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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Alpha-aminoadipic semialdehyde dehydrogenase
Summary
- UniProt ID
- P49419
- Gene Symbol
-
- ALDH7A1
- ATQ1
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- P49419
- PubChem
- P49419
- The Human Metabolome Database
- HMDBP00293
- The O-GlcNAc Database
- P49419
- O-GlcNAcAtlas
- P49419
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Cytoplasm
- Disease variant
- Epilepsy
- Mitochondrion
- NAD
- Nucleus
- Oxidoreductase
- Reference proteome
- Transit peptide
- Gene Ontology (GO)
| GO Term |
|---|
| cellular aldehyde metabolic process |
| sensory perception of sound |
| glycine betaine biosynthetic process from choline |
| choline catabolic process |
| GO Term |
|---|
| nucleus |
| extracellular exosome |
| mitochondrion |
| mitochondrial matrix |
| cytosol |
Sequence
MWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLEDNKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLFIHESIHDEVVNRLKKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHDASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGIVNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 331 |
|
|||
| 332 |
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Choline catabolism | Homo sapiens |
| Lysine catabolism | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| 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 | |
| DOID:0060680 | pigment dispersion syndrome | |
| DOID:0060744 | Pendred Syndrome |
