ID:AL7A1_HUMAN DESCRIPTION: RecName: Full=Alpha-aminoadipic semialdehyde dehydrogenase; Short=Alpha-AASA dehydrogenase; EC=1.2.1.31; AltName: Full=Aldehyde dehydrogenase family 7 member A1; EC=1.2.1.3; AltName: Full=Antiquitin-1; AltName: Full=Betaine aldehyde dehydrogenase; EC=1.2.1.8; AltName: Full=Delta1-piperideine-6-carboxylate dehydrogenase; Short=P6c dehydrogenase; Flags: Precursor; 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. CATALYTIC ACTIVITY: (S)-2-amino-6-oxohexanoate + NAD(P)(+) + H(2)O = L-2-aminoadipate + NAD(P)H. CATALYTIC ACTIVITY: Betaine aldehyde + NAD(+) + H(2)O = betaine + NADH. CATALYTIC ACTIVITY: An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=28.5 uM for nonanal; KM=5.3 uM for trans-2-nonenal; KM=39.1 uM for hexanal; KM=17.5 uM for octanal; KM=41.1 uM for betaine aldehyde; KM=169 uM for L-2-aminoadipate 6-semialdehyde; KM=530.2 uM for benzaldehyde; KM=647.4 uM for propanal; KM=7374.3 uM for glyceraldehyde; Vmax=364.9 nmol/min/mg enzyme toward nonanal; Vmax=34.9 nmol/min/mg enzyme toward trans-2-nonenal; Vmax=243.3 nmol/min/mg enzyme toward hexanal; Vmax=72.3 nmol/min/mg enzyme toward octanal; Vmax=101.4 nmol/min/mg enzyme toward betaine aldehyde; Vmax=276.2 nmol/min/mg enzyme toward L-2-aminoadipate 6- semialdehyde; Vmax=125.2 nmol/min/mg enzyme toward benzaldehyde; Vmax=69.9 nmol/min/mg enzyme toward propanal; Vmax=174 nmol/min/mg enzyme toward glyceraldehyde; PATHWAY: Amine and polyamine biosynthesis; betaine biosynthesis via choline pathway; betaine from betaine aldehyde: step 1/1. SUBUNIT: Homotetramer (By similarity). INTERACTION: Q12929:EPS8; NbExp=2; IntAct=EBI-726842, EBI-375576; SUBCELLULAR LOCATION: Mitochondrion. Nucleus. SUBCELLULAR LOCATION: Isoform 2: Cytoplasm, cytosol. TISSUE SPECIFICITY: Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung and tongue. DISEASE: Defects in ALDH7A1 are the cause of pyridoxine-dependent epilepsy (PDE) [MIM:266100]. PDE is characterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. SIMILARITY: Belongs to the aldehyde dehydrogenase family. SEQUENCE CAUTION: Sequence=AAC51935.1; Type=Frameshift; Positions=233, 268; Sequence=AAH02515.3; Type=Erroneous initiation; Sequence=AAH71712.1; Type=Erroneous initiation; Sequence=AAH73174.1; Type=Erroneous initiation; Sequence=BAG35366.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALDH7A1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P49419
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004029 aldehyde dehydrogenase (NAD) activity GO:0004043 L-aminoadipate-semialdehyde dehydrogenase activity GO:0005515 protein binding GO:0008802 betaine-aldehyde dehydrogenase activity GO:0016491 oxidoreductase activity GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor
Biological Process: GO:0006081 cellular aldehyde metabolic process GO:0006554 lysine catabolic process GO:0007605 sensory perception of sound GO:0008152 metabolic process GO:0019285 glycine betaine biosynthetic process from choline GO:0042426 choline catabolic process GO:0055114 oxidation-reduction process
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Sequence and Links to Tools and Databases 
Microarray Expression Data 
