STIM1

Chr 11p15.4

stromal interaction molecule 1

Aliases:: GOK, D11S4896E
MANE:: ENST00000526596.2

OMIM: 605921 ↗NCBI: 6786 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

STIM1 · Q13586

v62025-08-01

Predicted Aligned Error matrix for STIM1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.8/ 100

Low

685 residues

Confidence breakdown

Very high(≥ 90)22%
Confident(70–90)34%
Low(50–70)10%
Very low(< 50)34%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Amelogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and platelet disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Inherited bleeding disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

myopathy, tubular aggregate, 1
0.78
combined immunodeficiency due to STIM1 deficiency
0.78
Stormorken syndrome
0.76
tubular aggregate myopathy
0.72
Stormorken-Sjaastad-Langslet syndrome
0.62
combined immunodeficiency due to CRAC channel dysfunction
0.60
severe combined immunodeficiency
0.47
combined immunodeficiency
0.46
T-B- severe combined immunodeficiency
0.46
T-B+ severe combined immunodeficiency
0.46

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Stromal interaction molecule 1

Acts as a Ca(2+) sensor that gates two major inward rectifying Ca(2+) channels at the plasma membrane: Ca(2+) release-activated Ca(2+) (CRAC) channels and arachidonate-regulated Ca(2+)-selective (ARC) channels (PubMed:15866891, PubMed:16005298, PubMed:16208375, PubMed:16537481, PubMed:16733527, PubMed:16766533, PubMed:16807233, PubMed:18854159, PubMed:19182790, PubMed:19249086, PubMed:19622606, PubMed:19706554, PubMed:22464749, PubMed:24069340, PubMed:24351972, PubMed:24591628, PubMed:25326555, PubMed:26322679, PubMed:28219928, PubMed:32415068). Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Upon Ca(2+) depletion, translocates from the endoplasmic reticulum to the plasma membrane where it activates CRAC channel pore-forming subunits ORA1, ORA2 and ORAI3 to generate sustained and oscillatory Ca(2+) entry (PubMed:16208375, PubMed:16537481, PubMed:32415068). Involved in enamel formation (PubMed:24621671). Plays a role in regulating the type I interferon response by retaining the signaling adapter STING at the endoplasmic reticulum (PubMed:30643259)