Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
    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