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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
Location 15q22      Physical location : 65.488.336 - 65.503.840
Synonym symbol(s) CILP-1
DNA
TYPE anonymous DNA segment
STRUCTURE 15.50 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 4484 - 1184 - 2006 16413503
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly Homo sapiens
Digestiveliver    
Reproductivefemale systemovary  highly
Respiratoryrespiratory tracttrachea  highly
Skeletonaxial skeletonvertebral columnvertebraeintervertebral disc  Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivecartilagefibrocartilage   Homo sapiens
Muscularstriatumskeletal highly Homo sapiens
Muscularstriatumcardiac   Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
not specificchondrocyte Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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