Names & Taxonomy
- Uniprot ID:
- P49419
- Entry Name:
- AL7A1_HUMAN
- Status:
- reviewed
- Protein Names:
- Alpha-aminoadipic semialdehyde dehydrogenase (Alpha-AASA dehydrogenase) (EC 1.2.1.31) (Aldehyde dehydrogenase family 7 member A1) (EC 1.2.1.3) (Antiquitin-1) (Betaine aldehyde dehydrogenase) (EC 1.2.1.8) (Delta1-piperideine-6-carboxylate dehydrogenase) (P6c dehydrogenase)
- Gene Names:
- ALDH7A1 ATQ1
- Gene Names Primary:
- ALDH7A1
- Organism:
- Homo sapiens (Human)
Structure
- Length:
- 539
- Sequence:
- MWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLEDNKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLFIHESIHDEVVNRLKKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHDASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGIVNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ
- Proteomes:
- UP000005640
Subcellular location
- Subcellular Location:
- Cytoplasm, cytosol
Function
- Function:
- Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism.
- Pathway:
- Amine and polyamine biosynthesis; betaine biosynthesis via choline pathway; betaine from betaine aldehyde: step 1/1.
- Catalytic Activity:
- (S)-2-amino-6-oxohexanoate + NAD(P)(+) + H(2)O = L-2-aminoadipate + NAD(P)H.; Betaine aldehyde + NAD(+) + H(2)O = betaine + NADH.; An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.
- Kinetics:
- BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=28.5 uM for nonanal
- Active Site:
- ACT_SITE 296 296 Proton acceptor.
- Gene Ontology Go:
- cytoplasm
cytosol
extracellular exosome
mitochondrial matrix
mitochondrion
nucleus
aldehyde dehydrogenase (NAD) activity
betaine-aldehyde dehydrogenase activity
L-aminoadipate-semialdehyde dehydrogenase activity
cellular aldehyde metabolic process
cellular nitrogen compound metabolic process
glycine betaine biosynthetic process from choline
lysine catabolic process
sensory perception of sound
small molecule metabolic process - Gene Ontology Biological Process:
- cellular aldehyde metabolic process
cellular nitrogen compound metabolic process
glycine betaine biosynthetic process from choline
lysine catabolic process
sensory perception of sound
small molecule metabolic process - Gene Ontology Molecular Function:
- aldehyde dehydrogenase (NAD) activity
betaine-aldehyde dehydrogenase activity
L-aminoadipate-semialdehyde dehydrogenase activity - Gene Ontology Cellular Component:
- cytoplasm
cytosol
extracellular exosome
mitochondrial matrix
mitochondrion
nucleus - Keywords:
- 3D-structure
Acetylation
Alternative splicing
Complete proteome
Cytoplasm
Disease mutation
Epilepsy
Mitochondrion
NAD
Nucleus
Oxidoreductase
Polymorphism
Reference proteome
Transit peptide - Interacts With:
- Q12929