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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 mitochondrial matrix and the other in the cytoplasm. This gene encodes the cytosolic isozyme, which plays a key role in the malate-aspartate shuttle that allows malate to pass through the mitochondrial membrane to be transformed into oxaloacetate for further cellular processes. Alternatively spliced transcript variants have been found for this gene. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Pseudogenes have been identified on chromosomes X and 6. [provided by RefSeq, Feb 2016]
MDH1 (Malate Dehydrogenase 1) is a Protein Coding gene. Diseases associated with MDH1 include Developmental And Epileptic Encephalopathy 88 and Genetic Prion Disease. Among its related pathways are Glucose metabolism and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. An important paralog of this gene is MDH1B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004470 | malic enzyme activity | TAS | 8786100 |
GO:0005515 | protein binding | IPI | 21044950 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016615 | malate dehydrogenase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | HDA | 22664934 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005813 | centrosome | IDA | -- |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0070062 | extracellular exosome | HDA | 19056867 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glucose metabolism |
Glycolysis and gluconeogenesis (short map)
.58
.46
|
.35
|
2 | Citrate cycle (TCA cycle) |
.01
|
|
3 | Metabolism |
.40
|
|
4 | Carbon metabolism | ||
5 | Sulfur amino acid metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006094 | gluconeogenesis | TAS | -- |
GO:0006099 | tricarboxylic acid cycle | IEA,IBA | 21873635 |
GO:0006107 | oxaloacetate metabolic process | IEA,IBA | 21873635 |
GO:0006108 | malate metabolic process | IEA,IBA | 21873635 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
3-(3,5-Diiodo-4-hydroxyphenyl)lactate |
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3-(3,5-Diiodo-4-hydroxyphenyl)pyruvate |
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Hydrogen Ion |
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Oxalacetic acid |
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328-42-7 |
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ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | · | 13c |
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SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP7: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MDH1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MDH1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MDH1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MDH1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MDH1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mdh1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mdh1 30 |
|
||
Chicken (Gallus gallus) |
Aves | MDH1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MDH1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mdh1 30 |
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Str.84 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | MGC68659 30 |
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||
Zebrafish (Danio rerio) |
Actinopterygii | mdh1aa 31 |
|
OneToOne | |
mdh1b 30 |
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wufk59d03 30 |
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Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3779 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | CG5362 32 |
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Mdh1 30 31 |
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OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009510 30 |
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Worm (Caenorhabditis elegans) |
Secernentea | mdh-1 30 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G04410 30 |
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Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.7946 30 |
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Rice (Oryza sativa) |
Liliopsida | Os10g0478200 30 |
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Barley (Hordeum vulgare) |
Liliopsida | Hv.746 30 |
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Wheat (Triticum aestivum) |
Liliopsida | Ta.24987 30 |
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Corn (Zea mays) |
Liliopsida | Zm.5727 30 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8282 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4600 30 |
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
973504 | Pathogenic: Developmental and epileptic encephalopathy, 88 | 63,597,558(+) |
C/T NM_005917.4(MDH1):c.359C>T (p.Ala120Val) |
MISSENSE | |
VAR_083894 | Epileptic encephalopathy, early infantile, 88 (EIEE88) [MIM:618959] |
p.Ala120Val |
Disorder | Aliases | PubMed IDs |
---|---|---|
developmental and epileptic encephalopathy 88 |
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genetic prion disease |
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immunodeficiency 24 |
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tetanus neonatorum |
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retinitis pigmentosa |
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