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FLASH GENE
Symbol ERP44 contributors: mct/ - updated : 11-05-2016
HGNC name endoplasmic reticulum protein 44
HGNC id 18311
Location 9q31.1      Physical location : 102.741.464 - 102.861.330
Synonym name
  • endoplasmic reticulum resident protein 44 kDa
  • thioredoxin domain containing 4 (endoplasmic reticulum)
  • protein disulfide isomerase family A, member 10
  • ER protein 44
    • Synonym symbol(s) KIAA0573, TXNDC4, PDIA10
    DNA
    TYPE like-sequence
    STRUCTURE 119.87 kb     12 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 4862 46.8 406 - 2003 14517240
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
    Endocrineneuroendocrinepituitary  highly
     parathyroid   highly
    Nervousbrain    
    Reproductivefemale systembreast   
     female systemplacenta  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three thioredoxin domains-a, b and b'-are arranged in a clover-like structure
  • conserved histidine residues in the C-terminal tail regulate ERP44
    • HOMOLOGY
    interspecies homolog to murine Txndc4
    homolog to rattus LOC298066
    Homologene
    FAMILY
  • thioredoxin family (TRX)
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • soluble protein of the ER lumen
  • is an ER lumenal chaperone protein that favors the maturation of disulfide-linked oligomeric proteins
    • basic FUNCTION
  • soluble protein of the thioredoxin family (TRX) endowed with an ER-localization signal and implicated also in ER calcium homeostasis
  • may be involved in electron transport, protein folding, response to unfolded protein, glycoprotein metabolism, secretory pathway
  • may be involved in the control of oxidative protein folding
  • play a role of the ERp44 C-tail in regulating substrate binding and release during protein quality control in the early secretory apparatus
  • ERP44 favors maturation of disulfide-linked oligomeric proteins
  • ERP44 together with ERO1A plays an important role in disulfide formation of SLC6A4, which may be a prerequisite step for the assembly of SLC6A4 molecules in oligomeric form
  • pH-regulated chaperone of the secretory pathway
  • endogenous ERP44 is O-glycosylated and secreted by human primary endometrial cells, suggesting possible pathophysiological roles of these processes
  • plays a critical role in embryonic heart development and is crucial in regulating cardiac cell Ca(2+) signaling, ER stress, ROS-induced oxidative stress, and activation of the intrinsic mitochondrial apoptosis pathway
  • endoplasmic reticulum (ER) chaperone ERP44 retains adiponectin in the early secretory compartment and tightly controls the oxidative state of Cys(39) and the oligomerization of adiponectin
    • CELLULAR PROCESS protein, post translation, folding
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interactions with PDIA2 and LMAN1 provide a novel, dynamic control of SUMF1 trafficking and enzymatic activity
  • PPARG is an essential regulatory factor for the transcriptional activity of ERP44, which in turn controls the secretion of adiponectin
  • potential ability of ERP44 to inhibit ERO1A activity may suggest its physiological role in ER redox and protein homeostasis
  • involvement of ERP44 in maturation of SLC6A4
  • plays a critical role in the release of proteins from the ER via binding to ERO1A
  • PDIA2 binds preferentially ERO1A, whereas ERP44 equally retains ERO1A and PRDX4
  • AGT is regulated by ERP44, a factor involved in disulfide bond formation in the ER
  • ERP44 controls the release of ERAP1 in a redox-dependent manner to control blood pressure
    • cell & other
    REGULATION
    induced by ER stress
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion of ERp44 in mouse and zebrafish caused significant embryonic lethality, abnormal heart development, altered Ca(2+) dynamics, reactive oxygen species generation, activated ER stress gene profiles, and apoptotic cell death