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MT000050

UniProt Annotations

Entry Information

Gene Name	aldehyde dehydrogenase 7 family, member A1
Protein Entry	AL7A1_HUMAN
UniProt ID	P49419
Species	Human

Comments

Comment type	Description
Alternative Products	Event=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 Properties	Kinetic 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 Activity	An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.
Catalytic Activity	Betaine 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.
Disease	Pyridoxine-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.
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. {ECO:0000269\|PubMed:16491085, ECO:0000269\|PubMed:20207735}.
Interaction	Q12929:EPS8; NbExp=2; IntAct=EBI-726842, EBI-375576;
Pathway	Amine and polyamine biosynthesis; betaine biosynthesis via choline pathway; betaine from betaine aldehyde: step 1/1.
Sequence Caution	Sequence=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};
Similarity	Belongs to the aldehyde dehydrogenase family. {ECO:0000305}.
Subcellular Location	Isoform 2: Cytoplasm, cytosol.
Subcellular Location	Mitochondrion {ECO:0000269\|PubMed:20207735}. Nucleus {ECO:0000269\|PubMed:20207735}.
Subunit	Homotetramer. {ECO:0000250}.
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. {ECO:0000269\|PubMed:8088832, ECO:0000269\|PubMed:9417906}.