ID:P5CS_HUMAN DESCRIPTION: RecName: Full=Delta-1-pyrroline-5-carboxylate synthase; Short=P5CS; AltName: Full=Aldehyde dehydrogenase family 18 member A1; Includes: RecName: Full=Glutamate 5-kinase; Short=GK; EC=2.7.2.11; AltName: Full=Gamma-glutamyl kinase; Includes: RecName: Full=Gamma-glutamyl phosphate reductase; Short=GPR; EC=1.2.1.41; AltName: Full=Glutamate-5-semialdehyde dehydrogenase; AltName: Full=Glutamyl-gamma-semialdehyde dehydrogenase; FUNCTION: Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine. CATALYTIC ACTIVITY: ATP + L-glutamate = ADP + L-glutamate 5- phosphate. CATALYTIC ACTIVITY: L-glutamate 5-semialdehyde + phosphate + NADP(+) = L-glutamyl 5-phosphate + NADPH. ENZYME REGULATION: Isoform Short is inhibited by L-ornithine with a Ki of approximately 0.25 mm. Isoform Long is insensitive to ornithine inhibition. This is due to the two amino acid insert which abolishes feedback inhibition of P5CS activity by L- ornithine. PATHWAY: Amino-acid biosynthesis; L-proline biosynthesis; L- glutamate 5-semialdehyde from L-glutamate: step 1/2. PATHWAY: Amino-acid biosynthesis; L-proline biosynthesis; L- glutamate 5-semialdehyde from L-glutamate: step 2/2. SUBCELLULAR LOCATION: Mitochondrion inner membrane. DISEASE: Defects in ALDH18A1 are the cause of cutis laxa, autosomal recessive, type 3A (ARCL3A) [MIM:219150]. A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities. SIMILARITY: In the N-terminal section; belongs to the glutamate 5- kinase family. SIMILARITY: In the C-terminal section; belongs to the gamma- glutamyl phosphate reductase family. SEQUENCE CAUTION: Sequence=BAH12086.1; Type=Erroneous initiation; Sequence=BAH13064.1; Type=Erroneous initiation;
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 P54886
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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:0000166 nucleotide binding GO:0003723 RNA binding GO:0003824 catalytic activity GO:0004349 glutamate 5-kinase activity GO:0004350 glutamate-5-semialdehyde dehydrogenase activity GO:0005515 protein binding GO:0005524 ATP binding GO:0016301 kinase activity GO:0016491 oxidoreductase activity GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor GO:0016740 transferase activity GO:0017084 delta1-pyrroline-5-carboxylate synthetase activity GO:0042802 identical protein binding
Biological Process: GO:0006536 glutamate metabolic process GO:0006561 proline biosynthetic process GO:0006592 ornithine biosynthetic process GO:0008152 metabolic process GO:0008652 cellular amino acid biosynthetic process GO:0016310 phosphorylation GO:0019240 citrulline biosynthetic process GO:0055114 oxidation-reduction process GO:0055129 L-proline biosynthetic process
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
