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 ... See more...

Aliases for PDIA3 Gene

Aliases for PDIA3 Gene

  • Protein Disulfide Isomerase Family A Member 3 2 3 5
  • ERp57 2 3 4
  • ERp60 2 3 4
  • P58 2 3 4
  • 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
  • Protein Disulfide-Isomerase A3 3 4
  • 58 KDa Microsomal Protein 3 4
  • Disulfide Isomerase ER-60 3 4
  • ER Protein 57 3 4
  • ER Protein 60 3 4
  • EC 5.3.4.1 4 51
  • HsT17083 2 3
  • PI-PLC 2 3
  • ERp61 2 3
  • GRP57 2 3
  • GRP58 3 4
  • Epididymis Secretory Sperm Binding Protein Li 93n 3
  • Protein Disulfide Isomerase Family A, Member 3 2
  • Epididymis Secretory Protein Li 269 3
  • Endoplasmic Reticulum P58 3
  • Phospholipase C-Alpha 3
  • HEL-S-269 3
  • HEL-S-93n 3
  • PDIA3 5
  • 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 Alcoholic Gastritis. Among its related pathways are Antigen processing-Cross presentation and Calnexin/calreticulin cycle. Gene Ontology (GO) annotations related to this gene include protein disulfide oxidoreductase activity. An important paralog of this gene is PDIA4.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDIA3 Gene

Genomics for PDIA3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PDIA3 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDIA3

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

Genomic Locations for PDIA3 Gene

Genomic Locations for PDIA3 Gene
chr15:43,746,410-43,773,278
(GRCh38/hg38)
Size:
26,869 bases
Orientation:
Plus strand
chr15:44,038,590-44,065,477
(GRCh37/hg19)
Size:
26,888 bases
Orientation:
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:
    P30101-PDIA3_HUMAN
    Recommended name:
    Protein disulfide-isomerase A3
    Protein Accession:
    P30101
    Secondary Accessions:
    • Q13453
    • Q14255
    • Q8IYF8
    • Q9UMU7

    Protein attributes for PDIA3 Gene

    Size:
    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

Selected DME Specific Peptides for PDIA3 Gene

P30101:
  • EYDDNGEGI
  • AYYDVDYEKN
  • KSEPIPE
  • NTCNKYGVSGYPTLKIFRDGEE
  • GFPTIYF
  • LVEFFAP
  • PKKYEGGRE
  • ARLAAASDVLELTD
  • NKFEDKTVAYTE
  • NLRDNYRFAHT
  • CPHMTEDNKDLIQGKDLL
  • EFFAPWCGHCK
  • NDGPVKVVVAENFDEIVN
  • LAPEYEAAATRLKGIVPLAKVDCTANTNTCNKYGVSGYP
  • VLIEFYAPWCGHC
  • PVVAIRTAKG
  • FIQENIFGICPHMTEDNKDL
  • YDGPRTADGIVSHLKKQAGPASV
  • FAVASRKTF

Post-translational modifications for PDIA3 Gene

  • Glycosylation at Thr102, Thr452, Ser456, and Thr485
  • Ubiquitination at Lys94, Lys104, Lys296, Lys305, Lys335, and Lys362
  • Modification sites at PhosphoSitePlus

Other Protein References for PDIA3 Gene

Antibody Products

  • Abcam antibodies for PDIA3

Domains & Families for PDIA3 Gene

Gene Families for PDIA3 Gene

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

Protein Domains for PDIA3 Gene

Suggested Antigen Peptide Sequences for PDIA3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA PSEC0175 fis, clone OVARC1000169, highly similar to Protein disulfide-isomerase A3 (EC 5.3.4.1) (B3KQT9_HUMAN)
  • Endoplasmic reticulum resident protein 60 (PDIA3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P30101

UniProtKB/Swiss-Prot:

PDIA3_HUMAN :
  • Belongs to the protein disulfide isomerase family.
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:
Reaction=Catalyzes the rearrangement of -S-S- bonds in proteins.; EC=5.3.4.1; Evidence={ECO:0000269|PubMed:7487104};.

