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PDIA3 Gene

protein-coding   GIFtS: 67
GCID: GC15P044038

Protein Disulfide Isomerase Family A, Member 3

(Previous names: glucose regulated protein, 58kDa, protein disulfide isomerase-associated...)
(Previous symbol: GRP58)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Protein Disulfide Isomerase Family A, Member 31 2     ERp612
GRP581 2 3 5     GRP572
Glucose Regulated Protein, 58kDa1 2     HEL-S-2692
Protein Disulfide Isomerase-Associated 31 2     HEL-S-93n2
Disulfide Isomerase ER-602 3     HsT170832
Endoplasmic Reticulum Resident Protein 572 3     P582
Endoplasmic Reticulum Resident Protein 602 3     PI-PLC2
58 KDa Glucose-Regulated Protein2 3     Endoplasmic Reticulum P582
58 KDa Microsomal Protein2 3     Epididymis Secretory Protein Li 2692
ERp572 3     Epididymis Secretory Sperm Binding Protein Li 93n2
ERp602 3     Phospholipase C-Alpha2
ER Protein 572 3     Protein Disulfide-Isomerase A32
ER Protein 602 3     ERP573
EC 5.3.4.13 8     ERP603
ER602     p583

External Ids:    HGNC: 46061   Entrez Gene: 29232   Ensembl: ENSG000001670047   OMIM: 6020465   UniProtKB: P301013   

Export aliases for PDIA3 gene to outside databases

Previous GC identifers: GC15P041826 GC15P020861


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PDIA3 Gene:
This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and
calnexin to modulate folding of newly synthesized glycoproteins. The protein was once thought to be a
phospholipase; however, it has been demonstrated that the protein actually has protein disulfide isomerase
activity. It is thought that complexes of lectins and this protein mediate protein folding by promoting formation
of disulfide bonds in their glycoprotein substrates. (provided by RefSeq, Jul 2008)

GeneCards Summary for PDIA3 Gene:
PDIA3 (protein disulfide isomerase family A, member 3) is a protein-coding gene. Diseases associated with PDIA3 include pancreatic ductal carcinoma, and von willebrand's disease. GO annotations related to this gene include electron carrier activity and protein disulfide oxidoreductase activity. An important paralog of this gene is PDIA4.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000015.10  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the PDIA3 gene promoter:
         AML1a   AP-1   ATF-2   E47   FOXL1   CREB   c-Myb   Hand1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PDIA3 promoter sequence
   Search Chromatin IP Primers for PDIA3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PDIA3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q15   Ensembl cytogenetic band:  15q15.3   HGNC cytogenetic band: 15q15

PDIA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDIA3 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P044038:  view genomic region     (about GC identifiers)

Start:
44,038,590 bp from pter      End:
44,065,477 bp from pter
Size:
26,888 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PDIA3_HUMAN, P30101 (See protein sequence)
Recommended Name: Protein disulfide-isomerase A3 precursor  
Size: 505 amino acids; 56782 Da
Subunit: Subunit of the TAP complex, also known as the peptide loading complex (PLC). Can form disulfide-linked
heterodimers with TAPBP. Interacts with ERP27 and CANX. Interacts with SERPINA2P/SERPINA2 and with the S and Z
variants of SERPINA1
Mass spectrometry: Mass=54265.22; Method=MALDI; Range=25-505; Source=PubMed:11840567;
Caution: Was originally thought to be a phosphatidylinositol 4,5-bisphosphate phosphodiesterase type I
(phospholipase C-alpha)
4 PDB 3D structures from and Proteopedia for PDIA3:
2ALB (3D)        2DMM (3D)        2H8L (3D)        3F8U (3D)    
Secondary accessions: Q13453 Q14255 Q8IYF8 Q9UMU7

Explore the universe of human proteins at neXtProt for PDIA3: NX_P30101

Explore proteomics data for PDIA3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys94, Lys104, Lys296, Lys305, Lys335, Lys362
  • Glycosylation2 at Thr102, Thr452, Ser456, Thr485
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PDIA3 (P30101) (see all 19)
     KSEPIPE  GFPTIYF  LVEFFAP  EYDDNGEGI 


