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Aliases for PDIA3 Gene

Aliases for PDIA3 Gene

  • Protein Disulfide Isomerase Family A Member 3 2 3 5
  • Endoplasmic Reticulum Resident Protein 57 3 4
  • Endoplasmic Reticulum Resident Protein 60 3 4
  • Protein Disulfide Isomerase-Associated 3 2 3
  • Glucose Regulated Protein, 58kDa 2 3
  • 58 KDa Glucose-Regulated Protein 3 4
  • Disulfide Isomerase ER-60 3 4
  • 58 KDa Microsomal Protein 3 4
  • ER Protein 57 3 4
  • ER Protein 60 3 4
  • GRP58 3 4
  • ERp57 3 4
  • ERp60 3 4
  • P58 3 4
  • Epididymis Secretory Sperm Binding Protein Li 93n 3
  • Protein Disulfide Isomerase Family A, Member 3 2
  • Epididymis Secretory Protein Li 269 3
  • Protein Disulfide-Isomerase A3 3
  • Endoplasmic Reticulum P58 3
  • Phospholipase C-Alpha 3
  • EC 4
  • HEL-S-269 3
  • HEL-S-93n 3
  • HsT17083 3
  • PI-PLC 3
  • ERp61 3
  • GRP57 3
  • ERP57 4
  • ERP60 4
  • ER60 3

External Ids for PDIA3 Gene

Previous HGNC Symbols for PDIA3 Gene

  • GRP58

Previous GeneCards Identifiers for PDIA3 Gene

  • GC15P041826
  • GC15P044038
  • GC15P020861

Summaries for PDIA3 Gene

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. This protein also functions as a molecular chaperone that prevents the formation of protein aggregates. [provided by RefSeq, Dec 2016]

GeneCards Summary for PDIA3 Gene

PDIA3 (Protein Disulfide Isomerase Family A Member 3) is a Protein Coding gene. Diseases associated with PDIA3 include Maxillary Sinus Squamous Cell Carcinoma and Anomalous Left Coronary Artery From The Pulmonary Artery. Among its related pathways are Calnexin/calreticulin cycle and Protein processing in endoplasmic reticulum. Gene Ontology (GO) annotations related to this gene include protein disulfide oxidoreductase activity. An important paralog of this gene is PDIA4.

Additional gene information for PDIA3 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDIA3 Gene

Genomics for PDIA3 Gene

GeneHancer (GH) Regulatory Elements for PDIA3 Gene

Promoters and enhancers for PDIA3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J043745 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.5 509 2.6 HDGF ARID4B SIN3A DMAP1 ZNF2 POLR2B ZNF143 SP3 SP5 NFYC PDIA3 CATSPER2P1 STRCP1 CTDSPL2 WDR76 MFAP1 SPG11 LCMT2 ELL3 ZSCAN29
GH15J043648 Promoter 1 EPDnew Ensembl 650.2 -97.2 -97191 1.6 PDIA3P2 CATSPER2 PDIA3 ADAL ENSG00000249839 TGM7 STRCP1 ZSCAN29 STRC
GH15J043743 Enhancer 0.7 ENCODE 0.7 -2.3 -2252 0.4 PKNOX1 MAX ATF7 IKZF2 CREM ZNF687 DPF2 ELF1 MEF2B ZNF217 ADAL PDIA3 CATSPER2P1 RNU6-354P
GH15J043749 Enhancer 0.6 ENCODE 0.7 +3.8 3813 1.7 PKNOX1 ELF1 ZNF384 ZNF121 PRDM10 ATF7 CREM PRDM1 ZNF18 STRC SERF2 MIR1282 HYPK CATSPER2P1 PDIA3
GH15J043769 Enhancer 0.6 ENCODE 0.3 +23.4 23406 0.2 CTCF FOXA2 TEAD1 FOXA3 TEAD4 TRIM22 ERF ZNF384 RAD21 RFX5 MIR1282 HYPK SERF2 CATSPER2P1 PDIA3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDIA3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PDIA3 gene promoter:
  • AP-1
  • c-Jun
  • ATF-2
  • FOXL1
  • CREB
  • E47
  • Hand1
  • AML1a
  • c-Myb

Genomic Locations for PDIA3 Gene

Genomic Locations for PDIA3 Gene
26,888 bases
Plus strand
26,888 bases
Plus strand

Genomic View for PDIA3 Gene

Genes around PDIA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDIA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDIA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDIA3 Gene

Proteins for PDIA3 Gene

  • Protein details for PDIA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein disulfide-isomerase A3
    Protein Accession:
    Secondary Accessions:
    • Q13453
    • Q14255
    • Q8IYF8
    • Q9UMU7

    Protein attributes for PDIA3 Gene

    505 amino acids
    Molecular mass:
    56782 Da
    Quaternary structure:
    • 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 SERPINA2 and with the S and Z variants of SERPINA1. Interacts with ATP2A2 (By similarity).

