MGP Database

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MGP000254

UniProt Annotations

Entry Information
Gene Namealdehyde dehydrogenase 7 family, member A1
Protein EntryAL7A1_HUMAN
UniProt IDP49419
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=P49419-1; Sequence=Displayed; Name=2; IsoId=P49419-2; Sequence=VSP_038987; Name=3; IsoId=P49419-3; Sequence=VSP_038988; Note=No experimental confirmation available.; Name=4; IsoId=P49419-4; Sequence=VSP_045904, VSP_045905; Note=No experimental confirmation available.;
Biophysicochemical PropertiesKinetic parameters: KM=28.5 uM for nonanal {ECO:0000269|PubMed:20207735}; KM=5.3 uM for trans-2-nonenal {ECO:0000269|PubMed:20207735}; KM=39.1 uM for hexanal {ECO:0000269|PubMed:20207735}; KM=17.5 uM for octanal {ECO:0000269|PubMed:20207735}; KM=41.1 uM for betaine aldehyde {ECO:0000269|PubMed:20207735}; KM=169 uM for L-2-aminoadipate 6-semialdehyde {ECO:0000269|PubMed:20207735}; KM=530.2 uM for benzaldehyde {ECO:0000269|PubMed:20207735}; KM=647.4 uM for propanal {ECO:0000269|PubMed:20207735}; KM=7374.3 uM for glyceraldehyde {ECO:0000269|PubMed:20207735}; Vmax=364.9 nmol/min/mg enzyme toward nonanal {ECO:0000269|PubMed:20207735}; Vmax=34.9 nmol/min/mg enzyme toward trans-2-nonenal {ECO:0000269|PubMed:20207735}; Vmax=243.3 nmol/min/mg enzyme toward hexanal {ECO:0000269|PubMed:20207735}; Vmax=72.3 nmol/min/mg enzyme toward octanal {ECO:0000269|PubMed:20207735}; Vmax=101.4 nmol/min/mg enzyme toward betaine aldehyde {ECO:0000269|PubMed:20207735}; Vmax=276.2 nmol/min/mg enzyme toward L-2-aminoadipate 6- semialdehyde {ECO:0000269|PubMed:20207735}; Vmax=125.2 nmol/min/mg enzyme toward benzaldehyde {ECO:0000269|PubMed:20207735}; Vmax=69.9 nmol/min/mg enzyme toward propanal {ECO:0000269|PubMed:20207735}; Vmax=174 nmol/min/mg enzyme toward glyceraldehyde {ECO:0000269|PubMed:20207735};
Catalytic ActivityAn aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.
Catalytic ActivityBetaine aldehyde + NAD(+) + H(2)O = betaine + NADH.
Catalytic Activity(S)-2-amino-6-oxohexanoate + NAD(P)(+) + H(2)O = L-2-aminoadipate + NAD(P)H.
DiseasePyridoxine-dependent epilepsy (PDE) [MIM:266100]: 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. {ECO:0000269|PubMed:16491085, ECO:0000269|PubMed:17068770}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMultifunctional 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. {ECO:0000269|PubMed:16491085, ECO:0000269|PubMed:20207735}.
InteractionQ12929:EPS8; NbExp=2; IntAct=EBI-726842, EBI-375576;
PathwayAmine and polyamine biosynthesis; betaine biosynthesis via choline pathway; betaine from betaine aldehyde: step 1/1.
Sequence CautionSequence=AAC51935.1; Type=Frameshift; Positions=233, 268; Evidence={ECO:0000305}; Sequence=AAH02515.3; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH71712.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH73174.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG35366.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the aldehyde dehydrogenase family. {ECO:0000305}.
Subcellular LocationIsoform 2: Cytoplasm, cytosol.
Subcellular LocationMitochondrion {ECO:0000269|PubMed:20207735}. Nucleus {ECO:0000269|PubMed:20207735}.
SubunitHomotetramer. {ECO:0000250}.
Tissue SpecificityAbundant 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. {ECO:0000269|PubMed:8088832, ECO:0000269|PubMed:9417906}.
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