Pdia6 protein disulfide isomerase associated 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pdia6provided by MGI
Official Full Name: protein disulfide isomerase associated 6provided by MGI
Primary source: MGI:MGI:1919103
See related: Ensembl:ENSMUSG00000020571 AllianceGenome:MGI:1919103
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: P5; CaBP5; Txndc7; 1700015E05Rik
Summary: Enables protein-disulfide reductase activity. Involved in negative regulation of IRE1-mediated unfolded protein response. Part of endoplasmic reticulum chaperone complex. Is expressed in embryo; heart; liver; lung epithelium; and pancreas epithelium. Orthologous to human PDIA6 (protein disulfide isomerase family A member 6). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in placenta adult (RPKM 219.9), CNS E11.5 (RPKM 121.2) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 A1.1; 12 8.06 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (17316590..17334786)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (17266589..17284785)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Endoplasmic reticulum protein 5 attenuates platelet endoplasmic reticulum stress and secretion in a mouse model.
Title: Endoplasmic reticulum protein 5 attenuates platelet endoplasmic reticulum stress and secretion in a mouse model.
A point mutation in the Pdia6 gene results in loss of pancreatic beta-cell identity causing overt diabetes.
Title: A point mutation in the Pdia6 gene results in loss of pancreatic β-cell identity causing overt diabetes.
An essential role for PDIA6 in hematopoiesis.
Title: Essential cell-extrinsic requirement for PDIA6 in lymphoid and myeloid development.
one additional protein, namely P58(IPK), specifically precipitated with Akita proinsulin and approximately ten fold more PDIA6, but not other PDI family members, was bound to Akita proinsulin. The latter suggests that PDIA6 may act as a key reductase
Title: A prominent role of PDIA6 in processing of misfolded proinsulin.
these findings demonstrated that ER Ca2+, PDIA6, IRE1alpha, and miR-322 function in a dynamic feedback loop modulating the UPR under conditions of disrupted ER Ca2+ homeostasis.
Title: Interplay between the oxidoreductase PDIA6 and microRNA-322 controls the response to disrupted endoplasmic reticulum calcium homeostasis.
mitochondrial P5 may upregulate tricarboxylic acid cycle and possibly, other intramitochondrial metabolism.
Title: Mitochondrial P5, a member of protein disulphide isomerase family, suppresses oxidative stress-induced cell death.
By facilitating disulfide bond formation, and enhanced ER protein folding, PDIA6 may contribute to the protective effects of ATF6 in the ischemic mouse heart.
Title: Protein disulfide isomerase-associated 6 is an ATF6-inducible ER stress response protein that protects cardiac myocytes from ischemia/reperfusion-mediated cell death.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (5) 1 citation
Gene trapped (1)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12Mit291 (e-PCR), detects polymorphism
- UniSTS:141854

Pdia6 (e-PCR), detects polymorphism
- UniSTS:498514

RH127987 (e-PCR)
- UniSTS:211297

RH126263 (e-PCR)
- UniSTS:162971

RH125410 (e-PCR)
- UniSTS:162232

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein disulfide isomerase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein-disulfide reductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-disulfide reductase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein-disulfide reductase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in negative regulation of IRE1-mediated unfolded protein response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet activation	ISS Inferred from Sequence or Structural Similarity more info
involved_in platelet aggregation	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to endoplasmic reticulum stress	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
part_of endoplasmic reticulum chaperone complex	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum lumen	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum lumen	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum-Golgi intermediate compartment	ISO Inferred from Sequence Orthology more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in melanosome	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in smooth endoplasmic reticulum	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein disulfide-isomerase A6

Names: protein disulfide isomerase-related protein; thioredoxin domain containing 7; thioredoxin domain-containing protein 7

NP_082235.2

EC 5.3.4.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_027959.4 → NP_082235.2 protein disulfide-isomerase A6 precursor

Status: VALIDATED

Source sequence(s)

AC159815

Consensus CDS

CCDS25826.1

UniProtKB/Swiss-Prot

Q8BK54, Q922R8

Related

ENSMUSP00000159304.2, ENSMUST00000239402.2

Conserved Domains (2) summary

cd02983
Location:275 → 404

P5_C; P5 family, C-terminal redox inactive TRX-like domain; P5 is a protein disulfide isomerase (PDI)-related protein with a domain structure of aa'b (where a and a' are redox active TRX domains and b is a redox inactive TRX-like domain). Like PDI, P5 is ...

cd03001
Location:26 → 128

PDI_a_P5; PDIa family, P5 subfamily; composed of eukaryotic proteins similar to human P5, a PDI-related protein with a domain structure of aa'b (where a and a' are redox active TRX domains and b is a redox inactive TRX-like domain). Like PDI, P5 is located in the ...