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FLASH GENE
Symbol P4HA1 contributors: SGE/npt - updated : 01-03-2017
HGNC name prolyl 4-hydroxylase, alpha polypeptide I
HGNC id 8546
Location 10q22.1      Physical location : 74.766.981 - 74.856.732
Synonym name
  • procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I
  • prolyl-4-hydroxylase,alpha subunit
  • C-P4Halpha(I)
  • collagen prolyl 4-hydroxylase alpha(I)
    • Synonym symbol(s) P4HA
    EC.number 1.14.11.2
    DNA
    TYPE functioning gene
    STRUCTURE 89.75 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - COL13A1 - P4HA1 - qter
    Authors Horelli-Kuitunen (97)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2860 - 534 - Helaakoski 1989
  • isoform 1
    • 15 - 2860 - 534 - Helaakoski 1989
  • isoform 2
    • 16 - 2953 - 534 - Helaakoski 1989
  • isoform 2
    • 14 - 2806 - 516 - Helaakoski 1989
  • isoform 3
    		•
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Lymphoid/Immunethymus   highly
    Respiratoryrespiratory tractlarynx   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one Fe2OG dioxygenase domain
  • one TPR repeat
    • conjugated GlycoP
    mono polymer heteromer , dimer , tetramer
    HOMOLOGY
    interspecies homolog to murine P4ha1 (95.3pc)
    homolog to rattus P4ha1 (94.0pc)
    Homologene
    FAMILY
  • P4HA family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • catalyzing the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains
  • P4HA1 and P4HA2 are required for collagen deposition
  • P4HA1, P4HA2, and PLOD2 mediate remodeling of ECM composition, alignment, and mechanical properties in response to hypoxia
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the heterodimer (alpha 1) 2, beta 2, type I
  • procollagen-proline, 2-oxoglutarate 4-dioxygenase (prolyl-4-hydroxylase), alpha polypeptide
  • component of prolyl 4-hydroxylase composed of two identical alpha subunits and two beta subunits
    • INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
  • binding one Fe2+ ion per subunit
  • ascorbate
    • protein
  • HIF1A activates expression of genes encoding collagen prolyl (P4HA1 and P4HA2) and lysyl (PLOD2) hydroxylases
    • cell & other
    REGULATION
    inhibited by enzyme inhibited by poly (L-proline)
    Other HNRNPA2B1 modulates P4HA1 mRNA stability (Fahling 2006)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in atherosclerotic plaque
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS