Property Summary

NCBI Gene PubMed Count 24
PubMed Score 327.26
PubTator Score 189.89

Knowledge Summary

Patent

No data available

TINX Plot

Expression

  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

Synonym

Accession P32322 A6NFM2 B4DMU0 Q6FHI4 Q96DI6 Q9HBQ4 P5C reductase 1
Symbols P5C
P5CR
PRO3
PYCR
PIG45
PP222
ARCL2B
ARCL3B

Gene

PDB

2GER   2GR9   2GRA   2IZZ  

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA Inparanoid
Opossum EggNOG Inparanoid
Chicken OMA EggNOG
Anole lizard OMA EggNOG
Xenopus OMA EggNOG Inparanoid
C. elegans OMA EggNOG

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.
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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.
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