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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
Summary
- Gene Symbol
-
- IDH3A
- Aliases
-
- H-IDH alpha
- NAD(H)-specific isocitrate dehydrogenase alpha subunit
- NAD+-specific ICDH
- isocitrate dehydrogenase (NAD+) alpha chain
- isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial
- isocitric dehydrogenase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Direct protein sequencing
- Disease variant
- Magnesium
- Manganese
- Metal-binding
- Mitochondrion
- NAD
- Oxidoreductase
- Phosphoprotein
- Reference proteome
- Retinitis pigmentosa
- Transit peptide
- Tricarboxylic acid cycle
- Proteins
| UniProt | Protein Name |
|---|---|
| P50213 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| carbohydrate metabolic process | ||
| isocitrate metabolic process | ||
| tricarboxylic acid cycle |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleus | ||
| mitochondrial isocitrate dehydrogenase complex (NAD+) |
|
|
| mitochondrial matrix | ||
| mitochondrion |
| GO Term | Evidence Code | PMID |
|---|---|---|
| magnesium ion binding | ||
| isocitrate dehydrogenase (NAD+) activity | ||
| NAD binding | ||
| protein binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:331 | central nervous system disease | |
| DOID:0050572 | cone-rod dystrophy | |
| DOID:0050635 | alternating hemiplegia of childhood | |
| DOID:0050709 | early infantile epileptic encephalopathy | |
| DOID:0050782 | Zollinger-Ellison syndrome | |
| DOID:0112147 | retinitis pigmentosa 90 | |
| DOID:10003 | sensorineural hearing loss | |
| DOID:10124 | corneal disease | |
| DOID:10126 | keratoconus | |
| DOID:10141 | obsolete asthenopia |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000035 | Abnormal testis morphology |
| HP:0000135 | Hypogonadism |
| HP:0000405 | Conductive hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000486 | Strabismus |
| HP:0000501 | Glaucoma |
| HP:0000505 | Visual impairment |
| HP:0000512 | Abnormal electroretinogram |
| HP:0000543 | Optic disc pallor |
| Disease ID | Disease Name |
|---|---|
| ORPHA:791 |
|
| OMIM:619007 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 172655 | WB:WBGene00009664 | ||
| 32940 | FB:FBgn0027291 | ||
| 103188099 | CALMI03973 | ||
| 102349413 | LATCH02331 | ||
| 393926 | ZFIN:ZDB-GENE-040426-1007 | DANRE27145 | |
| 103040116 | ASTMX05122 | ||
| 100528472 | ICTPU06418 | ||
| 113573167 | ELEEL11155 | ||
| 115203571 | SALTR79467 | ||
| 115203580 | SALTR79467 |
