head and neck |
| HP:0003072 | Hypercalcemia |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003345 | Elevated urinary norepinephrine |
| HP:0003487 | Babinski sign |
| HP:0003528 | Elevated calcitonin |
| HP:0003574 | Positive regitine blocking test |
| HP:0003593 | Infantile onset |
| HP:0003623 | Neonatal onset |
| HP:0003639 | Elevated urinary epinephrine |
| HP:0005584 | Renal cell carcinoma |
| HP:0006737 | Extraadrenal pheochromocytoma |
| HP:0006748 | Adrenal pheochromocytoma |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0007359 | Focal-onset seizure |
| HP:0007371 | Corpus callosum atrophy |
| HP:0008629 | Pulsatile tinnitus |
| HP:0009711 | Retinal capillary hemangioma |
| HP:0010532 | Paroxysmal vertigo |
| HP:0010818 | Generalized tonic seizure |
| HP:0011097 | Epileptic spasm |
| HP:0011703 | Sinus tachycardia |
| HP:0011968 | Feeding difficulties |
| HP:0011979 | Elevated urinary dopamine |
| HP:0012222 | Arachnoid hemangiomatosis |
| HP:0012378 | Fatigue |
| HP:0025269 | Panic attack |
| HP:0025336 | Delayed ability to sit |
| HP:0031284 | Flushing |
| HP:0032653 | Elevated lactate:pyruvate ratio |
| HP:0032794 | Myoclonic seizure |
| HP:0033128 | Delayed ability to crawl |
| HP:0100660 | Dyskinesia |
| HP:0100749 | Chest pain |
| HP:0200134 | Epileptic encephalopathy |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Enhanced |
| adrenal gland | glandular cells | High | Enhanced |
| appendix | glandular cells | High | Enhanced |
| appendix | lymphoid tissue | Medium | Enhanced |
| bone marrow | hematopoietic cells | Medium | Enhanced |
| breast | adipocytes | Medium | Enhanced |
| breast | glandular cells | High | Enhanced |
| breast | myoepithelial cells | High | Enhanced |
| bronchus | respiratory epithelial cells | High | Enhanced |
| caudate | glial cells | High | Enhanced |
| caudate | neuronal cells | Medium | Enhanced |
| cerebellum | Purkinje cells | High | Enhanced |
| cerebellum | cells in granular layer | High | Enhanced |
| cerebellum | cells in molecular layer | Medium | Enhanced |
| cerebral cortex | endothelial cells | Medium | Enhanced |
| cerebral cortex | glial cells | Medium | Enhanced |
| cerebral cortex | neuronal cells | High | Enhanced |
| cerebral cortex | neuropil | Medium | Enhanced |
| cervix | glandular cells | High | Enhanced |
| cervix | squamous epithelial cells | Medium | Enhanced |
| colon | endothelial cells | Medium | Enhanced |
| colon | glandular cells | High | Enhanced |
| colon | peripheral nerve/ganglion | Medium | Enhanced |
| duodenum | glandular cells | High | Enhanced |
| endometrium 1 | cells in endometrial stroma | Medium | Enhanced |
| endometrium 1 | glandular cells | High | Enhanced |
| endometrium 2 | cells in endometrial stroma | Medium | Enhanced |
| endometrium 2 | glandular cells | High | Enhanced |
| epididymis | glandular cells | Medium | Enhanced |
| esophagus | squamous epithelial cells | High | Enhanced |
| fallopian tube | glandular cells | High | Enhanced |
| gallbladder | glandular cells | High | Enhanced |
| heart muscle | cardiomyocytes | High | Enhanced |
| hippocampus | glial cells | Medium | Enhanced |
| hippocampus | neuronal cells | High | Enhanced |
| kidney | bowman's capsule | High | Enhanced |
| kidney | cells in glomeruli | Medium | Enhanced |
| kidney | collecting ducts | High | Enhanced |
| kidney | distal tubules | High | Enhanced |
| kidney | proximal tubules (cell body) | High | Enhanced |
| liver | cholangiocytes | Medium | Enhanced |
| liver | hepatocytes | High | Enhanced |
| lung | alveolar cells type I | High | Enhanced |
