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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:0070519 | early-onset vitamin B6-dependent epilepsy 4 | |
| DOID:0080001 | bone disease | |
| DOID:0050439 | Usher syndrome | |
| DOID:0050572 | cone-rod dystrophy | |
| DOID:0050709 | early infantile epileptic encephalopathy | |
| DOID:0050819 | obsolete Matthew-Wood syndrome | |
| DOID:0050830 | peripheral artery disease | |
| DOID:0050865 | tongue squamous cell carcinoma | |
| DOID:0060171 | obsolete Dravet syndrome | |
| DOID:0060215 | Balo concentric sclerosis |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001557 | Prenatal movement abnormality |
| HP:0001943 | Hypoglycemia |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002119 | Ventriculomegaly |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002133 | Status epilepticus |
| HP:0002188 | Delayed CNS myelination |
| 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 |
|---|---|---|---|
| 102187125 | CAPHI27806 | ||
| 101108127 | SHEEP16531 | ||
| 105985276 | DIPOR05458 | ||
| 110695 | MGI:108186 | MOUSE23197 | |
| 291450 | RGD:1308614 | RATNO13258 | |
| 100732238 | CAVPO03749 | ||
| 101711696 | HETGA24681 | ||
| 100009965 | MONDO20425 | ||
| 102458471 | PELSI10070 | ||
| 100560663 | ANOCA18027 |
