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FLASH GENE
Symbol PYROXD1 contributors: mct - updated : 30-11-2016
HGNC name pyridine nucleotide-disulphide oxidoreductase domain 1
HGNC id 26162
Corresponding disease
PYROXD1D PYROXD1 deficiency
Location 12p12.1      Physical location : 21.590.537 - 21.624.180
EC.number 1.8.1.-
DNA
TYPE functioning gene
STRUCTURE 33.65 kb     12 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 4135 - 500 - 2004 15252450
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal highly Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal pyridine nucleotide-disulphide oxidoreductase domain
  • a C-terminal NADH-dependent nitrite reductase domain
  • conjugated FlavoP
    HOMOLOGY
    interspecies ortholog to zebrafish ryroxd1
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text
  • localizes to the nucleus and to striated sarcomeric compartments
  • basic FUNCTION
  • is a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR)
  • catalyze pyridine-nucleotide-dependent (NAD/NADH) reduction of thiol residues in other proteins
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PYROXD1D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS