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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Stromal interaction molecule 1
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| http://www.biopax.org/relea... |
STIM1_HUMAN
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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
FUNCTION: Plays a role in mediating 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. SUBUNIT: Forms homooligomers and heterooligomers with STIM2. Interacts with ORAI1. Interacts with MAPRE1; probably required for targeting to the growing microtubule plus ends. Interacts with EFCAB4B/CRACR2A; the interaction is direct and takes place in absence of Ca(2+). Forms a complex with EFCAB4B/CRACR2A and ORAI1 at low concentration of Ca(2+), the complex dissociates at elevated Ca(2+) concentrations. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Cytoplasm, cytoskeleton. Note=Translocates from the endoplasmic reticulum to the cell membrane in response to a depletion of intracellular calcium. Associated with the microtubule network at the growing distal tip of microtubules. TISSUE SPECIFICITY: Ubiquitously expressed in various human primary cells and tumor cell lines. DOMAIN: The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to the growing microtubule plus ends. PTM: Glycosylation is required for cell surface expression. PTM: Phosphorylated predominantly on Ser residues. DISEASE: Defects in STIM1 are the cause of immune dysfunction with T-cell inactivation due to calcium entry defect type 2 (IDTICED2) [MIM:612783]. IDTICED2 is an immune disorder characterized by recurrent infections, impaired T-cell activation and proliferative response, decreased T-cell production of cytokines, lymphadenopathy, and normal lymphocytes counts and serum immunoglobulin levels. Additional features include thrombocytopenia, autoimmune hemolytic anemia, non-progressive myopathy, partial iris hypoplasia, hepatosplenomegaly and defective enamel dentition. MISCELLANEOUS: Transfection of STIM1 into cells derived from a rhabdoid tumor and from a rhabdomyosarcoma that do not express detectable levels of STIM1 can induce cell death, suggesting a possible role in the control of rhabdomyosarcomas and rhabdoid tumors. SIMILARITY: Contains 1 EF-hand domain. SIMILARITY: Contains 1 SAM (sterile alpha motif) domain. GENE SYNONYMS: GOK. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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