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

Publication

PubMed ID:
8088832 14702039 15372022 15489334 9417906 19413330 21269460 22223895 24275569 20207735 16491085 17068770