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Aliases for PDIA6 Gene

Aliases for PDIA6 Gene

  • Protein Disulfide Isomerase Family A Member 6 2 3 5
  • Thioredoxin Domain Containing 7 (Protein Disulfide Isomerase) 2 3
  • Protein Disulfide Isomerase-Related Protein 2 3
  • Protein Disulfide Isomerase-Associated 6 2 3
  • Thioredoxin Domain-Containing Protein 7 3 4
  • Endoplasmic Reticulum Protein 5 3 4
  • Protein Disulfide Isomerase P5 3 4
  • ER Protein 5 3 4
  • TXNDC7 3 4
  • ERP5 3 4
  • P5 3 4
  • Protein Disulfide Isomerase Family A, Member 6 2
  • Protein Disulfide-Isomerase A6 3
  • EC 5.3.4.1 4
  • ERp5 4

External Ids for PDIA6 Gene

Previous HGNC Symbols for PDIA6 Gene

  • TXNDC7

Previous GeneCards Identifiers for PDIA6 Gene

  • GC02M010875
  • GC02M010923

Summaries for PDIA6 Gene

Entrez Gene Summary for PDIA6 Gene

  • This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, two catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. This protein inhibits the aggregation of misfolded proteins and exhibits both isomerase and chaperone activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

GeneCards Summary for PDIA6 Gene

PDIA6 (Protein Disulfide Isomerase Family A Member 6) is a Protein Coding gene. Among its related pathways are Protein processing in endoplasmic reticulum and Photodynamic therapy-induced unfolded protein response. Gene Ontology (GO) annotations related to this gene include isomerase activity and protein disulfide isomerase activity. An important paralog of this gene is DNAJC10.

UniProtKB/Swiss-Prot for PDIA6 Gene

  • May function as a chaperone that inhibits aggregation of misfolded proteins (PubMed:12204115). Negatively regulates the unfolded protein response (UPR) through binding to UPR sensors such as ERN1, which in turn inactivates ERN1 signaling (PubMed:24508390). May also regulate the UPR via the EIF2AK3 UPR sensor (PubMed:24508390). Plays a role in platelet aggregation and activation by agonists such as convulxin, collagen and thrombin (PubMed:15466936).

Additional gene information for PDIA6 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDIA6 Gene

Genomics for PDIA6 Gene

GeneHancer (GH) Regulatory Elements for PDIA6 Gene

Promoters and enhancers for PDIA6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J010809 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 656.6 +26.3 26270 3.8 HDGF PKNOX1 SMAD1 ARNT ZFP64 SIN3A DMAP1 IRF4 ZNF143 FOS PDIA6 NOL10 ATP6V1C2 LOC101929882 LOC105373428 RNU7-176P
GH02J010772 Enhancer 0.8 Ensembl ENCODE 17.6 +63.5 63469 3.5 ZNF263 ZNF687 CEBPB MNT NFXL1 ZNF592 GATA3 POLR2A ZBTB33 ZNF444 LOC105373428 PDIA6 LOC101929882 RNU7-176P TAF1B ATP6V1C2
GH02J010901 Enhancer 0.8 Ensembl ENCODE 11.7 -63.4 -63356 0.3 SMARCE1 CEBPB DPF2 ELF1 JUND XRCC5 FOS FOSL2 PDIA6 RNU7-176P KCNF1 LINC01954
GH02J010900 Enhancer 0.6 ENCODE 11.9 -62.4 -62423 0.2 ELF3 CTCF ZNF10 TRIM22 ELF1 RAD21 ATF2 GABPA GATA3 XRCC5 ENSG00000232056 PDIA6 KCNF1 LINC01954
GH02J010814 Enhancer 0.6 Ensembl 6.8 +23.4 23376 0.8 GATAD2A CTCF SAP130 ZMYM3 REST DNMT3B XRCC5 RCOR2 MBD1 ZFP36 RNU7-176P LOC105373428 PDIA6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDIA6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PDIA6 gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • AML1a
  • Tal-1
  • E47
  • Tal-1beta
  • S8
  • TBP
  • Pax-3

Genomic Locations for PDIA6 Gene

Genomic Locations for PDIA6 Gene
chr2:10,783,391-10,837,977
(GRCh38/hg38)
Size:
54,587 bases
Orientation:
Minus strand
chr2:10,923,517-10,978,103
(GRCh37/hg19)
Size:
54,587 bases
Orientation:
Minus strand

Genomic View for PDIA6 Gene

Genes around PDIA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDIA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDIA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDIA6 Gene

