STIM1

This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels (SOCs). It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region, as well as early hematopoiesis, by mediating attachment to stromal cells. This gene is oriented in a head-to-tail configuration with the ribonucleotide reductase 1 gene (RRM1), with the 3' end of this gene situated 1.6 kb from the 5' end of the RRM1 gene

stromal interaction molecule 1

Plays a role in mediating store-operated Ca2+ entry (SOCE), a Ca2+ influx following depletion of intracellular Ca2+ stores (PubMed:15866891, PubMed:16005298, PubMed:16208375, PubMed:16537481, PubMed:16733527, PubMed:16766533, PubMed:16807233, PubMed:18854159, PubMed:19249086, PubMed:22464749, PubMed:24069340, PubMed:24351972, PubMed:24591628, PubMed:26322679, PubMed:25326555, PubMed:28219928).
Acts as Ca2+ sensor in the endoplasmic reticulum via its EF-hand domain. Upon Ca2+ depletion, translocates from the endoplasmic reticulum to the plasma membrane where it activates the Ca2+ release-activated Ca2+ (CRAC) channel subunit ORAI1 (PubMed:16208375, PubMed:16537481).
Involved in enamel formation (PubMed:24621671).
Activated following interaction with STIMATE, leading to promote STIM1 conformational switch (PubMed:26322679).

Biological Process activation of store-operated calcium channel activityManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process cellular calcium ion homeostasisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process detection of calcium ionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process enamel mineralizationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of adenylate cyclase activityManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of angiogenesisManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process regulation of calcium ion transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process regulation of store-operated calcium entryManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process store-operated calcium entryManual Assertion Based On ExperimentIDA:UniProtKB

Cell membrane
Endoplasmic reticulum membrane
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 (PubMed:19249086, PubMed:16005298, PubMed:16208375, PubMed:18854159).
Associated with the microtubule network at the growing distal tip of microtubules (PubMed:19632184).
Colocalizes with ORAI1 at the cell membrane (PubMed:27185316).
Colocalizes preferentially with CASQ1 at endoplasmic reticulum in response to a depletion of intracellular calcium (PubMed:27185316).

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.
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.
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.

Extracellular: 23-213
Helical: 214-234
Cytoplasmic: 235-685

Glycosylation is required for cell surface expression.
Phosphorylated predominantly on Ser residues.