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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:0110269 | cataract 3 multiple types | |
| DOID:0110270 | cataract 17 multiple types | |
| DOID:0110271 | cataract 23 | |
| DOID:0110272 | cataract 40 | |
| DOID:0110273 | autosomal dominant limb-girdle muscular dystrophy | |
| DOID:0110274 | autosomal recessive limb-girdle muscular dystrophy | |
| DOID:0110275 | autosomal recessive limb-girdle muscular dystrophy type 2A | |
| DOID:0110276 | autosomal recessive limb-girdle muscular dystrophy type 2B | |
| DOID:0110277 | autosomal recessive limb-girdle muscular dystrophy type 2C | |
| DOID:0110278 | autosomal recessive limb-girdle muscular dystrophy type 2D |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011097 | Epileptic spasm |
| HP:0011152 | Early onset absence seizures |
| HP:0011166 | Focal myoclonic seizure |
| HP:0011198 | EEG with generalized epileptiform discharges |
| HP:0011199 | EEG with generalized sharp slow waves |
| HP:0011968 | Feeding difficulties |
| HP:0012420 | Meconium stained amniotic fluid |
| HP:0012444 | Brain atrophy |
| HP:0012704 | Widened subarachnoid space |
| HP:0012758 | Neurodevelopmental delay |
| 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 |
|---|---|---|---|
| 114606883 | PODMU10434 | ||
| 107573911 | SINGR100368 | ||
| 106842819 | EQUAS04814 | ||
| 116835602 | CHEAB14836 | ||
| 105826344 | PROCO05196 | ||
| 103740420 | NANGA10585 | ||
| 116437647 | CORMO28272 | ||
| 115619661 | STRHB07849 |
