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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 60 3 4
  • Endoplasmic Reticulum Resident Protein 57 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
  • EC 5.3.4.1 4 61
  • ERp60 3 4
  • GRP58 3 4
  • ERp57 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
  • HEL-S-269 3
  • HEL-S-93n 3
  • HsT17083 3
  • PI-PLC 3
  • ERp61 3
  • GRP57 3
  • 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 Sinus Cancer. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include poly(A) RNA binding and protein disulfide oxidoreductase activity. An important paralog of this gene is PDIA4.

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

Regulatory Elements for PDIA3 Gene

Enhancers for PDIA3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G043745 1.1 ENCODE 0.7 +0.3 349 2.2 HDGF FOXA2 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 KLF13 SP3 STRCP1 CATSPER2P1 PDIA3
GH15G043743 0.7 ENCODE 0.7 -2.3 -2253 0.4 PKNOX1 MTA2 BHLHE40 MAX GATAD2B DPF2 TBX21 TARDBP IKZF1 NBN ADAL PDIA3 RNU6-354P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PDIA3 on UCSC Golden Path with GeneCards custom track

Promoters for PDIA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000075868 509 2600 HDGF FOXA2 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 SP3 SP5

Genomic Location for PDIA3 Gene

Chromosome:
15
Start:
43,746,392 bp from pter
End:
43,773,279 bp from pter
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

  • Ubiquitination at posLast=9494, Lys104, posLast=296296, Lys305, Lys335, and posLast=362362
  • Glycosylation at posLast=102102, Thr452, and posLast=485485
  • Modification sites at PhosphoSitePlus

Other Protein References for PDIA3 Gene

Domains & Families for PDIA3 Gene

Gene Families for PDIA3 Gene

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:
Catalyzes the rearrangement of -S-S- bonds in proteins.

Enzyme Numbers (IUBMB) for PDIA3 Gene

Gene Ontology (GO) - Molecular Function for PDIA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0003756 protein disulfide isomerase activity IBA,TAS --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

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
nucleus 5
endoplasmic reticulum 5
endosome 4
plasma membrane 2
cytoskeleton 2
cytosol 2
golgi apparatus 2
mitochondrion 1

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 IDA 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 7487104
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

(10) Drugs for PDIA3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(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

Unigene Clusters for PDIA3 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
PDIA3

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, PaxDb, 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:

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(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(2.6)
  • Eye(2.4)
  • Lymph node(2.2)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with PDIA3: view

Primer Products

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 34 35
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 96 (a)
OneToMany
PDIA3 34
  • 92.52 (n)
-- 35
  • 85 (a)
OneToMany
cow
(Bos Taurus)
Mammalia PDIA3 34 35
  • 92.61 (n)
mouse
(Mus musculus)
Mammalia Pdia3 34 16 35
  • 90.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PDIA3 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdia3 34
  • 89.57 (n)
oppossum
(Monodelphis domestica)
Mammalia PDIA3 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDIA3 34 35
  • 77.52 (n)
lizard
(Anolis carolinensis)
Reptilia PDIA3 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdia3 34
  • 73.85 (n)
MGC75624 34
African clawed frog
(Xenopus laevis)
Amphibia grp58-prov 34
zebrafish
(Danio rerio)
Actinopterygii pdia3 34 35
  • 72.46 (n)
Dr.6501 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007393 34
  • 53.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta ERp60 34 35
  • 53.86 (n)
worm
(Caenorhabditis elegans)
Secernentea pdi-3 34 35
  • 55.93 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDI1 35
  • 28 (a)
ManyToMany
EUG1 37 35
  • 25 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.651 34
rice
(Oryza sativa)
Liliopsida Os04g0436300 34
  • 49.42 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.796 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7969 35
  • 46 (a)
OneToOne
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

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

Paralogs for PDIA3 Gene

Paralogs for PDIA3 Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type
rs1000111513 -- 43,767,611(+) CTAAA(A/C)ATACA intron-variant
rs1000264429 -- 43,760,497(+) ACTAT(A/G)CATTG intron-variant
rs1000394505 -- 43,767,336(+) AACAA(G/T)AGCGA intron-variant
rs1000469571 -- 43,760,800(+) TGCTG(G/T)GATTA intron-variant
rs1000583427 -- 43,766,524(+) GTATC(A/G)CCAAT 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)

Relevant External Links for PDIA3 Gene

Human Gene Mutation Database (HGMD)
PDIA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDIA3

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: DISEASES and GeneCards

Disorder Aliases PubMed IDs
maxillary sinus squamous cell carcinoma
  • epidermoid carcinoma of the maxillofacial sinus
sinus cancer
anomalous left coronary artery from the pulmonary artery
  • alcapa
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

Relevant External Links for PDIA3

Genetic Association Database (GAD)
PDIA3
Human Genome Epidemiology (HuGE) Navigator
PDIA3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDIA3
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 K.I. (Genomics 1997) 3 4 22 64
  2. Cloning, expression and genomic organization of human placental protein disulfide isomerase (previously identified as phospholipase C alpha). (PMID: 8624847) Charnock-Jones D.S. … Smith S.K. (Int. J. Biochem. Cell Biol. 1996) 3 4 22 64
  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 L.R. (Arch. Biochem. Biophys. 1995) 3 4 22 64
  4. SERPINA2 is a novel gene with a divergent function from SERPINA1. (PMID: 23826168) Marques P.I. … Seixas S. (PLoS ONE 2013) 3 4 64
  5. Protein disulfide isomerase chaperone ERP-57 decreases plasma membrane expression of the human GnRH receptor. (PMID: 20029959) Ayala YA!A+ez R. … Conn P.M. (Cell Biochem. Funct. 2010) 3 22 64

Products for PDIA3 Gene

Sources for PDIA3 Gene

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