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FLASH GENE
Symbol ERP29 contributors: mct - updated : 24-08-2011
HGNC name endoplasmic reticulum protein 29
HGNC id 13799
Location 12q24.13      Physical location : 112.451.151 - 112.461.024
Synonym name
  • endoplasmic reticulum lumenal protein/reticuloplasmin
  • chromosome 12 open reading frame 8
  • endoplasmic reticulum protein 29
    • Synonym symbol(s) ERP28, ERp31, PDI-DB, C12orf8, PDIA9
    DNA
    TYPE functioning gene
    STRUCTURE 9.87 kb     3 Exon(s)
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    text structure interaction of the predicted GC and E box elements within the core promoter with Sp1/Sp3 and USF1/USF2 transcription factors
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1472 - 261 - 2011 20920593
    2 - 1333 - 53 - 2011 20920593
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Nervousbrain   highly Homo sapiens
     brainhindbraincerebellum   Homo sapiens
    Reproductivemale systemprostate   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    endocrinethyroid
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES globular Hydrophilic
    STRUCTURE
    motifs/domains
  • N terminal hydrophobic signal sequence, resembling the thioredoxin domain of protein disulfide isomerase, but lacking its redox-active function due to the absence of an active motif consisting of double cysteines
  • C terminal endoplasmic reticulum retention motif KEEL, but lacking the CXXC thioreduxin box motif
    • mono polymer dimer
    HOMOLOGY
    interspecies homolog to rattus Erp29
    Homologene
    FAMILY protein disulfide isomerase family
    CATEGORY chaperone/stress , enzyme , tumor suppressor , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • playing a role in the processing of secretory proteins within the endoplasmic reticulum
  • having a function in thyroid cells connected with folding and/or secretion of thyroglobulin
  • ERP29 function is critical for the folding/secretion of thyroglobulin (Tg), a major secretory product of thyroid cells
  • new role for ERP29 as a chaperone that helps stabilize monomeric GJA1 to enable oligomerization to occur in the Golgi apparatus
  • facilitates the transport of secretory proteins in the early secretory pathway
  • facilitates processing and transport of proteins in the early secretory pathway
  • biological role as a putative chaperone in the endoplasmic reticulum
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
  • dimerization of ERP29 is crucial for its protein unfolding function
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • regulates GJA1 trafficking and function
  • physical interaction with EIF2AK3 and moreover, overexpression of ERP29 enhanced endogenous levels of EIF2AK3 (ERP29 regulates response to doxorubicin by a EIF2AK3-mediated mechanism)
    • cell & other
    REGULATION
    Other not responsive to metabolic stress
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    significantly inhibits proliferation and suppresses tumorigenesis by modulating ER stress signaling and the mesenchymal-epithelial transition in breast cancer cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    in mice Erp29 may be one of the important factors involved in sperm fertilization by facilitating sperm-oocyte membrane fusion