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FLASH GENE
Symbol PDIA6 contributors: mct - updated : 24-05-2019
HGNC name protein disulfide isomerase-associated 6
HGNC id 30168
Location 2p25.1      Physical location : 10.923.518 - 10.952.960
Synonym name
  • thioredoxin domain containing 7 (protein disulfide isomerase)
  • protein disulfide isomerase-related protein
    • Synonym symbol(s) P5, TXNDC7, ERP5
    EC.number 5.3.4.1
    DNA
    TYPE functioning gene
    STRUCTURE 54.59 kb     13 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 2722 - 488 - 2019 30958660
    14 - 2552 - 445 - 2019 30958660
    15 - 2700 - 492 - 2019 30958660
    13 - 2349 - 440 - 2019 30958660
    14 - 2527 - 437 - 2019 30958660
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeye    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY protein disulfide isomerase family
    CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    text
  • localizes not only in the ER but also in mitochondria, although it remains unclear so far about its physiological significance(s) of its dual localization
    • basic FUNCTION
  • having substrate specificity with respect to chaperone activity
  • mitochondrial PDIA6 may upregulate tricarboxylic acid cycle and possibly, other intramitochondrial metabolism
  • surface expression of PDIA6 was shown to be dynamically regulated during sperm capacitation and, like that of previously characterized HSPA2-interacting proteins, this surface expression proved vulnerable to oxidative stress
  • PDIA6 regulation of ADAM17 shedding activity and EGFR-mediated migration and invasion of glioblastoma cells
  • PDIA6, COA1 have already been implicated in cancer progression
  • may serve an important role in cancer cell growth
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • cooperation between HSPA5 and PDIA6, demonstrating that individual PDI family members recognise specific substrate proteins
  • may act as a key reductase and target misfolded proinsulin to the ER-degradation pathway
  • HSPA5 protects ADAM17 against PDIAA6 catalyzed inactivation
  • PDIA6 interacted with MAP4K1 and inhibited its phosphorylation, ultimately inhibiting the JNK/JUN signaling pathway
  • 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)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    of PDIA6 significantly decreased the volume of giant cell tumors of bone (GCTB)
    tumoral     --over  
    in bladder cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker may serve as a biomarker and therapeutic target for non-small cell lung cancer (NSCLC)patients
  • alterations in PDIA3/PDIA6 expression levels may be involved in the breast carcinogenic process and should be further investigated as a marker of aggressiveness
    • Therapy target
    SystemTypeDisorderPubmed
    cancerlung 
    PDIA6 may serve as a therapeutic target for Non-small cell lung cancer (NSCLC) patients
    cancerbrain 
    may be considered an attractive and potent target for the treatment of glioblastoma
    cancerurinary 
    could be targeted for the treatment of bladder cancer
    ANIMAL & CELL MODELS