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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
Location 17q21.2      Physical location : -
Genatlas name synaptonemal complex protein SC65
Synonym name
  • nucleolar autoantigen (55kD) similar to rat synaptonemal complex
  • protein
  • leprecan-like protein 4
  • Synonym symbol(s) NOL55, NO55, SC65, NOL55, LEPREL4
    DNA
    TYPE functioning gene
    STRUCTURE 10.76 kb     8 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2619 - 437 - 2014 23959653
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine   highly
    Reproductivefemale systembreastmammary gland highly
     female systemovary    Homo sapiens
     male systemtestis    Homo sapiens
    Skin/Tegumentskin   highly Homo sapiens
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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