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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:0110279 | autosomal recessive limb-girdle muscular dystrophy type 2E | |
| DOID:0110280 | autosomal recessive limb-girdle muscular dystrophy type 2F | |
| DOID:0110281 | autosomal recessive limb-girdle muscular dystrophy type 2G | |
| DOID:0110282 | autosomal recessive limb-girdle muscular dystrophy type 2H | |
| DOID:0110283 | autosomal recessive limb-girdle muscular dystrophy type 2J | |
| DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
| DOID:0110285 | autosomal recessive limb-girdle muscular dystrophy type 2Q | |
| DOID:0110286 | obsolete autosomal recessive limb-girdle muscular dystrophy type 2R | |
| DOID:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S | |
| DOID:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y |
- 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 |
|---|---|---|---|
| 175820 | WB:WBGene00000115 | ||
| 40097 | FB:FBgn0036857 | ||
| 100184485 | CIOIN16027 | ||
| 334197 | ZFIN:ZDB-GENE-030131-6129 | DANRE01232 | |
| 103034062 | ASTMX08198 | ||
| 108277325 | ICTPU08819 | ||
| 113589019 | ELEEL42316 | ||
| 100194754 | SALSA64526 | ||
| 115160058 | SALTR69031 | ||
| 101157525 | ORYLA13056 |
