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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
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