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FLASH GENE
Symbol PORCN contributors: mct - updated : 22-03-2017
HGNC name porcupine homolog (Drosophila)
HGNC id 17652
Corresponding disease
DHOF focal dermal hypoplasia
Location Xp11.23      Physical location : 48.367.370 - 48.379.202
Synonym name
  • porcupine
  • protein MG61
  • Synonym symbol(s) MG61, MGC29687, PORC, PPN,2410004O13Rik, DHOF, FODH
    EC.number 2.3.1.-
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 11.86 kb     14 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 1849 - 450 - 2002 12034504
    14 - 1867 - 456 - 2002 12034504
    13 - 1743 - 455 - 2002 12034504
    14 - 1761 - 461 - 2002 12034504
    13 - 2018 - 379 - 2002 12034504
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
     pharynx   highly
     salivary gland   highly
    Reproductivefemale systemuteruscervix highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • multiple transmembrane domains putatively serving as O-acyltransferases transmembrane domains
  • HOMOLOGY
    interspecies ortholog to Drosophila Porc
    Homologene
    FAMILY
  • membrane-bound acyltransferase family
  • porcupine subfamily
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • involved in the processing of Wnt (wingless and int homologue) proteins (regulator of Wnt signaling)
  • multitransmembrane ER proteins, which are evolutionarily well conserved and involved in processing the Wnt family
  • might regulate the expression of some cancer-related molecules including S100P in non-small cell lung carcinoma
  • importance of PORCN for WNT secretion and gastrulatio, suggesting that disruption of early development underlies the male lethality of human PORCN mutants
  • appears to moonlight in a novel signaling pathway that is rate-limiting for cancer cell growth and tumorigenesis independent of its enzymatic function in Wnt biosynthesis and secretion
  • membrane-bound O-acyltransferase that is required for post-translational modification of all Wnts to enable their transport, secretion, and activity
  • is a key non-redundant node for the regulation of global Wnt signaling because PORCN null cells are completely incapable of autocrine Wnt signaling
  • importance of palmitoylation for WNT1 activity and PORCN is an O-acyl transferase for WNT1
  • roles for PORCN in controlling synaptic transmission by regulating the level and composition of hippocampal AMPAR complexes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • WNT1 residues 214-234 are sufficient for PORCN-dependent palmitoylation of Ser224
  • PORCN and WLS compete for binding to WNT1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DHOF
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS