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FLASH GENE
Symbol CRTAP contributors: mct/npt - updated : 02-01-2019
HGNC name cartilage associated protein
HGNC id 2379
Corresponding disease
OIVII osteogenesis imperfecta, variant, moderate-to-severe form, type VII
Location 3p22.3      Physical location : 33.155.449 - 33.189.264
Synonym name leprecan-like 3
Synonym symbol(s) CASP, LEPREL3, OI7, P3H5
DNA
TYPE functioning gene
STRUCTURE 33.82 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 6668 - 401 - 1999 10429950
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen    
Cardiovascularheart    
Digestiveintestinesmall intestine  highly
Reproductivefemale systemovary  highly Homo sapiens
 male systemmale genital tractseminiferous tubule   Homo sapiens
Respiratoryrespiratory tractlarynx  highly
 respiratory tracttrachea  highly
Skeletonaxial skeleton    
Skin/Tegumentskin     Homo sapiens
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Connectivebone   
Connectivecartilage   
Epithelialbarrier/lining   
cells
SystemCellPubmedSpeciesStageRna symbol
 chondrocyte
Reproductivegerm cell Homo sapiens
Reproductiveinterstitial cell Homo sapiens
cell lineage
cell lines
fluid/secretion sperm
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal domain contains four CXXXC sequence repeats
  • an internal coiled coil motif required for cytohesin binding
  • a putative signal peptide of 26 amino acids
  • two potential N-glycosylation signals
  • mono polymer heteromer , trimer
    HOMOLOGY
    interspecies homolog to murine Crtap
    Homologene
    FAMILY
  • CRTAP/NO55 family
  • P3H family
  • Leprecan protein family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,vesicle
    text localized to perinuclear tubulovesicular structures that are in close proximity to the Golgi
    basic FUNCTION
  • scaffolding protein facilitating the function of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli
  • essential cofactor for the proper post-translational chain modification and collagen folding (Fratzl-Zelman 2009)
  • like its related family member CRTAP, P3H4 is an important modulator of bone homeostasis, acting as a negative regulator of osteoclastogenesis
  • P3H1 and CRTAP stabilize each other and absence of one results in degradation of the other
  • responsible for posttranslational modifications of type I collagen
  • is involved in the post-translational modification of fibrillar collagens
  • role for the Leprecans in the post-translational modification of collagens expressed in the stroma of the reproductive organs
  • expression of CRTAP in the seminiferous tubules and in mature sperm suggest a role in the testis germ cell lineage and sperm morphogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forms a complex with cyclophilin B and LEPRE1 (leprecan)
  • P3H1 forms a hetero-trimeric complex with CRTAP and cyclophilin B (PPIB)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with PSCD2, PSCD3
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OIVII
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • CrtapKO mice have a mild but significant increase in morphologically abnormal mature sperm