PYCR1

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

PYCR1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2GER, 2GR9, 2GRA, 2IZZ
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
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q25.3 Start 81,932,384 bp[1] End 81,942,412 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 E2 Start 120,635,712 bp[2] End 120,643,769 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium body of pancreas parotid gland ventricular zone mucosa of transverse colon pancreatic ductal cell embryo ganglionic eminence tibia minor salivary glands Top expressed in parotid gland lacrimal gland clavicle calvaria molar seminal vesicula body of femur internal carotid artery external carotid artery fossa More reference expression data BioGPS More reference expression data
Gene ontology Molecular function oxidoreductase activity protein binding pyrroline-5-carboxylate reductase activity identical protein binding Cellular component mitochondrial matrix mitochondrion Biological process regulation of mitochondrial membrane potential cellular response to oxidative stress negative regulation of hydrogen peroxide-induced cell death cellular amino acid biosynthetic process L-proline biosynthetic process proline biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5831 209027 Ensembl ENSG00000183010 ENSMUSG00000025140 UniProt P32322 Q922W5 RefSeq (mRNA) NM_001282279 NM_001282280 NM_001282281 NM_006907 NM_153824 NM_001330523 NM_144795 NM_001348222 RefSeq (protein) NP_001269208 NP_001269209 NP_001269210 NP_001317452 NP_008838 NP_722546 NP_001335151 NP_001366014 NP_001366015 NP_001366016 NP_001366017 NP_001366018 Location (UCSC) Chr 17: 81.93 – 81.94 Mb Chr 11: 120.64 – 120.64 Mb PubMed search [3] [4]
Wikidata
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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]