    Three dimensional structures from OCA and Proteopedia for PDIA3 Gene

neXtProt entry for PDIA3 Gene

Post-translational modifications for PDIA3 Gene

  • Glycosylation at Thr485, isoforms=452, and isoforms=102
  • Ubiquitination at Lys362, isoforms=335, isoforms=305, isoforms=296, Lys104, and isoforms=94
  • Modification sites at PhosphoSitePlus

Other Protein References for PDIA3 Gene

No data available for DME Specific Peptides for PDIA3 Gene

Domains & Families for PDIA3 Gene

Gene Families for PDIA3 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the protein disulfide isomerase family.
  • Belongs to the protein disulfide isomerase family.
genes like me logo Genes that share domains with PDIA3: view

Function for PDIA3 Gene

Molecular function for PDIA3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Catalyzes the rearrangement of -S-S- bonds in proteins.

Enzyme Numbers (IUBMB) for PDIA3 Gene

Phenotypes From GWAS Catalog for PDIA3 Gene

Gene Ontology (GO) - Molecular Function for PDIA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003756 protein disulfide isomerase activity IBA --
GO:0004197 cysteine-type endopeptidase activity TAS 9399589
GO:0004629 phospholipase C activity TAS 3398923
GO:0005515 protein binding IPI 15896298
genes like me logo Genes that share ontologies with PDIA3: view
genes like me logo Genes that share phenotypes with PDIA3: view

Animal Models for PDIA3 Gene

MGI Knock Outs for PDIA3:

Animal Model Products

  • Taconic Biosciences Mouse Models for PDIA3

Clone Products

  • Addgene plasmids for PDIA3

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PDIA3 Gene

Localization for PDIA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDIA3 Gene

Endoplasmic reticulum. Endoplasmic reticulum lumen. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:12643545). {ECO:0000269 PubMed:12643545}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDIA3 gene
Compartment Confidence
extracellular 5
nucleus 5
endoplasmic reticulum 5
endosome 4
plasma membrane 2
cytoskeleton 2
cytosol 2
golgi apparatus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PDIA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 19995400
GO:0005623 cell IEA --
GO:0005634 nucleus HDA 21630459
GO:0005783 endoplasmic reticulum TAS 16130169
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with PDIA3: view

Pathways & Interactions for PDIA3 Gene

genes like me logo Genes that share pathways with PDIA3: view

Gene Ontology (GO) - Biological Process for PDIA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0006457 protein folding TAS --
GO:0006508 proteolysis IEA --
GO:0006606 protein import into nucleus TAS --
genes like me logo Genes that share ontologies with PDIA3: view

No data available for SIGNOR curated interactions for PDIA3 Gene

Drugs & Compounds for PDIA3 Gene

(13) Drugs for PDIA3 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 202
Zinc Approved, Investigational Pharma Target 2430

(4) Additional Compounds for PDIA3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PDIA3: view

Transcripts for PDIA3 Gene

mRNA/cDNA for PDIA3 Gene

Unigene Clusters for PDIA3 Gene

Protein disulfide isomerase family A, member 3:
Representative Sequences:

Clone Products

  • Addgene plasmids for PDIA3

Alternative Splicing Database (ASD) splice patterns (SP) for PDIA3 Gene

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

Relevant External Links for PDIA3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PDIA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDIA3 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PDIA3 Gene

Protein tissue co-expression partners for PDIA3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PDIA3 Gene:


SOURCE GeneReport for Unigene cluster for PDIA3 Gene:


mRNA Expression by UniProt/SwissProt for PDIA3 Gene:

Tissue specificity: Detected in the flagellum and head region of spermatozoa (at protein level).

Evidence on tissue expression from TISSUES for PDIA3 Gene

  • Nervous system(4.9)
  • Liver(4.8)
  • Lung(4.8)
  • Blood(4.6)
  • Heart(4.6)
  • Pancreas(4.6)
  • Skin(4.6)
  • Intestine(4.5)
  • Stomach(4)
  • Kidney(3.5)
  • Thyroid gland(2.8)
  • Spleen(2.7)
  • Eye(2.4)
  • Lymph node(2.2)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with PDIA3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PDIA3 Gene

Orthologs for PDIA3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PDIA3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PDIA3 34 33
  • 99.74 (n)
(Canis familiaris)
Mammalia -- 34
  • 96 (a)
PDIA3 33
  • 92.52 (n)
-- 34
  • 85 (a)
(Bos Taurus)
Mammalia PDIA3 34 33
  • 92.61 (n)
(Mus musculus)
Mammalia Pdia3 16 34 33
  • 90.17 (n)
(Ornithorhynchus anatinus)
Mammalia PDIA3 34
  • 90 (a)
(Rattus norvegicus)
Mammalia Pdia3 33
  • 89.57 (n)
(Monodelphis domestica)
Mammalia PDIA3 34
  • 86 (a)
(Gallus gallus)
Aves PDIA3 34 33
  • 77.52 (n)
(Anolis carolinensis)
Reptilia PDIA3 34
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pdia3 33
  • 73.85 (n)
MGC75624 33
African clawed frog
(Xenopus laevis)
Amphibia grp58-prov 33
(Danio rerio)
Actinopterygii pdia3 34 33
  • 72.46 (n)
Dr.6501 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007393 33
  • 53.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta ERp60 34 33
  • 53.86 (n)
(Caenorhabditis elegans)
Secernentea pdi-3 34 33
  • 55.93 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDI1 34
  • 28 (a)
EUG1 36 34
  • 25 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.651 33
(Oryza sativa)
Liliopsida Os04g0436300 33
  • 49.42 (n)
(Triticum aestivum)
Liliopsida Ta.796 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7969 34
  • 46 (a)
Species where no ortholog for PDIA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PDIA3 Gene

Gene Tree for PDIA3 (if available)
Gene Tree for PDIA3 (if available)
Evolutionary constrained regions (ECRs) for PDIA3: view image

Paralogs for PDIA3 Gene

Paralogs for PDIA3 Gene

(9) SIMAP similar genes for PDIA3 Gene using alignment to 6 proteins:

  • G5EA52_HUMAN
  • L8EAE7_HUMAN Pseudogenes for PDIA3 Gene

genes like me logo Genes that share paralogs with PDIA3: view

Variants for PDIA3 Gene

Sequence variations from dbSNP and Humsavar for PDIA3 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000111513 -- 43,767,611(+) A/C intron_variant
rs1000264429 -- 43,760,497(+) G/A intron_variant
rs1000394505 -- 43,767,336(+) G/T intron_variant
rs1000469571 -- 43,760,800(+) T/G intron_variant
rs1000583427 -- 43,766,524(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PDIA3 Gene

Variant ID Type Subtype PubMed ID
esv2760028 CNV gain+loss 17122850
esv33661 CNV loss 17666407
esv3569520 CNV gain 25503493
esv3636297 CNV gain 21293372
nsv1036318 CNV gain 25217958
nsv976928 CNV duplication 23825009

Variation tolerance for PDIA3 Gene

Residual Variation Intolerance Score: 39.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.54; 29.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDIA3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDIA3 Gene

Disorders for PDIA3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PDIA3 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
maxillary sinus squamous cell carcinoma
  • epidermoid carcinoma of the maxillofacial sinus
anomalous left coronary artery from the pulmonary artery
  • alcapa
charcot-marie-tooth disease, axonal, type 2u
  • cmt2u
maxillary sinus cancer
  • malignant neoplasm of antrum
paranasal sinus cancer
  • adenoid cystic carcinoma of accessory sinus
- elite association - COSMIC cancer census association via MalaCards
Search PDIA3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PDIA3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PDIA3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PDIA3 Gene

Publications for PDIA3 Gene

  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. (PMID: 9205111) Koivunen P … Kivirikko KI (Genomics 1997) 3 4 22 58
  2. Cloning, expression and genomic organization of human placental protein disulfide isomerase (previously identified as phospholipase C alpha). (PMID: 8624847) Charnock-Jones DS … Smith SK (The international journal of biochemistry & cell biology 1996) 3 4 22 58
  3. 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. (PMID: 7487104) Bourdi M … Pohl LR (Archives of biochemistry and biophysics 1995) 3 4 22 58
  4. SERPINA2 is a novel gene with a divergent function from SERPINA1. (PMID: 23826168) Marques PI … Seixas S (PloS one 2013) 3 4 58
  5. Role of ERp57 in the signaling and transcriptional activity of STAT3 in a melanoma cell line. (PMID: 19995546) Chichiarelli S … Eufemi M (Archives of biochemistry and biophysics 2010) 3 22 58

Products for PDIA3 Gene

Sources for PDIA3 Gene

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