Aliases for STIM1 Gene
External Ids for STIM1 Gene
Previous GeneCards Identifiers for STIM1 Gene
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. Mutations in this gene are associated with fatal classic Kaposi sarcoma, immunodeficiency due to defects in store-operated calcium entry (SOCE) in fibroblasts, ectodermal dysplasia and tubular aggregate myopathy. 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. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
GeneCards Summary for STIM1 Gene
STIM1 (Stromal Interaction Molecule 1) is a Protein Coding gene. Diseases associated with STIM1 include immunodeficiency 10 and myopathy, tubular aggregate, 1. Among its related pathways are Downstream Signaling Events Of B Cell Receptor (BCR) and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include calcium ion binding and microtubule plus-end binding. An important paralog of this gene is STIM2.
UniProtKB/Swiss-Prot for STIM1 Gene
Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Acts as Ca(2+) sensor in the endoplasmic reticulum via its EF-hand domain. Upon Ca(2+) depletion, translocates from the endoplasmic reticulum to the plasma membrane where it activates the Ca(2+) release-activated Ca(2+) (CRAC) channel subunit, TMEM142A/ORAI1.
STIM-Orai channels have recently been identified as the underlying molecular mechanism of store-operated calcium entry (SOCE). SOCE allows rapid Ca2+ efflux from the endoplasmic reticulum (ER), following the emptying of intracellular Ca2+ stores. STIM (sensors stromal interaction molecule) proteins, STIM1 and STIM2, serve as ER Ca2+ sensors. They contain N'-terminal Ca2+-sensing EF-hand domains and are localized to the tubular ER. Following Ca2+ store depletion, STIMs rapidly cluster and relocalize to the plasma membrane-adjacent ER regions, where they oligomerize and form 'puncta'. Orai proteins, Orai1, Orai2 and Orai3, are STIM binding partners that form the pore of the channel. Orai proteins are uniformly distributed in the plasma membrane and exist as dimers in the resting state. STIM activation induces tetramerization of Orai proteins and subsequent STIM-Orai colocalization, which forms the active store-operated calcium channel.