STIM1GOK

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. 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. Involved in enamel formation. Plays a role in regulating the type I interferon response by retaining the signaling adapter STING at the endoplasmic reticulum

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Monomer in the presence of Ca(2+); it oligomerizes in absence of Ca(2+). Forms homooligomers and heterooligomers with STIM2. Interacts with pore-forming subunits of CRAC channels, ORAI1, ORAI2 and ORAI3; this interaction is potentiated upon Ca(2+) store depletion. Interacts (via the transmembrane region and the SOAR/CAD domain) with SPPL3; the interaction promotes the binding of STIM1 to ORAI1. Interacts (via the SOAR/CAD domain) with ORAI1. Interacts with MAPRE1; probably required for targeting to the growing microtubule plus ends. Interacts with CRACR2A/EFCAB4B; the interaction is direct and takes place in absence of Ca(2+). Forms a complex with CRACR2A/EFCAB4B and ORAI1 at low concentration of Ca(2+), the complex dissociates at elevated Ca(2+) concentrations. Interacts with SARAF, promoting a slow inactivation of STIM1-dependent SOCE activity, possibly by facilitating the deoligomerization of STIM1. Interacts with EFHB; the interaction takes place upon Ca(2+)-store depletion and inhibits the association with SARAF. Interacts with ASPH (isoform 8). Interacts with SLC35G1; intracellular Ca(2+)-dependent. May interact with ATP1A1, ATP2A2, ATP2B1, ATP2B4, KPNB1 and XPO1; through SLC35G1. Interacts with TMEM203. Interacts with STIMATE, promoting STIM1 conformational switch. Interacts with TMEM178A (By similarity). Interacts with CASQ1 (via C-terminal end and preferentially with the monomeric form); this interaction increases in response to a depletion of intracellular Ca(2+), decreases both STIM1 aggregation and clustering, interaction of STIM1 with ORAI1 and store-operated Ca(2+) entry (SOCE) activity. Interacts with ADCY8. Interacts with STING1; this interaction retains STING1 in the endoplasmic reticulum membrane

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(Microbial infection) Interacts with vaccinia virus protein OPG147; this interaction inhibits dissociation of STING1 from STIM1 following cGAMP stimulation

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Cell membrane / Single-pass type I membrane protein; Endoplasmic reticulum membrane / Single-pass type I membrane protein; Cytoplasm, cytoskeleton; Sarcoplasmic reticulum; Translocates from the endoplasmic reticulum to the cell membrane in response to a depletion of intracellular calcium and is detected at punctae corresponding to junctions between the endoplasmic reticulum and the cell membrane. Associated with the microtubule network at the growing distal tip of microtubules. Colocalizes with ORAI1 at the cell membrane. Colocalizes preferentially with CASQ1 at endoplasmic reticulum in response to a depletion of intracellular calcium

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Immunodeficiency 10 IMD10 An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, lymphadenopathy, and normal lymphocytes counts and serum immunoglobulin levels. Additional features include thrombocytopenia, autoimmune hemolytic anemia, myopathy, partial iris hypoplasia, hepatosplenomegaly and defective enamel dentition. The disease is caused by variants affecting the gene represented in this entry MIM: 612783

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Myopathy, tubular aggregate, 1 TAM1 A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They may occur in a variety of circumstances, including inherited myopathies, alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness. The disease is caused by variants affecting the gene represented in this entry MIM: 160565

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Stormorken syndrome STRMK A rare autosomal dominant disease characterized by mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. The disease is caused by variants affecting the gene represented in this entry MIM: 185070

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