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FLASH GENE
Symbol PADI6 contributors: mct - updated : 23-01-2013
HGNC name peptidyl arginine deiminase, type VI
HGNC id 20449
Corresponding disease
FIEEA female infertility with early embryonic arrest
Location 1p36.13      Physical location : 17.698.740 - 17.728.195
Synonym name
  • protein-arginine deiminase type-6
  • EC.number 3.5.3.15
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 29.45 kb     16 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 2346 - 694 - 2004 15625577
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemovary  predominantly Homo sapiens
     female systemuterus  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningepidermis specific
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    Reproductivegerm cell Homo sapiens
    Reproductiveoocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion weakly expressed in sperm
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Padi6
    Homologene
    FAMILY
  • protein arginine deiminase family
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,granule
    intracellular,nucleus
    basic FUNCTION
  • catalyzing the deimination of arginine residues of proteins, post-translational modification of protein through the conversion of arginine to citrulline in the presence of calcium ions
  • may be involved in cytoskeletal reorganization in the egg and early embryo
  • oocyte-restricted PADI6 is essential for formation of a novel oocyte-restricted fibrous structure, the cytoplasmic lattices (CPLs)
  • PADI6/CPL superstructure plays a key role in regulating MT-mediated organelle positioning and movement
  • might play a unique evolutionary and essential role in early embryonic development in advanced vertebrate species
  • protein participating in the subcortical maternal complex (SCMC), which is essential for embryonic progression past the 2-cell stage
  • CELLULAR PROCESS protein
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • Ca2+
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FIEEA
    Susceptibility to cutaneous basal cell carcinoma
    Variant & Polymorphism SNP increasing the risk of cutaneous basal cell carcinoma
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • inactivation of the Pad6 gene in mice leads to female infertility whereas male fertility is not affected
  • Padi6 knockout mice are infertile when developmental arrest occurs at the 2-cell stage