Property Summary

NCBI Gene PubMed Count 24
PubMed Score 327.26
PubTator Score 189.89

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
psoriasis 1.500 8.7e-04
osteosarcoma 1.813 6.8e-04
medulloblastoma, large-cell 1.800 2.4e-05
non-small cell lung cancer 1.819 4.0e-25
lung cancer 1.500 4.5e-04
breast carcinoma 1.700 6.8e-04
fibroadenoma 1.800 1.9e-02
lung adenocarcinoma 2.800 3.6e-21
primary Sjogren syndrome -1.100 2.0e-02
Breast cancer 1.700 6.7e-06
ductal carcinoma in situ 1.100 1.3e-04
invasive ductal carcinoma 1.800 5.2e-05
ovarian cancer 1.100 8.2e-05

Protein-protein Interaction (4)

Gene RIF (11)

PMID Text
24431009 confirming that indeed PYCR1 generates L-pipecolic acid from Delta(1)-piperideine-6-carboxylate
24035636 our current study presents the second largest group of patients with PYCR1-related ARCL and expands the clinical and genetic spectrum.
23743200 Data suggest that DJ-1 and PYCR1 are on the same pathway of anti-oxidative stress protection of the cells.
23531708 Identification of two new mutations in the PYCR1 gene in patients with autosomal recessive cutis laxa, type 2.
22052856 The findings presented here suggest a mutation screening of PYCR1 and cardiovascular survey in patients with De Barsy syndrome (DBS).
21567914 A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.
21487760 Mutation analysis revealed the presence of disease-causing variants in PYCR1, including a novel deletion of the entire PYCR1 gene in one family, and in each of the other patients the homozygous missense mutations.
21204221 The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than ARCL2B.
19648921 Mutations in PYCR1 cause cutis laxa with progeroid features.
19576563 In Autosomal-recessive cutis laxa type 2, a single nucleotide change leads to a missense mutation adjacent to a splice junction in the gene encoding PYCR1.
16730026 Mutagenesis and kinetic studies reveal the pivotal roles of the dinucleotide-binding Rossmann motif and residue Glu221 in the human enzyme Pyrroline-5-carboxylate reductase(P5CR).

AA Sequence

MSVGFIGAGQLAFALAKGFTAAGVLAAHKIMASSPDMDLATVSALRKMGVKLTPHNKETVQHSDVLFLAV      1 - 70
KPHIIPFILDEIGADIEDRHIVVSCAAGVTISSIEKKLSAFRPAPRVIRCMTNTPVVVREGATVYATGTH     71 - 140
AQVEDGRLMEQLLSSVGFCTEVEEDLIDAVTGLSGSGPAYAFTALDALADGGVKMGLPRRLAVRLGAQAL    141 - 210
LGAAKMLLHSEQHPGQLKDNVSSPGGATIHALHVLESGGFRSLLINAVEASCIRTRELQSMADQEQVSPA    211 - 280
AIKKTILDKVKLDSPAGTALSPSGHTKLLPRSLAPAGKD                                   281 - 319
//

Text Mined References (31)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24431009 2014 Human pyrroline-5-carboxylate reductase (PYCR1) acts on ?(1)-piperideine-6-carboxylate generating L-pipecolic acid.
24035636 2013 Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
23743200 2013 DJ-1 cooperates with PYCR1 in cell protection against oxidative stress.
23531708 2013 Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23024808 2012 Functional specialization in proline biosynthesis of melanoma.
22052856 2011 Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.
21567914 2011 A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.
21487760 2011 Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.
21269460 2011 Initial characterization of the human central proteome.
21204221 2011 The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19648921 2009 Mutations in PYCR1 cause cutis laxa with progeroid features.
19576563 2009 Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16730026 2006 Crystal structure of human pyrroline-5-carboxylate reductase.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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.
8880459 1996 Pyrroline-5-carboxylate reductase in lactating bovine mammary glands.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
6894153 1981 Pyrroline-5-carboxylate reductase in human erythrocytes.
6253048 1980 Enzyme activities in human fetal and neoplastic tissues.
6201483 1984 The effect of pyrroline-5-carboxylic acid on nucleotide metabolism in erythrocytes from normal and glucose-6-phosphate dehydrogenase-deficient subjects.
2722838 1989 Purified human erythrocyte pyrroline-5-carboxylate reductase. Preferential oxidation of NADPH.
1730675 1992 Cloning human pyrroline-5-carboxylate reductase cDNA by complementation in Saccharomyces cerevisiae.
212173 1978 Human colon tumors: enzymic and histological characteristics.