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FLASH GENE
Symbol P3H1 contributors: mct/npt - updated : 02-01-2019
HGNC name prolyl 3-hydroxylase 1
HGNC id 19316
Corresponding disease
OIVIII osteogenesis imperfecta type VIII
Location 1p34.2      Physical location : -
Synonym name
  • membrane associated proteoglycan, leprecan
  • leucine proline-enriched proteoglycan (leprecan) 1
  • growth suppressor 1
  • leprecan 1
  • leprecan
  • Synonym symbol(s) GROS1, MGC117314, LEPRE1, OIVIII
    EC.number 1.14.11.7
    DNA
    TYPE functioning gene
    STRUCTURE 20.75 kb     15 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2696 84 736 - 2013 24043621
  • (GROS1-L)
  • having the 3-hydroxylation function (only form with this function) (Willaert 2009)
  • 15 splicing 2715 41 363 fibroblasts, placenta, ovary, testis 2013 24043621
  • (GROS1-S)
  • C terminus truncated
  • 14 - 3115 - 804 - 2013 24043621
  • variant 3 (LEPRE1c)
  • full retention of intron 14
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselaorta    Homo sapiensFetal
    Reproductivefemale systemovary  highly
     male systemtestis  highly
    Respiratoryrespiratory tractlarynx  highly
    Skeletonaxial skeletonvertebral columnvertebrae   Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Connectivecartilagefibrocartilage   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
     chondrocyte
     fibroblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal domain contains four CXXXC sequence repeats
  • leucine proline rich
  • mono polymer heteromer , trimer
    HOMOLOGY
    interspecies homolog to murine Lepre1
    Homologene
    FAMILY
  • proteoglycan family
  • CRTAP/NO55 family
  • prolyl 3-hydroxylases family
  • Leprecan protein family
  • CATEGORY tumor suppressor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text basement membrane associated
    basic FUNCTION
  • growth suppressor
  • functioning as a collagen chaperone
  • having a crucial role for bone development and collagen helix formation (Cahral 2007)
  • tissue specific P3H1, P3H2, P3H3 gene expression in both fetal and adult tissues indicating a developmental role for prolyl 3-hydroxylase activity
  • P3H1 and CRTAP stabilize each other and absence of one results in degradation of the other
  • is responsible for converting proline to 3-hydroxyproline
  • responsible for posttranslational modifications of type I collagen
  • is the unique enzyme responsible for collagen 3-hydroxylation in skin and bone
  • 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
  • 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
  • P3H1 forms a hetero-trimeric complex with CRTAP and cyclophilin B (PPIB)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OIVIII
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    leads to decreased deposition of extracellular matrix by osteoblasts and increased incorporation of mineral into the matrix
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Prolyl 3-hydroxylase 1 null mice display abnormalities in fibrillar collagen-rich tissues such as tendons, skin, and bones
  • P3h1 deficient mice had low trabecular bone volume and low mineral apposition rate, but normal osteoid maturation time and normal osteoblast and osteoclast surfaces