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FLASH GENE
Symbol P3H3 contributors: mct - updated : 02-01-2019
HGNC name prolyl 3-hydroxylase family member 3
HGNC id 19318
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a PKHD (prolyl/lysyl hydroxylase) domain
  • four TPR repeats
    • HOMOLOGY
    Homologene
    FAMILY
  • CRTAP/ NO55 family, P3H family
  • Leprecan protein family
  • prolyl 3-hydroxylases family
    • CATEGORY receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION having prolyl 3-hydroxylase activity catalyzing the posttranslational formation of 3-hydroxyproline
    in -Xaa-Pro-Gly- sequences in collagens, especially types IV and V
  • tissue specific P3H1, P3H2, P3H3 gene expression in both fetal and adult tissues indicating a developmental role for prolyl 3-hydroxylase activity
  • is a novel tumor suppressor and its protein expression is inversely related to lymph node metastasis and tumor differentiation in lung 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 cofactor,
    iron and ascorbate
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in breast cancer and lymphoma due to DNA methylation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • P3h3-null and P3h4-null mice phenocopy the collagen lysine under-hydroxylation and cross-linking abnormality of Ehlers-Danlos Syndrome Type VIA