    See PDIA3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005304.3  
    ENSEMBL proteins: 
     ENSP00000300289   ENSP00000391111   ENSP00000398005   ENSP00000389906   ENSP00000438260  
    Reactome Protein details: P30101

    PDIA3 Human Recombinant Protein Products:

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    Novus Biologicals PDIA3 Proteins
    Novus Biologicals PDIA3 Lysates
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    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for PDIA3
    Cloud-Clone Corp. Proteins for PDIA3

    PDIA3 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PDIA3
    R&D Systems Antibodies for PDIA3 (ERp57/PDIA3)
    Cell Signaling Technology (CST) Antibodies for PDIA3  (GRP58)
    OriGene Antibodies for PDIA3
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    Novus Biologicals PDIA3 Antibodies
    Abcam antibodies for PDIA3
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    ThermoFisher Antibody for PDIA3
    LSBio Antibodies in human, mouse, rat for PDIA3

    PDIA3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PDIA3
    Cloud-Clone Corp. CLIAs for PDIA3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PDI: Protein disulfide isomerases

    Selected InterPro protein domains (see all 6):
     IPR005746 Thioredoxin
     IPR012336 Thioredoxin-like_fold
     IPR005788 Disulphide_isomerase
     IPR013766 Thioredoxin_domain
     IPR017937 Thioredoxin_CS

    Graphical View of Domain Structure for InterPro Entry P30101

    ProtoNet protein and cluster: P30101

    1 Blocks protein domain: IPB006662 Thioredoxin type domain

    UniProtKB/Swiss-Prot: PDIA3_HUMAN, P30101
    Similarity: Belongs to the protein disulfide isomerase family
    Similarity: Contains 2 thioredoxin domains


    PDIA3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PDIA3_HUMAN, P30101
    Catalytic activity: Catalyzes the rearrangement of -S-S- bonds in proteins

         Enzyme Number (IUBMB): EC 5.3.4.11 2

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003756protein disulfide isomerase activity IBA--
    GO:0004197cysteine-type endopeptidase activity TAS9399589
    GO:0004629phospholipase C activity TAS3398923
    GO:0005515protein binding IPI15896298
    GO:0015035protein disulfide oxidoreductase activity IEA--
         
    PDIA3 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Pdia3):
     cellular  embryogenesis  growth/size/body  hematopoietic system  immune system 
     mortality/aging  skeleton 

    PDIA3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pdia3tm1.1Gjh for PDIA3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PDIA3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PDIA3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PDIA3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PDIA3

    miRNA
    Products:
        
    miRTarBase miRNAs that target PDIA3:
    hsa-mir-1 (MIRT023749), hsa-mir-7-5p (MIRT025802)

    Block miRNA regulation of human, mouse, rat PDIA3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PDIA3 (see all 23):
    hsa-miR-582-3p hsa-miR-148b hsa-miR-520d-5p hsa-miR-10b* hsa-miR-501-5p hsa-miR-3613-3p hsa-miR-1208 hsa-miR-520g
    SwitchGear 3'UTR luciferase reporter plasmidPDIA3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PDIA3
    Predesigned siRNA for gene silencing in human, mouse, rat PDIA3

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for PDIA3 (see all 7)
    OriGene ORF clones in mouse, rat for PDIA3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PDIA3 (NM_005313)
    Sino Biological Human cDNA Clone for PDIA3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PDIA3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDIA3

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDIA3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PDIA3_HUMAN, P30101: Endoplasmic reticulum. Endoplasmic reticulum lumen (By similarity). Melanosome.
    Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    cytoskeleton2
    golgi apparatus2
    cytosol1
    extracellular1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum TAS16130169
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0009986cell surface IDA19995400
    GO:0042470melanosome IEA--
    GO:0070062extracellular vesicular exosome IDA19199708

