Property Summary

NCBI Gene PubMed Count 25
PubMed Score 191.07
PubTator Score 48.37

Knowledge Summary


No data available


  Differential Expression (14)

Disease log2 FC p
psoriasis 1.200 2.5e-03
osteosarcoma 2.336 6.5e-05
ependymoma 1.100 7.8e-09
group 3 medulloblastoma 1.500 3.6e-04
atypical teratoid/rhabdoid tumor 1.500 1.9e-08
medulloblastoma, large-cell 2.000 1.1e-06
non-small cell lung cancer 1.543 9.4e-23
lung cancer 2.200 2.8e-05
pediatric high grade glioma 1.100 4.0e-06
pilocytic astrocytoma 1.100 5.1e-06
lung adenocarcinoma 1.300 2.9e-11
invasive ductal carcinoma 1.200 1.1e-03
ulcerative colitis -1.300 9.5e-10
ovarian cancer 2.800 2.5e-05

 GWAS Trait (1)

Gene RIF (13)

26320891 Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
26026163 autosomal recessive transmission of ALDH18A1 mutations, and predominant complex hereditary spastic paraplegia with marked cognitive impairment
24913064 A frameshift deletion of one nucleotide and a microdeletion affecting the ALDH18A1 gene, respectively, in a homozygous state in both patients, was identified.
23125841 Tandem affinity purification and mass spectrometry analysis identify aldehyde dehydrogenase 18 family member A1 (ALDH18A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
21739576 expansion of the phenotypic spectrum associated with mutations in ALDH18A1
20946940 ALDH18A1 genetic variants are associated with Down syndrome in subjects with dementia of Alzheimer's disease.
20946940 Observational study of gene-disease association. (HuGE Navigator)
20877624 Observational study of gene-disease association. (HuGE Navigator)
20819778 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
18478038 These data suggest that P5CS may possess additional uncharacterised functions that affect connective tissue and central nervous system function.
18401542 analysis of function and regulation of Delta1-pyrroline-5-carboxylate synthase
16385451 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

VSDFSEHGSLKYLHENLPIPQRNTN                                                 771 - 795

Text Mined References (31)

PMID Year Title
26320891 2015 Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
26297558 2016 ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
26026163 2015 Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25416956 2014 A proteome-scale map of the human interactome network.
24913064 2014 Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24767728 2014 Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22170564 2012 Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.
21739576 2011 Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding ?¹-pyrroline-5-carboxylate synthase (P5CS).
21269460 2011 Initial characterization of the human central proteome.
20946940 2011 Association of variants within APOE, SORL1, RUNX1, BACE1 and ALDH18A1 with dementia in Alzheimer's disease in subjects with Down syndrome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20819778 2010 MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
18478038 2008 A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
18401542 2008 Human Delta1-pyrroline-5-carboxylate synthase: function and regulation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
15517380 2005 Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11092761 2000 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.
10037775 1999 Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition.
8921385 1996 Assignment of the human gene encoding the delta 1-pyrroline-5-carboxylate synthetase (P5CS) to 10q24.3 by in situ hybridization.
8761662 1996 Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.