Proteins for PDIA6 Gene

  • Protein details for PDIA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15084-PDIA6_HUMAN
    Recommended name:
    Protein disulfide-isomerase A6
    Protein Accession:
    Q15084
    Secondary Accessions:
    • B3KY95
    • B5MCQ5
    • B7Z254
    • B7Z4M8
    • F8WA83
    • Q53RC7
    • Q6ZSH5
    • Q99778

    Protein attributes for PDIA6 Gene

    Size:
    440 amino acids
    Molecular mass:
    48121 Da
    Quaternary structure:
    • Part of a large chaperone multiprotein complex comprising DNAJB11, HSP90B1, HSPA5, HYOU, PDIA2, PDIA4, PDIA6, PPIB, SDF2L1, UGT1A1 and very small amounts of ERP29, but not, or at very low levels, CALR nor CANX (PubMed:12475965). Interacts with MICA on the surface of tumor cells, leading to MICA disulfide bond reduction which is required for its release from tumor cells (PubMed:17495932). Interacts with ITGB3 following platelet stimulation (PubMed:15466936). Interacts with ERN1; the interaction is direct (PubMed:24508390). Interacts with EIF2AK3 (PubMed:24508390).

    Three dimensional structures from OCA and Proteopedia for PDIA6 Gene

    Alternative splice isoforms for PDIA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDIA6 Gene

Post-translational modifications for PDIA6 Gene

  • Ubiquitination at Lys368, Lys245, isoforms=2, 3, 4, 5241, Lys216, and Lys108
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PDIA6 Gene

Domains & Families for PDIA6 Gene

Gene Families for PDIA6 Gene

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

Suggested Antigen Peptide Sequences for PDIA6 Gene

Graphical View of Domain Structure for InterPro Entry

Q15084

UniProtKB/Swiss-Prot:

PDIA6_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 PDIA6: view

Function for PDIA6 Gene

Molecular function for PDIA6 Gene

UniProtKB/Swiss-Prot Function:
May function as a chaperone that inhibits aggregation of misfolded proteins (PubMed:12204115). Negatively regulates the unfolded protein response (UPR) through binding to UPR sensors such as ERN1, which in turn inactivates ERN1 signaling (PubMed:24508390). May also regulate the UPR via the EIF2AK3 UPR sensor (PubMed:24508390). Plays a role in platelet aggregation and activation by agonists such as convulxin, collagen and thrombin (PubMed:15466936).
UniProtKB/Swiss-Prot CatalyticActivity:
Catalyzes the rearrangement of -S-S- bonds in proteins.

Enzyme Numbers (IUBMB) for PDIA6 Gene

Phenotypes From GWAS Catalog for PDIA6 Gene

Gene Ontology (GO) - Molecular Function for PDIA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003756 protein disulfide isomerase activity IBA --
GO:0005515 protein binding IPI 15466936
GO:0015037 peptide disulfide oxidoreductase activity IDA 16677074
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with PDIA6: view
genes like me logo Genes that share phenotypes with PDIA6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PDIA6

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PDIA6 Gene

Localization for PDIA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDIA6 Gene

Endoplasmic reticulum lumen. Cell membrane. 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 PDIA6 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
cytosol 5
plasma membrane 4
mitochondrion 1
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PDIA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 19995400
GO:0005783 endoplasmic reticulum TAS 16130169
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA 15308636
genes like me logo Genes that share ontologies with PDIA6: view

Pathways & Interactions for PDIA6 Gene

genes like me logo Genes that share pathways with PDIA6: view

Pathways by source for PDIA6 Gene

Gene Ontology (GO) - Biological Process for PDIA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS 7590364
GO:0034976 response to endoplasmic reticulum stress IBA --
GO:0036498 IRE1-mediated unfolded protein response TAS --
GO:0043277 apoptotic cell clearance IBA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with PDIA6: view

No data available for SIGNOR curated interactions for PDIA6 Gene

Drugs & Compounds for PDIA6 Gene

No Compound Related Data Available

Transcripts for PDIA6 Gene

Unigene Clusters for PDIA6 Gene

Protein disulfide isomerase family A, member 6:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDIA6 Gene

No ASD Table

Relevant External Links for PDIA6 Gene

GeneLoc Exon Structure for
PDIA6
ECgene alternative splicing isoforms for
PDIA6

Expression for PDIA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDIA6 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PDIA6 Gene



Protein tissue co-expression partners for PDIA6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PDIA6 Gene:

PDIA6

SOURCE GeneReport for Unigene cluster for PDIA6 Gene:

Hs.212102

mRNA Expression by UniProt/SwissProt for PDIA6 Gene:

Q15084-PDIA6_HUMAN
Tissue specificity: Expressed in platelets (at protein level).

Evidence on tissue expression from TISSUES for PDIA6 Gene

  • Liver(4.9)
  • Nervous system(4.9)
  • Intestine(3.8)
  • Lung(3.8)
  • Pancreas(3.6)
  • Skin(3.4)
  • Kidney(2.9)
  • Eye(2.8)
  • Thyroid gland(2.3)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with PDIA6: 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 PDIA6 Gene

Orthologs for PDIA6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PDIA6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDIA6 34 33
  • 99.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 95 (a)
OneToMany
PDIA6 33
  • 88.33 (n)
-- 34
  • 68 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia PDIA6 34
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PDIA6 34 33
  • 88.79 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDIA6 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pdia6 16 34 33
  • 87.05 (n)
rat
(Rattus norvegicus)
Mammalia Pdia6 33
  • 86.89 (n)
chicken
(Gallus gallus)
Aves PDIA6 34 33
  • 77.5 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDIA6 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdia6 33
  • 73.64 (n)
zebrafish
(Danio rerio)
Actinopterygii pdip5 34 33
  • 72.48 (n)
OneToOne
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10220 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001919 33
  • 60 (n)
fruit fly
(Drosophila melanogaster)
Insecta CaBP1 34 33
  • 59.74 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tag-320 33
  • 59.66 (n)
pdi-6 34
  • 55 (a)
OneToMany
Y49E10.4 34
  • 44 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MPD1 36 34
  • 27 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PDIL2-2 33
  • 52.9 (n)
rice
(Oryza sativa)
Liliopsida Os09g0451500 33
  • 51.18 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 55 (a)
OneToMany
-- 34
  • 44 (a)
OneToMany
Species where no ortholog for PDIA6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDIA6 Gene

ENSEMBL:
Gene Tree for PDIA6 (if available)
TreeFam:
Gene Tree for PDIA6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDIA6: view image

Paralogs for PDIA6 Gene

Paralogs for PDIA6 Gene

(6) SIMAP similar genes for PDIA6 Gene using alignment to 5 proteins:

  • PDIA6_HUMAN
  • B5MCQ5_HUMAN
  • B7Z254_HUMAN
  • C9JNG5_HUMAN
  • F8WA83_HUMAN
genes like me logo Genes that share paralogs with PDIA6: view

Variants for PDIA6 Gene

Sequence variations from dbSNP and Humsavar for PDIA6 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000017519 -- 10,793,501(-) G/A intron_variant
rs1000055335 -- 10,808,054(-) C/A intron_variant
rs1000073764 -- 10,832,578(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000083670 -- 10,787,920(-) G/A intron_variant
rs1000282763 -- 10,816,446(-) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PDIA6 Gene

Variant ID Type Subtype PubMed ID
esv2719659 CNV deletion 23290073
nsv1000731 CNV gain 25217958
nsv478379 CNV novel sequence insertion 20440878
nsv508074 OTHER sequence alteration 20534489
nsv524969 CNV loss 19592680
nsv580968 CNV loss 21841781

Variation tolerance for PDIA6 Gene

Residual Variation Intolerance Score: 18.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.69; 86.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDIA6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDIA6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDIA6 Gene

Disorders for PDIA6 Gene

Additional Disease Information for PDIA6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PDIA6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PDIA6 Gene

Publications for PDIA6 Gene

  1. Disulphide-isomerase-enabled shedding of tumour-associated NKG2D ligands. (PMID: 17495932) Kaiser BK … Spies T (Nature 2007) 3 4 22 58
  2. A role for the thiol isomerase protein ERP5 in platelet function. (PMID: 15466936) Jordan PA … Gibbins JM (Blood 2005) 3 4 22 58
  3. Functional analysis of human P5, a protein disulfide isomerase homologue. (PMID: 12204115) Kikuchi M … Tsujimoto Y (Journal of biochemistry 2002) 2 3 4 58
  4. Cloning and sequencing of the cDNA encoding human P5. (PMID: 7590364) Hayano T … Kikuchi M (Gene 1995) 2 3 4 58
  5. Platelets release novel thiol isomerase enzymes which are recruited to the cell surface following activation. (PMID: 19995400) Holbrook LM … Gibbins JM (British journal of haematology 2010) 3 22 58

Products for PDIA6 Gene

Sources for PDIA6 Gene

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