PYCR2(1q42.12)

https://www.ncbi.nlm.nih.gov/gene/29920

Official Symbol

PYCR2provided by HGNC

Official Full Name

pyrroline-5-carboxylate reductase 2provided by HGNC

Also known as

HLD10; P5CR2

Summary

This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]

Expression

Ubiquitous expression in adrenal (RPKM 27.1), spleen (RPKM 24.2) and 25 other tissues See more

Orthologs

 

Preferred Names

pyrroline-5-carboxylate reductase 2

Names

P5C reductase 2

pyrroline 5-carboxylate reductase isoform

pyrroline-5-carboxylate reductase family member 2

 

FEATURES             Location/Qualifiers
     source          1..246
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.12"
     Protein         1..246
                     /product="pyrroline-5-carboxylate reductase 2 isoform 2"
                     /EC_number="1.5.1.2"
                     /note="pyrroline 5-carboxylate reductase isoform; P5C
                     reductase 2; pyrroline-5-carboxylate reductase family
                     member 2"
                     /calculated_mol_wt=25737
     Region          1..194
                     /region_name="P5CR_dimer"
                     /note="Pyrroline-5-carboxylate reductase dimerisation;
                     cl25964"
                     /db_xref="CDD:330785"
     CDS             1..246
                     /gene="PYCR2"
                     /gene_synonym="HLD10; P5CR2"
                     /coded_by="NM_001271681.1:231..971"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS73039.1"
                     /db_xref="GeneID:29920"
                     /db_xref="HGNC:HGNC:30262"
                     /db_xref="MIM:616406"
ORIGIN      
        1 msvgfigagq layalargft aagilsahki iasspemnlp tvsalrkmgv nltrsnketv
       61 khsdvlflav kphiipfild eigadvqarh ivvscaagvt issvekafma ldaladggvk
      121 mglprrlaiq lgaqallgaa kmlldseqhp cqlkdnvcsp ggatihalhf lesggfrsll
      181 inaveascir trelqsmadq ekispaalkk tlldrvkles ptvstltpss pgklltrsla
      241 lggkkd
//

 

Related articles in PubMed

1. PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive. Zaki MS, et al. Ann Neurol, 2016 Jul. PMID 27130255, Free PMC Article
2. Downregulation of pyrroline-5-carboxylate reductase-2 induces the autophagy of melanoma cells via AMPK/mTOR pathway. Ou R, et al. Tumour Biol, 2016 May. PMID 26634742
3. Frequent amplification of ORAOV1 gene in esophageal squamous cell cancer promotes an aggressive phenotype via proline metabolism and ROS production. Togashi Y, et al. Oncotarget, 2014 May 30. PMID 24930674, Free PMC Article
4. Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. Nakayama T, et al. Am J Hum Genet, 2015 May 7. PMID 25865492, Free PMC Article
5. PYCR1 and PYCR2 Interact and Collaborate with RRM2B to Protect Cells from Overt Oxidative Stress. Kuo ML, et al. Sci Rep, 2016 Jan 6. PMID 26733354, Free PMC Article

See all (40) citations in PubMed

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

GeneRIFs: Gene References Into Functions

1. PYCR2-related syndrome represents a clinically recognizable condition in which PYCR2 mutations lead to protein dysfunction.
2. It was found that silence of PYCR2 resulted in the decrease of proliferative ability and activation of AMPK/mTOR-induced autophagy of A375 cells. PYCR2 silencing also activated AMPK/mTOR pathway in another melanoma cell line, CHL-1.
3. 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.
4. Hypomyelination and the absence of lax caused by previously reported mutations in the gene encoding PYCR2's isozyme, PYCR1, suggesting a unique and indispensable role for PYCR2 in the human CNS during development.