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 TAS,IBA 21873635
GO:0004197 cysteine-type endopeptidase activity TAS 9399589
GO:0004629 phospholipase C activity TAS --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

COMPARTMENTS
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
endoplasmic reticulum 5
nucleus 4
endosome 4
golgi apparatus 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
cytosol 2
lysosome 2
peroxisome 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 IBA,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

Pathways by source for PDIA3 Gene

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 IBA,TAS --
GO:0006508 proteolysis IEA --
GO:0034975 protein folding in endoplasmic reticulum TAS 22013210
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 249
Zinc Approved, Investigational Pharma Target 1594
zinc acetate Approved, Investigational Pharma Target 0
Zinc chloride Approved, Investigational Pharma Target, binder 0
Zinc sulfate, unspecified form Approved, Experimental Pharma Target, binder 0

(5) 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

1 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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: -
SP4:
SP5: - - -

Relevant External Links for PDIA3 Gene

GeneLoc Exon Structure for
PDIA3

Expression for PDIA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PDIA3

SOURCE GeneReport for Unigene cluster for PDIA3 Gene:

Hs.591095

mRNA Expression by UniProt/SwissProt for PDIA3 Gene:

P30101-PDIA3_HUMAN
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(5)
  • Liver(4.8)
  • Lung(4.8)
  • Skin(4.8)
  • Heart(4.7)
  • Blood(4.7)
  • Pancreas(4.7)
  • Intestine(4.6)
  • Stomach(4.2)
  • Kidney(3.8)
  • Spleen(3.2)
  • Thyroid gland(3.2)
  • Eye(3)
  • Muscle(2.9)
  • Lymph node(2.8)
  • Bone marrow(2.6)
  • Adrenal gland(2.4)
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
Chimpanzee
(Pan troglodytes)
Mammalia PDIA3 30 31
  • 99.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 31
  • 96 (a)
OneToMany
PDIA3 30
  • 92.52 (n)
-- 31
  • 85 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia PDIA3 30 31
  • 92.61 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pdia3 30 17 31
  • 90.17 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PDIA3 31
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pdia3 30
  • 89.57 (n)
Oppossum
(Monodelphis domestica)
Mammalia PDIA3 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PDIA3 30 31
  • 77.52 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PDIA3 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pdia3 30
  • 73.85 (n)
MGC75624 30
African clawed frog
(Xenopus laevis)
Amphibia grp58-prov 30
Zebrafish
(Danio rerio)
Actinopterygii pdia3 30 31
  • 72.46 (n)
OneToOne
Dr.6501 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007393 30
  • 53.91 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta ERp60 30 31
  • 53.86 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea pdi-3 30 31
  • 55.93 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDI1 31
  • 28 (a)
ManyToMany
EUG1 31 33
  • 25 (a)
ManyToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.651 30
Rice
(Oryza sativa)
Liliopsida Os04g0436300 30
  • 49.42 (n)
Wheat
(Triticum aestivum)
Liliopsida Ta.796 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7969 31
  • 46 (a)
OneToOne
Species where no ortholog for PDIA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

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

Paralogs for PDIA3 Gene

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

  • PDIA3_HUMAN
  • F8WBS6_HUMAN
  • F8WBW5_HUMAN
  • G5EA52_HUMAN
  • H7BZJ3_HUMAN
  • L8EAE7_HUMAN

Pseudogenes.org Pseudogenes for PDIA3 Gene

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

Variants for PDIA3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDIA3 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
714532 Benign: not provided 43,753,815(+) C/T INTRON_VARIANT
727554 Benign: not provided 43,746,595(+) C/T MISSENSE_VARIANT
727555 Benign: not provided 43,766,740(+) G/A SYNONYMOUS_VARIANT
757646 Likely Benign: not provided 43,765,983(+) C/T SYNONYMOUS_VARIANT
rs1555455456 Likely Pathogenic: Intellectual functioning disability 43,753,826(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PDIA3 Gene

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)
PDIA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDIA3

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

(2) MalaCards diseases for PDIA3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
maxillary sinus squamous cell carcinoma
  • epidermoid carcinoma of the maxillofacial sinus
alcoholic gastritis
  • alcoholic gastritis, with hemorrhage
- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23
  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 23
  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 23
  4. SERPINA2 is a novel gene with a divergent function from SERPINA1. (PMID: 23826168) Marques PI … Seixas S (PloS one 2013) 3 4
  5. Glucose-regulated protein precursor (GRP78) and tumor rejection antigen (GP96) are unique to hamster caput epididymal spermatozoa. (PMID: 20400973) Kameshwari DB … Shivaji S (Asian journal of andrology 2010) 4 23

Products for PDIA3 Gene

  • Addgene plasmids for PDIA3

Sources for PDIA3 Gene