    PDIA3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PDIA3 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1CDK-mediated phosphorylation and removal of Cdc6
    ER-Phagosome pathway0.80
    Immune response Antigen presentation by MHC class I0.68
    Antigen processing-Cross presentation0.80
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Calnexin/calreticulin cycle0.00
    Post-translational protein modification0.43
    N-glycan trimming in the ER and Calnexin/Calreticulin cycle0.00
    Metabolism of proteins0.30
    3Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    4Allograft rejection
    Antigen processing and presentation0.36
    5ER to Golgi Transport
    Antigen Presentation- Folding, assembly and peptide loading of class I MHC0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for PDIA3
        Translational Control

    1 GeneGo (Thomson Reuters) Pathway for PDIA3
        Immune response Antigen presentation by MHC class I


    3 Reactome Pathways for PDIA3
        Antigen Presentation: Folding, assembly and peptide loading of class I MHC
    Calnexin/calreticulin cycle
    ER-Phagosome pathway


    2 Kegg Pathways  (Kegg details for PDIA3):
        Protein processing in endoplasmic reticulum
    Antigen processing and presentation


    PDIA3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PDIA3: 
              Unfolded Protein Response in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PDIA3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PDIA3 (P301011, 2, 3 ENSP000003002894) via UniProtKB, MINT, STRING, and/or I2D (see all 183)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRDX4Q131621, 2, 3, ENSP000003686464EBI-979862,EBI-2211957 MINT-8090942 MINT-8090965 I2D: score=1 STRING: ENSP00000368646
    ENSG00000206297Q035181, 3EBI-979862,EBI-747259 I2D: score=4 
    ENSG00000224212Q035181, 3EBI-979862,EBI-747259 I2D: score=4 
    ENSG00000226173Q035181, 3EBI-979862,EBI-747259 I2D: score=4 
    ENSG00000227816Q035181, 3EBI-979862,EBI-747259 I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0002479antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS--
    GO:0006457protein folding TAS--
    GO:0006508proteolysis TAS9399589
    GO:0006606protein import into nucleus TAS7487104

    PDIA3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PDIA3

    Selected Novoseek inferred chemical compound relationships for PDIA3 gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    castanospermine 64.6 2 14978212 (2)
    cysteine 27.3 2 17459881 (1), 19687800 (1)
    polysaccharide 27 3 9497314 (1), 9637923 (1)
    carnitine 18.1 6 7998951 (2), 7487104 (2)
    inositol 1.18 1 7651180 (1)
    atp 0 2 15892163 (1), 12783457 (1)
    inositol 1,4,5 trisphosphate 0 1 11752607 (1)
    glucose 0 7 8232244 (1), 12239218 (1), 12923326 (1), 14978212 (1) (see all 6)
    calcium 0 12 14699087 (4), 9704062 (1), 9610389 (1), 16291754 (1) (see all 6)
    tyrosine 0 2 15864435 (1), 15886816 (1)



    PDIA3 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PDIA3 gene: 
    NM_005313.4  

    Unigene Cluster for PDIA3:

    Protein disulfide isomerase family A, member 3
    Hs.591095  [show with all ESTs]
    Unigene Representative Sequence: NM_005313
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000300289(uc001zsu.3 uc010bdp.3 uc010ued.2) ENST00000469684
    ENST00000446523 ENST00000434494 ENST00000455250 ENST00000497349 ENST00000538521


    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PDIA3 (see all 23):
    hsa-miR-582-3p hsa-miR-148b hsa-miR-520d-5p hsa-miR-10b* hsa-miR-501-5p hsa-miR-3613-3p hsa-miR-1208 hsa-miR-520g
    SwitchGear 3'UTR luciferase reporter plasmidPDIA3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PDIA3
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PDIA3 (NM_005313)
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PDIA3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PDIA3
      QuantiTect SYBR Green Assays in human, mouse, rat PDIA3
      QuantiFast Probe-based Assays in human, mouse, rat PDIA3

    Additional mRNA sequence: 

    AK075455.1 AK075481.1 AK293249.1 BC014433.1 BC036000.1 BC071878.1 D16234.1 D83485.1 
    U42068.1 Z49835.1 

    Selected DOTS entries (see all 62):

    DT.91774848  DT.100658923  DT.100774813  DT.100844394  DT.100657655  DT.100856963  DT.121025163  DT.452142 
    DT.100856961  DT.100856980  DT.100856944  DT.100856962  DT.100856960  DT.121025037  DT.100856973  DT.121024931 
    DT.95362193  DT.100856954  DT.100768670  DT.121025292  DT.121024875  DT.100856957  DT.100856949  DT.95182183 

    Selected AceView cDNA sequences (see all 1011):

    CR595412 BX448080 BM837177 AI688149 AA084549 CA778205 CR608000 H68124 
    BM707771 AU108067 H97776 AA026317 BQ271231 BM763436 AI688180 BM764291 
    AW954127 CA436401 CN483956 CR602263 BP430107 AW340413 BM851735 BM764035 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PDIA3    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15
    SP1:                          -                                                                                             
    SP2:                    -     -                                                                                             
    SP3:                    -                                                                                                   
    SP4:                                                                                                                        
    SP5:                    -     -     -                                                                                       


    ECgene alternative splicing isoforms for PDIA3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PDIA3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGAGGAGT
    PDIA3 Expression
    About this image


    PDIA3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Bone (Muscoskeletal System)
             Bone Marrow
    PDIA3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PDIA3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591095

    UniProtKB/Swiss-Prot: PDIA3_HUMAN, P30101
    Tissue specificity: Detected in the flagellum and head region of spermatozoa (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Array including PDIA3: 
              Unfolded Protein Response in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PDIA3
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PDIA3 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pdia31 , 5 protein disulfide isomerase associated 31, 5 90.17(n)1
    93.07(a)1
      2 (60.38 cM)5
    148271  NM_007952.21  NP_031978.21 
     1214137755 
    chicken
    (Gallus gallus)
    Aves PDIA31 protein disulfide isomerase family A, member 3 77.52(n)
    83.51(a)
      373899  NM_204110.3  NP_989441.1 
    lizard
    (Anolis carolinensis)
    Reptilia PDIA36
    protein disulfide isomerase family A, member 3
    72(a)
    1 ↔ 1
    GL343759.1(215951-226805)
    African clawed frog
    (Xenopus laevis)
    Amphibia grp58-prov2 glucose regulated protein, 58kDa 75.13(n)    BC046707.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.65012 Danio rerio, clone IMAGE3818635, mRNA, partial cds 77.32(n)    BC044524.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ERp601 ERp60 53.86(n)
    51.24(a)
      36270  NM_165849.2  NP_725084.2 
    worm
    (Caenorhabditis elegans)
    Secernentea pdi-31 pdi-3 55.93(n)
    49.1(a)
      172433  NM_059594.6  NP_491995.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes EUG1(YDR518W)4 Protein disulfide isomerase of the endoplasmic reticulum more   --   4(1478608-1480161) 852130  NP_010806.1 
    soybean
    (Glycine max)
    eudicotyledons 467523662   -- 77.08(n)  
    rice
    (Oryza sativa)
    Liliopsida Os04g04363001 Os04g0436300 49.42(n)
    38.98(a)
      4335906  NM_001059387.2  NP_001052852.2 


    ENSEMBL Gene Tree for PDIA3 (if available)
    TreeFam Gene Tree for PDIA3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PDIA3 gene
    PDIA42  ERP272  TMX32  P4HB2  PDIA22  ERP442  PDILT2  
    9 SIMAP similar genes for PDIA3 using alignment to 6 protein entries:     PDIA3_HUMAN (see all proteins):
    PDIA4    PDIA6    TMX3    TXN    PDIA5    P4HB
    PDIA2    DNAJC10    QSOX1

    PDIA3 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for PDIA3
    PGOHUM00000247100 PGOHUM00000244962 PGOHUM00000263284


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PDIA3 (see all 478)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs113569501,2
    C,F--44040501(+) AGAAAC/-CCCCG 1 -- int13Minor allele frequency- -:0.50NA CSA 6
    rs1138570701,2
    C--44040501(+) AGAAAA/CCCCCG 1 -- int10--------
    rs285022891,2
    C--44040532(+) TTAGCC/TGGGCA 1 -- int10--------
    rs1478615011,2
    C--44040626(+) AGCCAC/TGATCC 1 -- int10--------
    rs1894927061,2
    --44040664(+) AGAGCA/GAAACT 1 -- int10--------
    rs1155948271,2
    F--44040713(+) TGAAGG/AGGGTG 1 -- int11Minor allele frequency- A:0.06WA 118
    rs1920083491,2
    --44040714(+) GAAGGA/GGGTGT 1 -- int10--------
    rs1846098501,2
    --44040721(+) GTGTTC/TCCTAC 1 -- int10--------
    rs1903429181,2
    --44040862(+) TTTCAG/TCAAGA 1 -- int10--------
    rs1812195571,2
    --44040898(+) TTGGAA/GTTAAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for PDIA3 (44038590 - 44065477 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for PDIA3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv33661CNV Loss17666407
    dgv2372n71CNV Gain21882294
    dgv742e1CNV Complex17122850
    dgv743e1CNV Complex17122850
    dgv741e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602046    OMIM disorders: --

    Selected diseases for PDIA3 (see all 33):    
    About MalaCards
    pancreatic ductal carcinoma    von willebrand's disease    autoimmune hepatitis    endocarditis
    epididymitis    insulinoma    esophageal cancer    pertussis
    esophagitis    lung adenocarcinoma    esophageal squamous cell carcinoma    prostate cancer
    type 1 diabetes    pancreatitis    cervical cancer    melanoma
    prostatitis    cervicitis    obesity    squamous cell carcinoma


    PDIA3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    7 Novoseek inferred disease relationships for PDIA3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia basophilic 34.2 1 7487104 (1)
    shock 19 7 12923326 (1), 18316623 (1), 19372559 (1), 17868153 (1) (see all 7)
    melanoma 8.94 2 19995546 (2)
    tumors 2.78 8 18684944 (3), 16534743 (1), 10545276 (1), 14522930 (1) (see all 5)
    gastric cancer 0 1 12923326 (1)
    prostate cancer 0 1 18751977 (1)
    cancer 0 1 17353921 (1)

    Genetic Association Database (GAD): PDIA3
    Human Genome Epidemiology (HuGE) Navigator: PDIA3 (1 document)

    Export disorders for PDIA3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PDIA3 gene, integrated from 10 sources (see all 290):
    (articles sorted by number of sources associating them with PDIA3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structures of the human gene for the protein disulfide isomerase- related polypeptide ERp60 and a processed gene and assignment of these genes to 15q15 and 1q21. (PubMed id 9205111)1, 2, 9 Koivunen P.... Kivirikko K.I. (Genomics 1997)
    2. cDNA cloning and baculovirus expression of the human liver endoplasmic reticulum P58: characterization as a protein disulfide isomerase isoform, but not as a protease or a carnitine acyltransferase. (PubMed id 7487104)1, 2, 9 Bourdi M.... Pohl L.R. (Arch. Biochem. Biophys. 1995)
    3. Cloning, expression and genomic organization of human placental protein disulfide isomerase (previously identified as phospholipase C alpha). (PubMed id 8624847)1, 2, 9 Charnock-Jones D.S.... Smith S.K. (Int. J. Biochem. Cell Biol. 1996)
    4. Insights into MHC class I peptide loading from the structure of the tapasin-ERp57 thiol oxidoreductase heterodimer. (PubMed id 19119025)1, 2 Dong G.... Reinisch K.M. (Immunity 2009)
    5. Polymorphisms in mitochondrial genes and prostate cancer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (amp 2008)
    6. ERp27, a new non-catalytic endoplasmic reticulum-located human protein disulfide isomerase family member, interacts with ERp57. (PubMed id 16940051)1, 2 Alanen H.I.... Ruddock L.W. (J. Biol. Chem. 2006)
    7. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (J. Proteome Res. 2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    10. Proteomic analysis of early melanosomes: identification of novel melanosomal proteins. (PubMed id 12643545)1, 2 Basrur V.... Appella E. (J. Proteome Res. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2923 HGNC: 4606 AceView: GRP58 Ensembl:ENSG00000167004 euGenes: HUgn2923
    ECgene: PDIA3 Kegg: 2923 H-InvDB: PDIA3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PDIA3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PDIA3 gene:
    Search GeneIP for patents involving PDIA3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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