MGP Database

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MGP000121

UniProt Annotations

Entry Information
Gene Namealdehyde dehydrogenase 9 family, member A1
Protein EntryAL9A1_HUMAN
UniProt IDP49189
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P49189-1; Sequence=Displayed; Name=2; IsoId=P49189-2; Sequence=VSP_056305; Note=No experimental confirmation available.;
Biophysicochemical PropertiesKinetic parameters: KM=11 uM for 4-aminobutyraldehyde; pH dependence: Optimum pH is about 9.4 with propionaldehyde as substrate, and 7.5 with 4-aminobutyraldehyde as substrate.;
Catalytic Activity4-aminobutanal + NAD(+) + H(2)O = 4- aminobutanoate + NADH.
Catalytic Activity4-trimethylammoniobutanal + NAD(+) + H(2)O = 4-trimethylammoniobutanoate + NADH.
Catalytic ActivityAn aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.
Developmental StageStrongly expressed in human embryonic brain (gestational age 12 weeks).
FunctionConverts gamma-trimethylaminobutyraldehyde into gamma- butyrobetaine. Catalyzes the irreversible oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction. {ECO:0000269|PubMed:10702312}.
PathwayAmine and polyamine biosynthesis; carnitine biosynthesis.
Sequence CautionSequence=CAH74061.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the aldehyde dehydrogenase family. {ECO:0000305}.
Subcellular LocationCytoplasm {ECO:0000250}.
SubunitHomotetramer.
Tissue SpecificityHigh expression in adult liver, skeletal muscle, and kidney. Low levels in heart, pancreas, lung and brain. Expressed in all regions of the brain. Expression levels are variable in the different brain areas, with the highest levels in the spinal cord and the lowest in the occipital pole. {ECO:0000269|PubMed:8645224}.
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