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FLASH GENE
Symbol P3H4 contributors: mct - updated : 02-01-2019
HGNC name prolyl 3-hydroxylase family member 4
HGNC id 16946
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • potential glycosylation sites
  • at least one possible phosphorylation site
  • an acidic region in the C-terminal domain of the protein
  • HOMOLOGY
    Homologene
    FAMILY
  • CRTAP/No55 family
  • Leprecan protein family
  • CATEGORY antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus,nucleolus
    text on the synaptonemal complex between the pairing faces of the parallel aligned cores of homologous chromosomes in spermatocytes
    basic FUNCTION
  • protein of the interphase nucleolus
  • is expressed and functional during skeletal development because loss of P3H4 results in a progressive osteopenia that affects both trabecular and cortical bone
  • like its related family member CRTAP, is an important modulator of bone homeostasis, acting as a negative regulator of osteoclastogenesis
  • P3H1 preferentially 3-hydroxylates proline at a single site in collagen type I chains, whereas P3H2 is responsible for 3-hydroxylating multiple proline sites in collagen types I, II, IV, and V
  • P3H4 is significantly involved in several types of human cancer
  • tumour-associated autoantigen in patients with prostate cancer
  • 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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in bladder cancer compared with the adjacent normal tissue
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerurinary 
    may serve as a promising tumor-promoting gene in bladder cancer
    ANIMAL & CELL MODELS
  • Sc65-null mice provide evidence for a novel endoplasmic reticulum complex regulating collagen lysyl hydroxylation
  • P3h3-null and P3h4-null mice phenocopy the collagen lysine under-hydroxylation and cross-linking abnormality of Ehlers-Danlos Syndrome Type VIA