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FLASH GENE
Symbol CILP contributors: mct - updated : 14-11-2012
HGNC name cartilage intermediate layer protein, nucleotide pyrophosphohydrolase
HGNC id 1980
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal region containing thirty cysteines, shown to bind to and inhibit TGFB1
  • four N-glycosylation sites and a thrombospondin-like repeat
  • a furin proteinase cleavage sequence
  • C region NPTTHase homolog with ten cysteines and two N-glycosylation sites
    • isoforms Precursor precursor for 2 different proteins, namely CILP and a homolog of NTPPHase.
    HOMOLOGY
    intraspecies homolog to CILP2
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • regulating TGF-beta signaling
  • large secreted glycoprotein that is thought to play a role in cartilage scaffolding
  • CILP and CILP2 may be important in cartilage structure and disease
  • CILP and CILP2 can have additional roles in noncartilaginous tissue ECM structure and function
  • ECM protein that may be components of such permanent cartilages, rather than the transient growth plate cartilage
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with TGF-beta1 (may form a functional feedback loop that controls chondrocyte metabolism)
  • disc degeneration, age, and BMP2 are regulators of the CILP gene
    • cell & other
    REGULATION
    induced by BMP2 inducing CILP expression by activating the SMAD1 signal pathway
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in old patiets and in patients with early stage osteoarthritis
    Susceptibility
  • to lumbar disc disease (minor role)
  • to musculoskeletal disorders including osteoarthritis
    • Variant & Polymorphism SNP
  • 1184T>C increasing the risk of lumbar disc disease
  • association of SNPs with musculoskeletal disorders including osteoarthritis
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS