Gene
mdh1aa
- ID
- ZDB-GENE-040204-1
- Name
- malate dehydrogenase 1Aa, NAD (soluble)
- Symbol
- mdh1aa Nomenclature History
- Previous Names
-
- mdh1a
- MDH1b (1)
- fj05b08
- wu:fj05b08
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable L-malate dehydrogenase activity. Predicted to be involved in NADH metabolic process; dicarboxylic acid metabolic process; and tricarboxylic acid cycle. Predicted to act upstream of or within carbohydrate metabolic process and carboxylic acid metabolic process. Predicted to be active in cytosol. Is expressed in several structures, including digestive system; integument; mesoderm; pectoral fin; and sensory system. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 88. Orthologous to human MDH1 (malate dehydrogenase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:63941 (11 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 88 | Alliance | ?Developmental and epileptic encephalopathy 88 | 618959 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR001252 | Malate dehydrogenase, active site |
| Domain | IPR001236 | Lactate/malate dehydrogenase, N-terminal |
| Domain | IPR022383 | Lactate/malate dehydrogenase, C-terminal |
| Family | IPR001557 | L-lactate/malate dehydrogenase |
| Family | IPR010945 | Malate dehydrogenase, type 2 |
| Family | IPR011274 | Malate dehydrogenase, NAD-dependent, cytosolic |
| Homologous_superfamily | IPR015955 | Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal |
| Homologous_superfamily | IPR036291 | NAD(P)-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal | Lactate/malate dehydrogenase, C-terminal | Lactate/malate dehydrogenase, N-terminal | L-lactate/malate dehydrogenase | Malate dehydrogenase, active site | Malate dehydrogenase, NAD-dependent, cytosolic | Malate dehydrogenase, type 2 | NAD(P)-binding domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q7T3D9
|
305 | ||||||||
|
UniProtKB:A0A2R9YJL1
|
350 | ||||||||
|
UniProtKB:Q801E6
|
333 | ||||||||
|
UniProtKB:A0A8M1P861
|
354 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mdh1aa-201
(1)
|
Ensembl | 1,714 nt | ||
| mRNA |
mdh1aa-202
(1)
|
Ensembl | 1,472 nt | ||
| mRNA |
mdh1aa-204
(1)
|
Ensembl | 507 nt | ||
| mRNA |
mdh1aa-205
(1)
|
Ensembl | 363 nt | ||
| mRNA |
mdh1aa-206
(1)
|
Ensembl | 689 nt | ||
| ncRNA |
mdh1aa-003
(1)
|
Ensembl | 514 nt |
Interactions and Pathways
No data available
Plasmids
No data available