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FLASH GENE
Symbol P4HB contributors: mct/npt - updated : 23-03-2015
HGNC name procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide
HGNC id 8548
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen    
Digestiveesophagus   highly
 salivary gland   highly
 stomach   highly
Endocrineadrenal gland   highly
Respiratoryrespiratory tracttrachea  predominantly
Urinarykidney    
Visualeyeanterior segmentcornea  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Lymphoid    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four thioredoxin-like domains, two of which, like thioredoxin itself, have redox-active catalytic sites (Byrne 2009)
  • other functional domains
  • a C-terminal acidic tail containing the KDEL (Lys-Asp-Glu-Leu) ER-retention signal (Byrne 2009)
  • mono polymer heteromer , dimer
    HOMOLOGY
    intraspecies homolog to avian erythroblastic leukemia viral (v-erb-a) oncogene 2
    Homologene
    FAMILY
  • protein disulfide isomerase family
  • CATEGORY enzyme , protooncogene
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • catalyzing the rearrangement of -S-S- bonds in proteins
  • having ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, and ability to bind thyroid hormone
  • playing a role in both the influx and efflux of S-nitrosothiol-bound nitric oxide
  • catalyzes the oxidation reduction and isomerization of disulfide bonds
  • it is possible that P4HB is particularly important for the skeleton whereas other disulfide isomerases are more prominent in other tissues
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimerizing with P4HA, P4HA2
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • thyroid hormone binding
  • cell surface trafficking of P4HB, PDIA3, and PDIA6 is dependent on KDELR1, which travels in a dynamic manner to the cell surface
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OIL1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularlaterale amyotrophy sclerosis 
    may be a therapeutic target to prevent SOD1 aggregation, in ALS
    ANIMAL & CELL MODELS