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FLASH GENE
Symbol IFITM5 contributors: mct - updated : 17-03-2012
HGNC name interferon induced transmembrane protein 5
HGNC id
Corresponding disease
OI5 Osteogenesis imperfecta type 5
Location 11p15.5      Physical location : 298.202 - 299.526
Synonym name
  • bone-restricted interferon induced transmembrane protein-like protein
  • Synonym symbol(s) BRIL, Hrmp1, fragilis4
    DNA
    TYPE functioning gene
    STRUCTURE 1.32 kb     2 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 733 14.8 132 - 2008 18442316
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Skeleton      Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skeletonosteoblast Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text skeletal system
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two transmembrane domains
  • extracellular N-terminal and C-terminal sequences
  • secondary structure two helical transmembrane domains connected by an intracellular linker
    HOMOLOGY
    Homologene
    FAMILY IFITM family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • osteoblast protein, having a role in mineralization, possibly identifying a new regulatory pathway in bone formation
  • osteoblast-specific membrane protein whose expression peaks around the early mineralization stage during the osteoblast maturation process
  • is involved not only in bone formation, but also in immune system activity
  • its involvement in bone formation is widespread in mammals
  • its expression regulates the association of CD9 with the FKBP11CD81FPRP complex, and facilitates increased expression of interferon-induced genes
  • potentially contributes not only to bone formation, but also to immune system activity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component IFITM5 forms a complex with FKBP11-CD81-PTGFRN
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FKBP11 is the only protein it was found to interact with in osteoblasts, while IFITM5 interacts with several proteins in fibroblasts
  • directly associates with FK506 binding protein 11 (FKBP11) in osteoblasts (FKBP11 was associated with CD81, which interacts with prostaglandin F2 receptor negative regulator (FPRP) and CD9)
  • associates with CD81 through FKBP11
  • negatively regulates the association of CD9 with a FKBP11CD81PTGFRN complex
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OI5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice with a functional null mutation in the Ifitm5 gene have smaller bones