STIM1 (NM_001277961) - stromal interaction molecule 1
Stromal Interaction Molecule 1 Isoform 1 Precursor
Legend
Protein
Kinases
Sites
Color corresponds to (the most severe) impact of mutations on given site:
Interactions
If you have any questions or feedback about this protein:
Contact us
PTM Interaction Network Visualisation
Protein summary
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].
- Strand
- +
- Chromosome
- 11
- Protein
- 791 residues
- All mutations
- 182
- PTM sites
- 42
- CDS
- 3,877,500 - 4,113,028
- Transcription
- 3,876,932 - 4,114,440
Usage summary
Network
PTM site
Kinases group
|
Kinase, PTM site or protein
|