Aldehyde dehydrogenase 18 family, member A1

PDB rendering based on 2h5g.

Available structures
PDB	2h5g

Identifiers

Symbols

ALDH18A1; GSAS; MGC117316; P5CS; PYCS

External IDs

OMIM: 138250 MGI: 1888908 HomoloGene: 2142 GeneCards: ALDH18A1 Gene

Gene Ontology
Molecular function	• nucleotide binding • glutamate 5-kinase activity • glutamate-5-semialdehyde dehydrogenase activity • ATP binding • kinase activity • oxidoreductase activity • transferase activity
Cellular component	• cytoplasm • mitochondrion • mitochondrial inner membrane • membrane
Biological process	• proline biosynthetic process • cellular amino acid biosynthetic process • cellular nitrogen compound metabolic process
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 10:
97.37 – 97.42 Mb

Chr 19:
40.62 – 40.66 Mb

PubMed search

[1]

[2]

Delta-1-pyrroline-5-carboxylate synthetase is an enzyme that in humans is encoded by the ALDH18A1 gene.^[1]^[2]

This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene.^[2]

References

^ Liu G, Maunoury C, Kamoun P, Aral B (Feb 1997). "Assignment of the human gene encoding the delta 1-pyrroline-5-carboxylate synthetase (P5CS) to 10q24.3 by in situ hybridization". Genomics 37 (1): 145–6. doi:10.1006/geno.1996.0535. PMID 8921385.
^ ^a ^b "Entrez Gene: ALDH18A1 aldehyde dehydrogenase 18 family, member A1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5832.

Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Aral B, Schlenzig JS, Liu G, Kamoun P (1996). "Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis.". C. R. Acad. Sci. III, Sci. Vie 319 (3): 171–8. PMID 8761662.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Hu CA, Lin WW, Obie C, Valle D (1999). "Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition.". J. Biol. Chem. 274 (10): 6754–62. doi:10.1074/jbc.274.10.6754. PMID 10037775.
Baumgartner MR, Hu CA, Almashanu S, et al. (2001). "Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.". Hum. Mol. Genet. 9 (19): 2853–8. doi:10.1093/hmg/9.19.2853. PMID 11092761.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10.". Nature 429 (6990): 375–81. doi:10.1038/nature02462. PMID 15164054.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
Baumgartner MR, Rabier D, Nassogne MC, et al. (2005). "Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.". Eur. J. Pediatr. 164 (1): 31–6. doi:10.1007/s00431-004-1545-3. PMID 15517380.

PDB gallery

2h5g: Crystal structure of human pyrroline-5-carboxylate synthetase

Aldehyde dehydrogenase 18 family, member A1

References

Further reading