ID:AL4A1_HUMAN DESCRIPTION: RecName: Full=Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial; Short=P5C dehydrogenase; EC=1.5.1.12; AltName: Full=Aldehyde dehydrogenase family 4 member A1; Flags: Precursor; 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. CATALYTIC ACTIVITY: (S)-1-pyrroline-5-carboxylate + NAD(P)(+) + 2 H(2)O = L-glutamate + NAD(P)H. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=100 uM for NAD; KM=32 uM for L-pyrroline-5-carboxylate; PATHWAY: Amino-acid degradation; L-proline degradation into L- glutamate; L-glutamate from L-proline: step 2/2. SUBUNIT: Homodimer. INTERACTION: Self; NbExp=2; IntAct=EBI-3926971, EBI-3926971; SUBCELLULAR LOCATION: Mitochondrion matrix. TISSUE SPECIFICITY: Highest expression is found in liver followed by skeletal muscle, kidney, heart, brain, placenta, lung and pancreas. DISEASE: Defects in ALDH4A1 are the cause of hyperprolinemia type 2 (HP-2) [MIM:239510]. HP-2 is 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. SIMILARITY: Belongs to the aldehyde dehydrogenase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALDH4A1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P30038
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0003842 1-pyrroline-5-carboxylate dehydrogenase activity GO:0004029 aldehyde dehydrogenase (NAD) activity GO:0009055 electron carrier activity GO:0016491 oxidoreductase activity GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor GO:0042802 identical protein binding
Biological Process: GO:0006560 proline metabolic process GO:0006562 proline catabolic process GO:0008152 metabolic process GO:0010133 proline catabolic process to glutamate GO:0019470 4-hydroxyproline catabolic process GO:0022900 electron transport chain GO:0046487 glyoxylate metabolic process GO:0055114 oxidation-reduction process
US Server
Sequence and Links to Tools and Databases 
Microarray Expression Data 
