Property Summary

NCBI Gene PubMed Count 24
Grant Count 19
R01 Count 5
Funding $1,419,172.69
PubMed Score 327.26
PubTator Score 189.89

Knowledge Summary


No data available


  Differential Expression (13)

Disease log2 FC p
psoriasis 1.500 0.001
osteosarcoma 1.813 0.001
medulloblastoma, large-cell 1.800 0.000
non-small cell lung cancer 1.819 0.000
lung cancer 1.500 0.000
breast carcinoma 1.700 0.001
fibroadenoma 1.800 0.019
lung adenocarcinoma 2.800 0.000
primary Sjogren syndrome -1.100 0.020
Breast cancer 1.700 0.000
ductal carcinoma in situ 1.100 0.000
invasive ductal carcinoma 1.800 0.000
ovarian cancer 1.100 0.000

Gene RIF (11)

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.

AA Sequence

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.