Wfs1 wolframin ER transmembrane glycoprotein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Wfs1provided by MGI
Official Full Name: wolframin ER transmembrane glycoproteinprovided by MGI
Primary source: MGI:MGI:1328355
See related: Ensembl:ENSMUSG00000039474 AllianceGenome:MGI:1328355
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: wolframin
Summary: Enables ATPase binding activity. Involved in several processes, including negative regulation of apoptotic process; protein stabilization; and ubiquitin-dependent ERAD pathway. Located in endoplasmic reticulum. Is expressed in several structures, including brain; craniocervical region bone; diaphragm; stomach; and vertebral axis musculature. Used to study Wolfram syndrome 1. Human ortholog(s) of this gene implicated in Wolfram syndrome (multiple); auditory system disease (multiple); cataract 41; diabetes mellitus (multiple); and optic atrophy (multiple). Orthologous to human WFS1 (wolframin ER transmembrane glycoprotein). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in adrenal adult (RPKM 31.3), heart adult (RPKM 27.5) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 B3; 5 19.46 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (37123448..37146326, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (36966104..36988982, complement)

Chromosome 5 - NC_000071.7 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?

Wfs1 loss-of-function disrupts the composition of mouse pancreatic endocrine cells from birth and impairs Glut2 localization to cytomembrane in pancreatic beta cells.
Title: Wfs1 loss-of-function disrupts the composition of mouse pancreatic endocrine cells from birth and impairs Glut2 localization to cytomembrane in pancreatic β cells.
Wfs1[E864K] knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production.
Title: Wfs1(E864K) knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production.
Phosphoproteomics Reveals the Wolframin-Calcium Axis as an Important Pathogenic Signaling Node in Primary Aldosteronism.
Title: Phosphoproteomics Reveals the Wolframin-Calcium Axis as an Important Pathogenic Signaling Node in Primary Aldosteronism.
Loss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells.
Title: Loss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells.
High-fat diet associated sensitization to metabolic stress in Wfs1 heterozygous mice.
Title: High-fat diet associated sensitization to metabolic stress in Wfs1 heterozygous mice.
WFS1 functions in ER export of vesicular cargo proteins in pancreatic beta-cells.
Title: WFS1 functions in ER export of vesicular cargo proteins in pancreatic β-cells.
Wolfram syndrome 1 gene regulates pathways maintaining beta-cell health and survival.
Title: Wolfram syndrome 1 gene regulates pathways maintaining beta-cell health and survival.
the functional link between Wfs1 and D1-like dopamine receptors is evolutionarily conserved and plays an important role in adjusting behavioral reactions to environmental stimuli.
Title: Wfs1 is expressed in dopaminoceptive regions of the amniote brain and modulates levels of D1-like receptors.
Three muscle-specific nuclear membrane proteins, NET39, Tmem38A, and WFS1, direct specific myogenic genes to the nuclear periphery to facilitate their repression during myogenesis.
Title: Tissue-Specific Gene Repositioning by Muscle Nuclear Membrane Proteins Enhances Repression of Critical Developmental Genes during Myogenesis.
WFS1-knockout mice develop a metabolic phenotype characterized with several physiological dysfunctions.
Title: Analysis of metabolic effects of menthol on WFS1-deficient mice.

Submit: New GeneRIF Correction See all GeneRIFs (39)

Variation

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Alleles

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

Targeted (5) 1 citation
Endonuclease-mediated (7)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI481085 (e-PCR)
- UniSTS:163359

D18999 (e-PCR)
- UniSTS:124787

Wfs1 (e-PCR), detects polymorphism
- UniSTS:166298

39.MMHAP34FLE6.seq (e-PCR)
- UniSTS:124319

SHGC-59709 (e-PCR)
- UniSTS:79017

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATPase binding	IDA Inferred from Direct Assay more info	PubMed
enables ATPase binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables calcium-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables calmodulin binding	ISO Inferred from Sequence Orthology more info
enables proteasome binding	ISO Inferred from Sequence Orthology more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ERAD pathway	ISO Inferred from Sequence Orthology more info
involved_in calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in endoplasmic reticulum calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in endoplasmic reticulum unfolded protein response	IBA Inferred from Biological aspect of Ancestor more info
involved_in endoplasmic reticulum unfolded protein response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoplasmic reticulum unfolded protein response	TAS Traceable Author Statement more info	PubMed
involved_in glucose homeostasis	ISO Inferred from Sequence Orthology more info
involved_in kidney development	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ATF6-mediated unfolded protein response	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of programmed cell death	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of response to endoplasmic reticulum stress	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of translation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of translation	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of type B pancreatic cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of type B pancreatic cell apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in nervous system process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of ERAD pathway	IC Inferred by Curator more info	PubMed
involved_in positive regulation of ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ERAD pathway	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein metabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein stabilization	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell cycle	NAS Non-traceable Author Statement more info	PubMed
involved_in renal water homeostasis	ISO Inferred from Sequence Orthology more info
involved_in response to endoplasmic reticulum stress	IDA Inferred from Direct Assay more info	PubMed
involved_in response to endoplasmic reticulum stress	ISO Inferred from Sequence Orthology more info
involved_in sensory perception of sound	ISO Inferred from Sequence Orthology more info
involved_in visual perception	ISO Inferred from Sequence Orthology more info
involved_in visual perception	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation 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
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
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in secretory granule	ISO Inferred from Sequence Orthology more info
is_active_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: wolframin

Names: Wolfram syndrome 1 homolog; Wolfram syndrome 1 protein homolog

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.