Information on EC 1.2.1.31 - L-aminoadipate-semialdehyde dehydrogenase and Organism(s) Homo sapiens

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Homo sapiens


The expected taxonomic range for this enzyme is: Eukaryota, Bacteria


The taxonomic range for the selected organisms is: Homo sapiens

EC NUMBER
COMMENTARY hide
1.2.1.31
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RECOMMENDED NAME
GeneOntology No.
L-aminoadipate-semialdehyde dehydrogenase
REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
oxidation
redox reaction
-
-
-
-
reduction
PATHWAY
BRENDA Link
KEGG Link
MetaCyc Link
L-lysine degradation XI (mammalian)
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-
lysine metabolism
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-
Lysine degradation
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Metabolic pathways
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Biosynthesis of secondary metabolites
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Biosynthesis of antibiotics
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SYSTEMATIC NAME
IUBMB Comments
L-2-aminoadipate-6-semialdehyde:NAD(P)+ 6-oxidoreductase
(S)-2-amino-6-oxohexanoate undergoes a spontaneous dehydration forming the cyclic (S)-2,3,4,5-tetrahydropyridine-2-carboxylate, which serves as a substrate for the hydrogenation reaction.
CAS REGISTRY NUMBER
COMMENTARY hide
9067-87-2
-
ORGANISM
COMMENTARY hide
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
malfunction
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alpha-AASA dehydrogenase deficiency results in the accumulation of pathognomonic alpha-aminoadipic semialdehyde (in cerebrospinal fluid, plasma and urine) and pipecolic acid (cerebrospinal fluid and plasma) in affected patients
SUBSTRATE
PRODUCT                       
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
alpha-aminoadipic semialdehyde + NAD+ + H2O
alpha-aminoadipic acid + NADH + H+
show the reaction diagram
-
-
-
?
L-2-aminoadipate 6-semialdehyde + NAD(P)+ + H2O
L-2-aminoadipate + NAD(P)H + H+
show the reaction diagram
-
-
-
-
L-2-aminoadipate 6-semialdehyde + NAD+ + H2O
L-2-aminoadipate + NADH
show the reaction diagram
-
-
-
ir
L-alpha-aminoadipate-semialdehyde + NAD(P)+ + H2O
L-alpha-aminoadipate + NAD(P)H + H+
show the reaction diagram
-
-
-
-
?
NATURAL SUBSTRATES
NATURAL PRODUCTS
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
REVERSIBILITY
r=reversible
ir=irreversible
?=not specified
L-2-aminoadipate 6-semialdehyde + NAD(P)+ + H2O
L-2-aminoadipate + NAD(P)H + H+
show the reaction diagram
Q4L235
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-
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COFACTOR
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
IMAGE
NAD(P)+
-
-
pyrroloquinoline quinone
PQQ
METALS and IONS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
Cu2+
-
stimulates
Mg2+
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stimulates
Mn2+
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stimulates
INHIBITORS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
IMAGE
Disulfiram
0.01 mM
EDTA
-
-
FeCl3
-
-
KCN
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strongly inhibits, 75% inhibition
Pb(NO3)2
-
-
Sodium diphosphate
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-
ACTIVATING COMPOUND
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
IMAGE
2-mercaptoethanol
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10 mM, activates
dithiothreitol
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10 mM, activates
L-cysteine
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10 mM, activates
KM VALUE [mM]
SUBSTRATE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
IMAGE
0.181
L-2-aminoadipate 6-semialdehyde
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-
0.454
NAD+
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SPECIFIC ACTIVITY [µmol/min/mg]
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
0.00077
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cytosol fraction
pH OPTIMUM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
8
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in 0.2 M Tris-glycine buffer containing 5 mM beta-mercaptoethanol, L-alpha-aminoadipate-semialdehyde reduction
SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
SOURCE
colon adenocarcinoma, CX-1; colon adenocarcinoma, GI-112
Manually annotated by BRENDA team
lung carcinoma, GI-117; lung carcinoma, LX-1
Manually annotated by BRENDA team
ovarian carcinoma, GI-102
Manually annotated by BRENDA team
mRNA expression
Manually annotated by BRENDA team
prostatic adenocarcinoma, PC3
Manually annotated by BRENDA team
LOCALIZATION
ORGANISM
UNIPROT
COMMENTARY hide
GeneOntology No.
LITERATURE
SOURCE
POSTTRANSLATIONAL MODIFICATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
additional information
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homolog of the yeast Lys5 gene encodes alpha-aminoadipate dehydrogenase phosphopantetheinyl transferase activity, 26% identity and 44% similarity to the yeast counterpart
STORAGE STABILITY
ORGANISM
UNIPROT
LITERATURE
-20°C, 0.02 mM potassium phosphate buffer, pH 7.0, 5 mM 2-mercaptoethanol, 3 months
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Cloned/COMMENTARY
ORGANISM
UNIPROT
LITERATURE
cDNA is cloned from a human fetal library, library is constructed in a modified pBluescript II SK+ vector, cDNA insert is sequenced
one-step homologous recombination in Saccharomyces cerevisiae, expression of the human gene in the yeast rescues the lys5 knockout phenotype
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ENGINEERING
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
additional information
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alpha-AASA dehydrogenase deficiency is characterised by increases of alpha-aminoadipic semialdehyde in urine, plasma and cerebrospinal fluid
APPLICATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
medicine
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alpha-AASA dehydrogenase deficiency results in pyridoxine dependent epilepsy. Patients show pathogenic mutations in the ALDH7A1 gene. Increase of alpha-AASA in urine of patients with alpha-AASA dehydrogenase deficiency makes this biomarker preferable towards the measurement of pipecolic acid, which shows non-specificity