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MGP003635

UniProt Annotations

Entry Information
Gene Namealdehyde dehydrogenase 4 family, member A1
Protein EntryAL4A1_HUMAN
UniProt IDP30038
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P30038-1; Sequence=Displayed; Name=2; IsoId=P30038-2; Sequence=VSP_043785; Name=3; IsoId=P30038-3; Sequence=VSP_047732;
Biophysicochemical PropertiesKinetic parameters: KM=100 uM for NAD {ECO:0000269|PubMed:22516612}; KM=32 uM for L-pyrroline-5-carboxylate {ECO:0000269|PubMed:22516612};
Catalytic ActivityL-glutamate 5-semialdehyde + NAD(+) + H(2)O = L-glutamate + NADH. {ECO:0000269|PubMed:22516612}.
DiseaseHyperprolinemia 2 (HP-2) [MIM:239510]: Characterized by the accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. The disorder may be causally related to neurologic manifestations, including seizures and mental retardation. {ECO:0000269|PubMed:9700195}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionIrreversible conversion of delta-1-pyrroline-5- carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes. {ECO:0000269|PubMed:22516612}.
InteractionSelf; NbExp=2; IntAct=EBI-3926971, EBI-3926971;
PathwayAmino-acid degradation; L-proline degradation into L- glutamate; L-glutamate from L-proline: step 2/2. {ECO:0000269|PubMed:22516612}.
SimilarityBelongs to the aldehyde dehydrogenase family. {ECO:0000305}.
Subcellular LocationMitochondrion matrix.
SubunitHomodimer. {ECO:0000269|PubMed:22516612}.
Tissue SpecificityHighest expression is found in liver followed by skeletal muscle, kidney, heart, brain, placenta, lung and pancreas.
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