PYCR1 ( 17q25.31) pyrroline-5-carboxylate reductase 1

https://www.ncbi.nlm.nih.gov/gene/5831

Official Symbol

PYCR1provided by HGNC

Official Full Name

pyrroline-5-carboxylate reductase 1provided by HGNC

Also known as

P5C; P5CR; PRO3; PYCR; PIG45; PP222; ARCL2B; ARCL3B

Summary

This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Expression Broad expression in salivary gland (RPKM 19.9), stomach (RPKM 16.0) and 19 other tissues See more Orthologs mouse all

Preferred Names

pyrroline-5-carboxylate reductase 1, mitochondrial

Names

P5C reductase 1

proliferation-inducing protein 45

 https://www.ncbi.nlm.nih.gov/protein/NP_001269208.1

 

ORIGIN      
        1 msvgfigagq lafalakgft aagvlaahki masspdmdla tvsalrkmgv kltphnketv
       61 qhsdvlflav kphiipfild eigadiedrh ivvscaagvt issiekklsa frpaprvirc
      121 mtntpvvvre gatvyatgth aqvedgrlme qllssvgfct eveedlidav tglsgsgpay
      181 gaakmllhse qhpgqlkdnv sspggatiha lhvlesggfr sllinaveas cirtrelqsm
      241 adqeqvspaa ikktildkvk ldspagtals psghtkllpr slapagkd
//

Conserved Domains (1) summary

cl25964
Location:1 → 237

P5CR_dimer; Pyrroline-5-carboxylate reductase dimerisation

Related articles in PubMed

1. Human mitochondrial pyrroline-5-carboxylate reductase 1 promotes invasiveness and impacts survival in breast cancers. Ding J, et al. Carcinogenesis, 2017 May 1. PMID 28379297
2. Resolving the cofactor-binding site in the proline biosynthetic enzyme human pyrroline-5-carboxylate reductase 1. Christensen EM, et al. J Biol Chem, 2017 Apr 28. PMID 28258219, Free PMC Article
3. Effect of R119G Mutation on Human P5CR1 Dynamic Property and Enzymatic Activity. Li L, et al. Biomed Res Int, 2017. PMID 28194412, Free PMC Article
4. Knockdown of PYCR1 inhibits cell proliferation and colony formation via cell cycle arrest and apoptosis in prostate cancer. Zeng T, et al. Med Oncol, 2017 Feb. PMID 28078560
5. In silico screening, molecular docking, and molecular dynamics studies of SNP-derived human P5CR mutants. Sang P, et al. J Biomol Struct Dyn, 2017 Aug. PMID 27677826

See all (58) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

1. PYCR1 is negatively regulated by miR-488 and then promotes the occurrence and development of non-small-cell lung cancer and activates p38 MAPK pathway.
2. we firmly establish biallelic mutations in POLR3A as the genetic cause of a recognizable, neonatal, Wiedemann-Rautenstrauch-like progeroid syndrome. Thus, we suggest that POLR3A mutations are causal for a portion of under-diagnosed early-onset segmental progeroid syndromes
3. Results indicate that single-nucleotide polymorphism (SNP)-derived mutations, R119G and G206W, enhance the rigidity of pyrroline-5-carboxylate reductase (P5CR) structure.
4. these findings revealed that the mRNA and protein PYCR1 levels were significantly related to the poor outcome in either ER-negative or ER-positive breast cancer. PYCR1 could serve as a prognostic biomarker, therapeutic target and predictive biomarker for breast cancers.
5. PYCR1 forms a concentration-dependent decamer in solution, consistent with the pentamer-of-dimers assembly seen crystallographically
6. Authors found that PYCR1 was highly expressed in prostate cancer tissues and then knocked down PYCR1 in PCa cell lines (DU145, PC-3 and LNCap) via lentivirus-mediated gene delivery and analyzed its biological function.
7. experimental results indicate the R119G mutation could be an involving pathomechanism for Autosomal recessive cutis laxa .
8. Silencing of both PYCR1 and PYCR2 completely abolished anti-oxidation activity of RRM2B, demonstrating a functional collaboration of these metabolic enzymes in response to oxidative stress.
9. confirming that indeed PYCR1 generates L-pipecolic acid from Delta(1)-piperideine-6-carboxylate
10. our current study presents the second largest group of patients with PYCR1-related ARCL and expands the clinical and genetic spectrum.

Submit: New GeneRIF Correction See all GeneRIFs (19)