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FLASH GENE
Symbol LOR contributors: mct - updated : 25-05-2011
HGNC name loricrin
HGNC id 6663
Corresponding disease
KHM1 keratoderma (hyperkeratosis), palmoplantar, mutilans,1
PSEK1 progressive symetric erythrokeratoderma 1
Location 1q21.3      Physical location : 153.232.178 - 153.234.598
Synonym symbol(s) CEP, LRC, LRN, MGC111513
DNA
TYPE functioning gene
STRUCTURE 2.42 kb     2 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   transcription factor
text structure
  • open reading frame in a single exon
  • AP1 site located in the proximal promoter region (position -55) essential for promoter activity
  • MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1229 25.63 312 - 1996 8618063
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningepidermis  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentcornified cell
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three long glycine-serine-cysteine rich sequence domains, forming glycine loops
  • lysine and glutamine rich domains, involved in isodipeptide cross links
    • HOMOLOGY
    Homologene
    FAMILY
  • SPRR family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • major keratinocyte cell envelope protein
  • Loricrin (LOR) and involucrin (IVL) are proteins important for skin barrier formation and integrity
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • major protein constituent of the cornified cell enveloppe in stratum corneum
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by Sp1, c-Jun, an unidentified regulator, and the co-activator p300/CREB-binding protein
    inhibited by Th2 cytokines that inhibit expression of LOR and IVL through a STAT-6 dependent mechanism
    repressed by Sp3, CREB-1/CREMalpha/ATF-1, Jun B, and an AP2-like protein (termed the keratinocyte-specific repressor-1 (KSR-1))
    ASSOCIATED DISORDERS
    corresponding disease(s) KHM1 , PSEK1
    Susceptibility
    Variant & Polymorphism
    Candidate gene for PSORS4
    Marker
    Therapy target
    ANIMAL & CELL MODELS