Kdelr1 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kdelr1provided by MGI
Official Full Name: KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1provided by MGI
Primary source: MGI:MGI:1915387
See related: Ensembl:ENSMUSG00000002778 AllianceGenome:MGI:1915387
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Erd2.1; 8030486F04Rik
Summary: Predicted to enable KDEL sequence binding activity. Acts upstream of or within T cell apoptotic process and T cell differentiation. Located in cis-Golgi network and endoplasmic reticulum. Is expressed in several structures, including central nervous system; genitourinary system; and retina. Orthologous to human KDELR1 (KDEL endoplasmic reticulum protein retention receptor 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in duodenum adult (RPKM 127.7), large intestine adult (RPKM 106.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B3; 7 29.57 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (45522264..45533150)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (45872840..45883726)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

In a mouse line having nonfunctional KDELR1, polyclonal naive T cells show excessive integrated stress responses, which are rescued by strong TCR-mediated signaling
Title: Strong TCR-mediated signals suppress integrated stress responses induced by KDELR1 deficiency in naive T cells.
regulates naive T-cell homeostasis by controlling integrated stress responses
Title: KDEL receptor 1 regulates T-cell homeostasis via PP1 that is a key phosphatase for ISR.
present a recessive mouse missense allele of the prototypical mammalian KDEL receptor, KDEL ER protein retention receptor 1 (KDELR1). Kdelr1 homozygous mutants were mildly lymphopenic, as were mice with a CRISPR/Cas9-engineered frameshift allele
Title: Mutation of the ER retention receptor KDELR1 leads to cell-intrinsic lymphopenia and a failure to control chronic viral infection.
dilated cardiomyopathy found in the mutant KDEL receptor transgenic mice is associated with ER stress
Title: Dilated cardiomyopathy caused by aberrant endoplasmic reticulum quality control in mutant KDEL receptor transgenic mice.

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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 (1) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_2641-2642:991932951:1 (e-PCR)
- UniSTS:230927

D11Bhm20 (e-PCR), detects polymorphism
- UniSTS:141619

AW215843 (e-PCR)
- UniSTS:179574

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ER retention sequence binding	IBA Inferred from Biological aspect of Ancestor more info
enables KDEL sequence binding	ISO Inferred from Sequence Orthology more info
enables KDEL sequence binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within T cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within T cell cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein retention in ER lumen	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein retention in ER lumen	IEA Inferred from Electronic Annotation more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in COPI-coated vesicle membrane	IEA Inferred from Electronic Annotation more info
colocalizes_with COPI-coated vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cis-Golgi network	IBA Inferred from Biological aspect of Ancestor more info
located_in cis-Golgi network	IDA Inferred from Direct Assay more info	PubMed
located_in cis-Golgi network	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum-Golgi intermediate compartment	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ER lumen protein-retaining receptor 1

Names: KDEL endoplasmic reticulum protein retention receptor 1; KDEL receptor 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.