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MT000028

UniProt Annotations

Entry Information

Gene Name	aldehyde dehydrogenase 9 family, member A1
Protein Entry	AL9A1_HUMAN
UniProt ID	P49189
Species	Human

Comments

Comment type	Description
Alternative Products	Event=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 Properties	Kinetic 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 Activity	4-aminobutanal + NAD(+) + H(2)O = 4- aminobutanoate + NADH.
Catalytic Activity	4-trimethylammoniobutanal + NAD(+) + H(2)O = 4-trimethylammoniobutanoate + NADH.
Catalytic Activity	An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.
Developmental Stage	Strongly expressed in human embryonic brain (gestational age 12 weeks).
Function	Converts 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}.
Pathway	Amine and polyamine biosynthesis; carnitine biosynthesis.
Sequence Caution	Sequence=CAH74061.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Similarity	Belongs to the aldehyde dehydrogenase family. {ECO:0000305}.
Subcellular Location	Cytoplasm {ECO:0000250}.
Subunit	Homotetramer.
Tissue Specificity	High 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}.