Erp44 endoplasmic reticulum protein 44 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Erp44provided by MGI
Official Full Name: endoplasmic reticulum protein 44provided by MGI
Primary source: MGI:MGI:1923549
See related: Ensembl:ENSMUSG00000028343 AllianceGenome:MGI:1923549
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: Txndc4; 1110001E24Rik
Summary: Predicted to enable protein disulfide isomerase activity. Predicted to be involved in glycoprotein metabolic process; protein folding; and response to endoplasmic reticulum stress. Predicted to act upstream of or within response to unfolded protein. Located in cell surface. Is expressed in jaw and orbito-sphenoid. Orthologous to human ERP44 (endoplasmic reticulum protein 44). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta adult (RPKM 31.9), adrenal adult (RPKM 18.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 B1; 4 26.09 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (48190711..48279635, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (48190711..48279635, complement)

Chromosome 4 - NC_000070.7 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?

ERp44 is required for endocardial cushion development by regulating VEGFA secretion in myocardium.
Title: ERp44 is required for endocardial cushion development by regulating VEGFA secretion in myocardium.
ERp44(-/-) newborns had lower blood glucose compared to wild-type
Title: The role of ERp44 in glucose and lipid metabolism.
The role of ERp44 in the dysfunction of endoplasmic reticulum in diabetic nephropathy.
Title: ERp44 depletion exacerbates ER stress and aggravates diabetic nephropathy in db/db mice.
ERp44 plays a critical role in embryonic heart development and is crucial in regulating cardiac cell Ca(2+) signaling, ER stress, ROS-induced oxidative stress, and activation of the intrinsic mitochondrial apoptosis pathway.
Title: Endoplasmic reticulum resident protein 44 (ERp44) deficiency in mice and zebrafish leads to cardiac developmental and functional defects.
ERp44 exclusively recognizes and converts assembly-trapped adiponectin intermediates back to precursors of the biologically potent high molecular weight form.
Title: Regulation and Quality Control of Adiponectin Assembly by Endoplasmic Reticulum Chaperone ERp44.
Data show that endoplasmic reticulum protein 44 (ERp44) forms a mixed disulfide bond with aminopeptidase ERAP1 and controls the release of ERAP1 in a redox-dependent manner to control blood pressure.
Title: ERp44 Exerts Redox-Dependent Control of Blood Pressure at the ER.
Data suggest that ERp44 and Ero1-lalpha play a major role in the assembly of higher-order adiponectin complexes, and highlight the importance of posttranslational events controlling adiponectin levels and the release of adiponectin from adipocytes.
Title: Secretion of the adipocyte-specific secretory protein adiponectin critically depends on thiol-mediated protein retention.

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Variation

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Alleles

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

Gene trapped (1)
Targeted (3) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH143564 (e-PCR)
- UniSTS:232810

RH129120 (e-PCR)
- UniSTS:212428

AI849526 (e-PCR)
- UniSTS:185584

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein disulfide isomerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein disulfide isomerase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in glycoprotein metabolic process	ISO Inferred from Sequence Orthology more info
involved_in protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein folding	ISO Inferred from Sequence Orthology more info
involved_in response to endoplasmic reticulum stress	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to unfolded protein	ISO Inferred from Sequence Orthology more info	PubMed
involved_in response to unfolded protein	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum lumen	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum-Golgi intermediate compartment	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum-Golgi intermediate compartment	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: endoplasmic reticulum resident protein 44

Names: ER protein 44; endoplasmic reticulum resident protein 44kDa; endoplasmic reticulum resident protein ERp44; thioredoxin domain containing 4 (endoplasmic reticulum); thioredoxin domain-containing protein 4

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_001355184.1 → NP_001342113.1 endoplasmic reticulum resident protein 44 isoform 2

Status: VALIDATED

Source sequence(s)

AA000229, AA434854, AK003217, AK141377, AL844861, BP759191, BY091518

Conserved Domains (3) summary

cd03070
Location:52 → 142

PDI_b_ERp44; PDIb family, ERp44 subfamily, first redox inactive TRX-like domain b; ERp44 is an endoplasmic reticulum (ER)-resident protein, induced during stress, involved in thiol-mediated ER retention. It contains an N-terminal TRX domain with a CXFS motif followed ...

cd03072
Location:153 → 263

PDI_b'_ERp44; PDIb' family, ERp44 subfamily, second redox inactive TRX-like domain b'; ERp44 is an endoplasmic reticulum (ER)-resident protein, induced during stress, involved in thiol-mediated ER retention. It contains an N-terminal TRX domain with a CXFS motif ...

cl00388
Location:4 → 44

Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
NM_029572.3 → NP_083848.1 endoplasmic reticulum resident protein 44 isoform 1 precursor

See identical proteins and their annotated locations for NP_083848.1

Status: VALIDATED

Source sequence(s)

AA000229, AA434854, AK003217, AK141377, AK151497, AL844861, BP759191

Consensus CDS

CCDS18165.1

UniProtKB/Swiss-Prot

Q3TVI1, Q6A045, Q9D1Q6

UniProtKB/TrEMBL

Q3URM4

Related

ENSMUSP00000030028.5, ENSMUST00000030028.5

Conserved Domains (3) summary

cd02996
Location:29 → 136

PDI_a_ERp44; PDIa family, endoplasmic reticulum protein 44 (ERp44) subfamily; ERp44 is an ER-resident protein, induced during stress, involved in thiol-mediated ER retention. It contains an N-terminal TRX domain, similar to that of PDIa, with a CXFS motif followed by ...

cd03070
Location:144 → 234

PDI_b_ERp44; PDIb family, ERp44 subfamily, first redox inactive TRX-like domain b; ERp44 is an endoplasmic reticulum (ER)-resident protein, induced during stress, involved in thiol-mediated ER retention. It contains an N-terminal TRX domain with a CXFS motif followed ...

cd03072
Location:245 → 355

PDI_b'_ERp44; PDIb' family, ERp44 subfamily, second redox inactive TRX-like domain b'; ERp44 is an endoplasmic reticulum (ER)-resident protein, induced during stress, involved in thiol-mediated ER retention. It contains an N-terminal TRX domain with a CXFS motif ...