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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
Corresponding disease
OIL1 osteogenesis imperfecta-like disorder
Location 17q25.3      Physical location : 79.801.033 - 79.818.544
Synonym name
  • prolyl-4-hydroxylase, beta polypeptide, same as PDI, THBP
  • procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase)
  • beta polypeptide (protein disulfide isomerase thyroid hormone binding protein p55)
  • avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2-like
  • protein disulfide isomerase
  • glutathione-insulin transhydrogenase
  • thyroid hormone-binding protein p55
  • Synonym symbol(s) PHDB, PO4DB, PDI, ERBA2L, DSI, PDIA1, PROHB, GIT, p55, THBP1, PO4HB, P4Hbeta
    EC.number 1.14.11.2, 5.3.4.1
    DNA
    TYPE functioning gene
    STRUCTURE 17.51 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    FLJ22175 17q25.3 hypothetical protein FLJ22175 NPL4 17qter hypothetical protein FLJ22175 OCSP 17q25.3 oculospanin PDE6G 17q21.1 phosphodiesterase 6G, cGMP-specific, rod, gamma LOC339229 17q25.3 hypothetical protein LOC339229 MGC16597 17q25.3 similar to RIKEN cDNA 3110023B02 LOC339231 17q25.3 hypothetical protein LOC339231 HGS 17q25 hepatocyte growth factor-regulated tyrosine kinase substrate MRPL12 17q25 mitochondrial ribosomal protein L12 SLC25A10 17q25.3 solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 LOC388432 17 similar to dysferlin-interacting protein 1 P4HB 17q25.2 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55) ARHGDIA 17q25.3 Rho GDP dissociation inhibitor (GDI) alpha THOC4 17q25.3 THO complex 4 ANAPC11 17q25.3 APC11 anaphase promoting complex subunit 11 homolog (yeast) NPB 17q25.3 preproneuropeptide B LOC388433 17 LOC388433 PCYT2 17q25.3 phosphate cytidylyltransferase 2, ethanolamine SIRT7 17q25 sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae) MGC13090 17q25.3 hypothetical protein MGC13090 MAFG 17q25 v-maf musculoaponeurotic fibrosarcoma oncogene homolog G (avian) LOC92659 17q25.3 hypothetical protein BC009233 PYCR1 17q25.3 pyrroline-5-carboxylate reductase 1 LOC255275 17q25.3 similar to myeloid-associated differentiation marker LOC147111 17q25.3 hypothetical protein LOC147111
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2596 57 508 - 2004 15358778
    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