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MT000668

UniProt Annotations

Entry Information

Gene Name	aldehyde dehydrogenase 4 family, member A1
Protein Entry	AL4A1_HUMAN
UniProt ID	P30038
Species	Human

Comments

Comment type	Description
Alternative Products	Event=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 Properties	Kinetic parameters: KM=100 uM for NAD {ECO:0000269\|PubMed:22516612}; KM=32 uM for L-pyrroline-5-carboxylate {ECO:0000269\|PubMed:22516612};
Catalytic Activity	L-glutamate 5-semialdehyde + NAD(+) + H(2)O = L-glutamate + NADH. {ECO:0000269\|PubMed:22516612}.
Disease	Hyperprolinemia 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.
Function	Irreversible 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}.
Interaction	Self; NbExp=2; IntAct=EBI-3926971, EBI-3926971;
Pathway	Amino-acid degradation; L-proline degradation into L- glutamate; L-glutamate from L-proline: step 2/2. {ECO:0000269\|PubMed:22516612}.
Similarity	Belongs to the aldehyde dehydrogenase family. {ECO:0000305}.
Subcellular Location	Mitochondrion matrix.
Subunit	Homodimer. {ECO:0000269\|PubMed:22516612}.
Tissue Specificity	Highest expression is found in liver followed by skeletal muscle, kidney, heart, brain, placenta, lung and pancreas.