Human Gene STIM1 (ENST00000527651.5) from GENCODE V44
Description: Homo sapiens stromal interaction molecule 1 (STIM1), transcript variant 3, mRNA. (from RefSeq NM_001277962) RefSeq Summary (NM_001277962): 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]. Gencode Transcript: ENST00000527651.5 Gencode Gene: ENSG00000167323.13 Transcript (Including UTRs) Position: hg38 chr11:3,856,182-4,091,798 Size: 235,617 Total Exon Count: 13 Strand: + Coding Region Position: hg38 chr11:3,856,271-4,091,326 Size: 235,056 Coding Exon Count: 13
ID:STIM1_HUMAN DESCRIPTION: RecName: Full=Stromal interaction molecule 1; Flags: Precursor; FUNCTION: 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. 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. Interacts with TMEM66/SARAF, promoting a slow inactivation of STIM1-dependent SOCE activity, possibly by facilitating the deoligomerization of STIM1. Interacts with ASPH (isoform 8). INTERACTION: Self; NbExp=2; IntAct=EBI-448878, EBI-448878; P62157:CALM (xeno); NbExp=2; IntAct=EBI-448878, EBI-397403; Q9BSW2:EFCAB4B; NbExp=3; IntAct=EBI-448878, EBI-739773; Q96D31:ORAI1; NbExp=11; IntAct=EBI-448878, EBI-2291476; Q9P246:STIM2; NbExp=4; IntAct=EBI-448878, EBI-448891; 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.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q13586
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0002115 store-operated calcium entry GO:0005513 detection of calcium ion GO:0006811 ion transport GO:0006816 calcium ion transport GO:0006874 cellular calcium ion homeostasis GO:0032237 activation of store-operated calcium channel activity GO:0045766 positive regulation of angiogenesis GO:0051924 regulation of calcium ion transport GO:0070166 enamel mineralization GO:1903779 regulation of cardiac conduction GO:2001256 regulation of store-operated calcium entry