Species

Mus musculus

Symbol

Stim1

Name

stromal interaction molecule 1

Synonyms

SIM

Biotype

protein coding gene

Automated Description

Enables channel regulator activity and identical protein binding activity. Involved in G protein-coupled receptor signaling pathway; ligand-gated ion channel signaling pathway; and positive regulation of insulin secretion. Acts upstream of or within establishment of localization in cell; myotube differentiation; and store-operated calcium entry. Located in endoplasmic reticulum. Is active in plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; gonad; hemolymphoid system gland; and musculature. Used to study Stormorken syndrome and tubular aggregate myopathy 1. Human ortholog(s) of this gene implicated in Stormorken syndrome; gastrointestinal system cancer (multiple); immunodeficiency 10; lung cancer; and tubular aggregate myopathy 1. Orthologous to human STIM1 (stromal interaction molecule 1).

MGI Description

PHENOTYPE: Mice homozygous for a null allele exhibit perinatal and postnatal lethality, with all mice dying by 2 weeks of age, and severe growth retardation. Heterozygosity for the p.R304W mutation reduces embryonic survival and adult longevity, affects muscle morphology and physiology, bone morphology, liver physiology, hematopoiesis, and immune cell development. It leads to reduced body size and weight, muscle weakness, bone weakness, bleeding disorder, skin abnormalities, and altered liver and blood chemistry. [provided by MGI curators]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR15136

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

Function - GO Annotations

Show functions with at least one experimental evidence

Pathways

No data available

Phenotypes

Primary Sources

MGI

Other Sources

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Disease Associations

Include negative annotationsCases where the expected disease association was NOT found

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Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
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Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
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Models

Model name	Experimental condition	Associated Human Diseases	Associated Phenotypes	Modifier	Source
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Sequence Feature Viewer

Genome location

Chr7:101917013...102086526 + (169.51 kb)

Assembly version

GRCm39

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Data currently unavailable; sequence viewer under construction

Sequence Details

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Expression

Primary Sources

Other Sources

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Stim1 molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
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Genetic Interactions

Stim1 role	Stim1 genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
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