| lung | alveolar cells type II | High | Enhanced |
| lung | macrophages | High | Enhanced |
| lymph node | germinal center cells | High | Enhanced |
| lymph node | non-germinal center cells | High | Enhanced |
| nasopharynx | respiratory epithelial cells | High | Enhanced |
| oral mucosa | squamous epithelial cells | Medium | Enhanced |
| ovary | follicle cells | High | Enhanced |
| ovary | ovarian stroma cells | Medium | Enhanced |
| pancreas | exocrine glandular cells | High | Enhanced |
| pancreas | pancreatic endocrine cells | High | Enhanced |
| parathyroid gland | glandular cells | High | Enhanced |
| placenta | decidual cells | Medium | Enhanced |
| placenta | trophoblastic cells | High | Enhanced |
| prostate | glandular cells | High | Enhanced |
| rectum | glandular cells | High | Enhanced |
| salivary gland | glandular cells | High | Enhanced |
| seminal vesicle | glandular cells | High | Enhanced |
| skeletal muscle | myocytes | Medium | Enhanced |
| skin 1 | cells in basal layer | Medium | Enhanced |
| skin 1 | cells in granular layer | Medium | Enhanced |
| skin 1 | cells in spinous layer | Medium | Enhanced |
| skin 1 | endothelial cells | High | Enhanced |
| skin 1 | fibrohistiocytic cells | High | Enhanced |
| skin 1 | hair follicles | Medium | Enhanced |
| skin 1 | langerhans cells | Medium | Enhanced |
| skin 1 | lymphocytes | High | Enhanced |
| skin 1 | melanocytes | High | Enhanced |
| skin 2 | cells in basal layer | High | Enhanced |
| skin 2 | cells in granular layer | Medium | Enhanced |
| skin 2 | cells in spinous layer | High | Enhanced |
| skin 2 | endothelial cells | Low | Enhanced |
| skin 2 | fibrohistiocytic cells | High | Enhanced |
| skin 2 | langerhans cells | High | Enhanced |
| skin 2 | lymphocytes | High | Enhanced |
| skin 2 | melanocytes | High | Enhanced |
| small intestine | glandular cells | High | Enhanced |
| smooth muscle | smooth muscle cells | Low | Enhanced |
| soft tissue 1 | fibroblasts | Medium | Enhanced |
| soft tissue 2 | chondrocytes | Low | Enhanced |
| soft tissue 2 | fibroblasts | Medium | Enhanced |
| soft tissue 2 | peripheral nerve | Medium | Enhanced |
| spleen | cells in red pulp | High | Enhanced |
| spleen | cells in white pulp | High | Enhanced |
| stomach 1 | glandular cells | High | Enhanced |
| stomach 2 | glandular cells | High | Enhanced |
| testis | Leydig cells | High | Enhanced |
| testis | elongated or late spermatids | High | Enhanced |
| testis | pachytene spermatocytes | Medium | Enhanced |
| testis | preleptotene spermatocytes | High | Enhanced |
| testis | round or early spermatids | High | Enhanced |
| testis | sertoli cells | High | Enhanced |
| testis | spermatogonia cells | High | Enhanced |
| thyroid gland | glandular cells | High | Enhanced |
| tonsil | germinal center cells | High | Enhanced |
| tonsil | non-germinal center cells | High | Enhanced |
| tonsil | squamous epithelial cells | Medium | Enhanced |
| urinary bladder | urothelial cells | High | Enhanced |
| vagina | squamous epithelial cells | Medium | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| developmental and epileptic encephalopathy, 51 | MONDO:0015025 | G40 | chapter6, Diseases of the nervous system | OMIM:617339 | |
| hereditary pheochromocytoma-paraganglioma | MONDO:0017366 | C74 | chapter2, Neoplasms | Orphanet:29072 | |
| hereditary pheochromocytoma-paraganglioma | MONDO:0017366 | C75 | chapter2, Neoplasms | Orphanet:29072 | |
| hereditary pheochromocytoma-paraganglioma | MONDO:0017366 | D35 | chapter2, Neoplasms | Orphanet:29072 |