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FLASH GENE
Symbol P4HTM contributors: mct/npt - updated : 12-06-2013
HGNC name prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)
HGNC id 28858
Location 3p21.31      Physical location : 49.027.340 - 49.044.579
Genatlas name hypoxia-inducible factor prolyl 4-hydroxylase
Synonym name
  • proline 4-hydroxylase
  • P4H with transmembrane domain
  • Prolyl hydroxlase domain-containing 4
  • hypoxia inducible factor prolyl 4 hydroxylase
  • Synonym symbol(s) FLJ20262, P4H-TM, PH-4, EGLN4, HIFPH4, PH4, PHD4
    EC.number 1.14.11
    DNA
    TYPE functioning gene
    STRUCTURE 17.24 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2111 - 502 - Hirsila, Pekkala, Koivunen (2007)
  • PH-4 Ia
  • having major transcripts encoding inactive polypeptides, which suggest novel regulation by alternative splicing
  • - - 2820 - 423 - Hirsila, Pekkala
    having major transcripts encoding inactive polypeptides, which suggest novel regulation by alternative splicing
    - - 1930 - 499 - Pekkala
    9 - 2294 - 563 - Koivunen (2007)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivestomach   highly
    Endocrineneuroendocrinepituitary  highly
    Nervousnerve   highly
    Reproductivefemale systemuteruscervix highly
     female systemovary   
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an amino terminal EF-hand motif
  • a carboxy terminal catalytic domain
  • tetratricopeptide repeat domain, the peptide-substrate-binding domain
  • HOMOLOGY
    Homologene
    FAMILY
  • prolyl 4-hydroxylases family
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • playing a role in adaptation to hypoxia and may be related to cellular oxygen sensing
  • may be involved in the degradation of hypoxia-inducible transcription factors under normoxia
  • catalyze the formation of 4-hydroxyproline in -X-Pro-Gly-sequences and have an essential role in collagen synthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ADM up-regulated the mRNA and protein expressions of HIF1A- and HIF1-targeted genes, and ADM up-regulated the protein expressions of HIF1A through down-regulation of PH4TM mRNA expression and P4HTM activity
  • P4HTM overexpression in tumor cells stimulated the expression of TGFA, which was necessary and sufficient to promote angiogenic sprouting of endothelial cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS