PYCR1

Last updated
PYCR1
Protein PYCR1 PDB 2ger.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases PYCR1 , ARCL2B, ARCL3B, P5C, P5CR, PIG45, PP222, PRO3, PYCR, pyrroline-5-carboxylate reductase 1
External IDs OMIM: 179035; MGI: 2384795; HomoloGene: 56002; GeneCards: PYCR1; OMA:PYCR1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_144795
NM_001348222

RefSeq (protein)
Location (UCSC) Chr 17: 81.93 – 81.94 Mb Chr 11: 120.64 – 120.64 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Pyrroline-5-carboxylate reductase 1, mitochondrial is an enzyme that in humans is encoded by the PYCR1 gene. [5] [6]

Contents

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. Alternate splicing results in two transcript variants encoding different isoforms. [6] As reported by Bruno Reversade and colleagues, PYCR1 deficiency in humans causes a progeroid disease known as De Barsy Syndrome mainly affecting connective tissues with dermis thinning and bone fragility. [7]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000183010 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025140 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Dougherty KM, Brandriss MC, Valle D (January 1992). "Cloning human pyrroline-5-carboxylate reductase cDNA by complementation in Saccharomyces cerevisiae". The Journal of Biological Chemistry. 267 (2): 871–5. doi: 10.1016/S0021-9258(18)48364-0 . PMID   1730675.
  6. 1 2 "Entrez Gene: PYCR1 pyrroline-5-carboxylate reductase 1".
  7. Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, et al. (September 2009). "Mutations in PYCR1 cause cutis laxa with progeroid features". Nature Genetics. 41 (9): 1016–21. doi:10.1038/ng.413. PMID   19648921. S2CID   10221927.

Further reading