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The gene on chromosome 11p15.5 that encodes stromal interaction molecule 1 (OMIM: 605921, UniProtKB: Q13586), a type 1 transmembrane protein which mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels. STIM1may play a role in cancer and other diseases involving chromosome region 11p15.5, as well as early haematopoiesis by mediating attachment to stromal cells
Molecular pathology Defects of STIM1 cause:
• Immunodeficiency 10 (OMIM:612783)
• Myopathy—tubular aggregate—1 (OMIM:160565)
• Stormorken syndrome (OMIM:185070)
Alterations in the chromosome region 11p15.5 are associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancers.
Synonyms GOK, IMD10, TAM, D11S4896E