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FLASH GENE
Symbol PYCR1 contributors: mct/npt - updated : 31-01-2015
HGNC name pyrroline-5-carboxylate reductase 1
HGNC id 9721
Corresponding disease
ARCL2B cutis laxa, type 2 B
ARCL3B cutis laxa, autosomal recessive, type IIIB
Location 17q25.3      Physical location : 79.890.268 - 79.894.968
Synonym name
  • P5C reductase
  • proliferation-inducing protein 45
  • Synonym symbol(s) P5CR, P5C, PYCR, PP222, PIG45
    EC.number 1.5.1.2
    DNA
    TYPE functioning gene
    STRUCTURE 4.94 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    OCSP 17q25.3 oculospanin PDE6G 17q21.1 phosphodiesterase 6G, cGMP-specific, rod, gamma LOC339229 17q25.3 hypothetical protein LOC339229 MGC16597 17q25.3 similar to RIKEN cDNA 3110023B02 LOC339231 17q25.3 hypothetical protein LOC339231 HGS 17q25 hepatocyte growth factor-regulated tyrosine kinase substrate MRPL12 17q25 mitochondrial ribosomal protein L12 SLC25A10 17q25.3 solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 LOC388432 17 similar to dysferlin-interacting protein 1 P4HB 17q25.2 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55) ARHGDIA 17q25.3 Rho GDP dissociation inhibitor (GDI) alpha THOC4 17q25.3 THO complex 4 ANAPC11 17q25.3 APC11 anaphase promoting complex subunit 11 homolog (yeast) NPB 17q25.3 preproneuropeptide B LOC388433 17 LOC388433 PCYT2 17q25.3 phosphate cytidylyltransferase 2, ethanolamine SIRT7 17q25 sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae) MGC13090 17q25.3 hypothetical protein MGC13090 MAFG 17q25 v-maf musculoaponeurotic fibrosarcoma oncogene homolog G (avian) LOC92659 17q25.3 hypothetical protein BC009233 PYCR1 17q25.3 pyrroline-5-carboxylate reductase 1 LOC255275 17q25.3 similar to myeloid-associated differentiation marker LOC147111 17q25.3 hypothetical protein LOC147111 ASPSCR1 17q25 alveolar soft part sarcoma chromosome region, candidate 1 STRA13 17q25.3 stimulated by retinoic acid 13 MGC20806 17q25.3 hypothetical protein MGC20806 RAC3 10q25.3 ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) DCXR 17q25.3 dicarbonyl/L-xylulose reductase GPS1 17q25.3 G protein pathway suppressor 1 PP3111 17q25.3 PP3111 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 2059 - 319 - 2006 16730026
    8 - 1768 - 316 - 2006 16730026
    7 - 1811 - 288 - 2006 16730026
    8 - 1904 - 319 - 2006 16730026
    8 - 1897 - 345 - 2006 16730026
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • A NAD-NADP binding domain
  • HOMOLOGY
    Homologene
    FAMILY
  • pyrroline-5-carboxylate reductase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    text
  • localize to mitochondria and primarily act in the conversion of glutamate to proline
  • basic FUNCTION
  • catalyzing the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline
  • catalyzes the reduction of delta(1)-pyrroline-5-carboxylate (P5C) to proline using NAD(P)H as the cofactor (Meng 2006)
  • implicated in oxidation of the anti-tumor drug thioproline (Meng 2006)
  • may be playing a physiologic role in the generation of NADP(+) in some cell types
  • PYCR1 and PYCR2, which are localized in the mitochondria, are primarily involved in conversion of glutamate to proline (pMID: 23024808)
  • PYCR1 and PYCR2 could play overlapping, yet non-redundant roles in mitochondrial physiology
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PARK7 directly bound to PYCR1 (both colocalized in mitochondria, and were suggested to be involved in regulation of mitochondrial membrane potential, but differently)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARCL2B , ARCL3B
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in gastric cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS