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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 Family A, Member 6 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
  • EC 5.3.4.1 4 63
  • TXNDC7 3 4
  • ERP5 3 4
  • P5 3 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

  • Protein disulfide isomerases (EC 5.3.4.1), such as PDIA6, are endoplasmic reticulum (ER) resident proteins that catalyze formation, reduction, and isomerization of disulfide bonds in proteins and are thought to play a role in folding of disulfide-bonded proteins (Hayano and Kikuchi, 1995 [PubMed 7590364]).[supplied by OMIM, Mar 2008]

GeneCards Summary for PDIA6 Gene

PDIA6 (Protein Disulfide Isomerase Family A Member 6) is a Protein Coding gene. Among its related pathways are Transport to the Golgi and subsequent modification and Unfolded Protein Response (UPR). GO annotations related to this gene include isomerase activity and protein disulfide isomerase activity. An important paralog of this gene is TMX3.

UniProtKB/Swiss-Prot for PDIA6 Gene

  • May function as a chaperone that inhibits aggregation of misfolded proteins. Plays a role in platelet aggregation and activation by agonists such as convulxin, collagen and thrombin.

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

Genomics for PDIA6 Gene

Regulatory Elements for PDIA6 Gene

Genomic Location for PDIA6 Gene

Chromosome:
2
Start:
10,783,391 bp from pter
End:
10,837,977 bp from pter
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. Interacts with MICA on the surface of tumor cells, leading to MICA disulfide bond reduction which is required for its release from tumor cells. Interacts with ITGB3 following platelet stimulation.

    Three dimensional structures from OCA and Proteopedia for PDIA6 Gene

    Alternative splice isoforms for PDIA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDIA6 Gene

Proteomics data for PDIA6 Gene at MOPED

Post-translational modifications for PDIA6 Gene

  • Ubiquitination at Lys 108, Lys 216, Lys 241, Lys 245, and Lys 368
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for PDIA6 Gene

Gene Families for PDIA6 Gene

Suggested Antigen Peptide Sequences for PDIA6 Gene

Graphical View of Domain Structure for InterPro Entry

Q15084

UniProtKB/Swiss-Prot:

PDIA6_HUMAN :
  • Contains 2 thioredoxin domains.
  • Belongs to the protein disulfide isomerase family.
Domain:
  • Contains 2 thioredoxin domains.
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 CatalyticActivity:
Catalyzes the rearrangement of -S-S- bonds in proteins.
UniProtKB/Swiss-Prot Function:
May function as a chaperone that inhibits aggregation of misfolded proteins. Plays a role in platelet aggregation and activation by agonists such as convulxin, collagen and thrombin.

Enzyme Numbers (IUBMB) for PDIA6 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for PDIA6

CRISPR Products

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for PDIA6 Gene COMPARTMENTS Subcellular localization image for PDIA6 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
plasma membrane 3
cytosol 2
golgi apparatus 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PDIA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005788 endoplasmic reticulum lumen IEA --
GO:0034663 endoplasmic reticulum chaperone complex ISS --
GO:0042470 melanosome IEA --
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

Gene Ontology (GO) - Biological Process for PDIA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030968 endoplasmic reticulum unfolded protein response TAS --
GO:0034976 response to endoplasmic reticulum stress IBA --
GO:0045454 cell redox homeostasis IEA --
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:

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 for PDIA6 Gene

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



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).
genes like me logo Genes that share expression patterns with PDIA6: view

Protein tissue co-expression partners for PDIA6 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia PDIA6 35
  • 88.79 (n)
  • 95.68 (a)
PDIA6 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDIA6 35
  • 88.33 (n)
  • 94.55 (a)
-- 36
  • 95 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Pdia6 35
  • 87.05 (n)
  • 95.23 (a)
Pdia6 16
Pdia6 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PDIA6 35
  • 99.62 (n)
  • 99.77 (a)
PDIA6 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdia6 35
  • 86.89 (n)
  • 94.77 (a)
oppossum
(Monodelphis domestica)
Mammalia PDIA6 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDIA6 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDIA6 35
  • 77.5 (n)
  • 86.96 (a)
PDIA6 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDIA6 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdia6 35
  • 73.64 (n)
  • 81.59 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
pdip5 35
  • 72.48 (n)
  • 76.38 (a)
pdip5 36
  • 77 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10220 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001919 35
  • 60 (n)
  • 61.4 (a)
fruit fly
(Drosophila melanogaster)
Insecta CaBP1 35
  • 59.74 (n)
  • 61.59 (a)
CaBP1 36
  • 60 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tag-320 35
  • 59.66 (n)
  • 56.31 (a)
pdi-6 36
  • 55 (a)
OneToMany
Y49E10.4 36
  • 44 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MPD1 36
  • 27 (a)
OneToMany
MPD1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons PDIL2-2 35
  • 52.9 (n)
  • 46.86 (a)
rice
(Oryza sativa)
Liliopsida Os09g0451500 35
  • 51.18 (n)
  • 47.39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToMany
-- 36
  • 44 (a)
OneToMany
Species with no ortholog for PDIA6:
  • 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)

Paralogs for PDIA6 Gene

Paralogs for PDIA6 Gene

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

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 Sequence Context AA Info Type
rs4807 - 10,790,777(-) AGGAA(A/G)AGTGA reference, missense
rs4758 -- 10,802,561(-) CCATC(A/G)AATTT reference, synonymous-codon
rs4799 -- 10,793,123(-) GGACG(A/G)AGCGG reference, synonymous-codon
rs923453 -- 10,833,102(-) GGATG(C/T)TTTCT intron-variant, upstream-variant-2KB
rs923454 -- 10,832,915(-) GGGTG(A/G)GACCA intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv508074 CNV Loss 20534489

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)

Relevant External Links for PDIA6 Gene

HapMap Linkage Disequilibrium report
PDIA6

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

Disorders for PDIA6 Gene

Relevant External Links for PDIA6

Genetic Association Database (GAD)
PDIA6
Human Genome Epidemiology (HuGE) Navigator
PDIA6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDIA6

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. Functional analysis of human P5, a protein disulfide isomerase homologue. (PMID: 12204115) Kikuchi M. … Tsujimoto Y. (J. Biochem. 2002) 2 3 4 67
  2. Protein disulphide isomerase family members show distinct substrate specificity: P5 is targeted to BiP client proteins. (PMID: 19887585) Jessop C.E. … Bulleid N.J. (J. Cell. Sci. 2009) 3 23
  3. Disulphide-isomerase-enabled shedding of tumour-associated NKG2D ligands. (PMID: 17495932) Kaiser B.K. … Spies T. (Nature 2007) 3 23
  4. A role for the thiol isomerase protein ERP5 in platelet function. (PMID: 15466936) Jordan P.A. … Gibbins J.M. (Blood 2005) 3 23
  5. Cloning and sequencing of the cDNA encoding human P5. (PMID: 7590364) Hayano T. … Kikuchi M. (Gene 1995) 2 3

Products for PDIA6 Gene

Sources for PDIA6 Gene

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