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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:0110249 | cataract 11 multiple types | |
| DOID:0110250 | cataract 16 multiple types | |
| DOID:0110251 | cataract 15 multiple types | |
| DOID:0110252 | cataract 37 | |
| DOID:0110253 | cataract 14 multiple types | |
| DOID:0110254 | cataract 25 | |
| DOID:0110255 | cataract 5 multiple types | |
| DOID:0110256 | cataract 21 multiple types | |
| DOID:0110257 | cataract 24 | |
| DOID:0110258 | cataract 10 multiple types |
- 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 |
|---|---|---|---|
| 447522 | Xenbase:XB-GENE-866115 | ||
| 108707197 | Xenbase:XB-GENE-17339448 | ||
| 549131 | Xenbase:XB-GENE-492001 | ||
| 101937973 | CHRPI24441 | ||
| 109323589 | CROPO12893 | ||
| 100074256 | ORNAN31755 | ||
| 100930576 | SARHA02452 | ||
| 100410565 | CALJA25410 | ||
| 101019039 | PAPAN32179 | ||
| 100970731 | PANPA32414 |
