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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
aldehyde dehydrogenase 7 family member A1
Summary
- Gene Symbol
-
- ALDH7A1
- Aliases
-
- 26g turgor protein homolog
- EPD
- P6c dehydrogenase
- PDE
- alpha-AASA dehydrogenase
- alpha-aminoadipic semialdehyde dehydrogenase
- antiquitin 1
- delta1-piperideine-6-carboxylate dehydrogenease
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Cytoplasm
- Disease variant
- Epilepsy
- Mitochondrion
- NAD
- Nucleus
- Oxidoreductase
- Reference proteome
- Transit peptide
- Proteins
| UniProt | Protein Name |
|---|---|
| P49419 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| glycine betaine biosynthetic process from choline | ||
| choline catabolic process |
|
|
| sensory perception of sound |
|
|
| cellular aldehyde metabolic process |
GO Hierarchy
biological process
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleus | ||
| cytosol | ||
| mitochondrial matrix |
|
|
| mitochondrion | ||
| extracellular exosome |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| L-aminoadipate-semialdehyde dehydrogenase activity | ||
| glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity | ||
| aldehyde dehydrogenase (NAD+) activity | ||
| betaine-aldehyde dehydrogenase activity | ||
| protein binding |
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:0110302 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1C | |
| DOID:0110303 | autosomal dominant limb-girdle muscular dystrophy type 1H | |
| DOID:0110304 | autosomal dominant limb-girdle muscular dystrophy type 2 | |
| DOID:0110305 | autosomal dominant limb-girdle muscular dystrophy type 1 | |
| DOID:0110306 | autosomal dominant limb-girdle muscular dystrophy type 3 | |
| DOID:0110425 | dilated cardiomyopathy 1A | |
| DOID:0110826 | Usher syndrome type 1 | |
| DOID:10127 | cerebral artery occlusion | |
| DOID:10283 | prostate cancer | |
| DOID:10286 | prostate carcinoma |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002280 | Enlarged cisterna magna |
| HP:0002521 | Hypsarrhythmia |
| HP:0002643 | Neonatal respiratory distress |
| HP:0003128 | Lactic acidosis |
| HP:0003623 | Neonatal onset |
| HP:0007359 | Focal-onset seizure |
| HP:0010819 | Atonic seizure |
| HP:0010841 | Multifocal epileptiform discharges |
| HP:0010845 | EEG with generalized slow activity |
| HP:0010851 | EEG with burst suppression |
| Disease ID | Disease Name |
|---|---|
| OMIM:266100 |
|
| ORPHA:3006 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP000347
- Gene Name
- aldehyde dehydrogenase 7 family, member A1
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 114048349 | VOMUR19282 | ||
| 100961474 | OTOGA03419 | ||
| 102018524 | CHILA22037 | ||
| 110223911 | PHACI00245 | ||
| 101965063 | ICTTR07570 | ||
| 101613765 | JACJA21079 | ||
| 102441975 | MYOLU00075 | ||
| 117024968 | RHIFE12306 | ||
| 101806923 | FICAL11691 | ||
| 100583462 | NOMLE26203 |
