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STIM1 (NM_001277962) - stromal interaction molecule 1

Stromal Interaction Molecule 1 Isoform 3 Precursor

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of STIM1 protein. View all 3 isoforms
STIM1: stromal interaction molecule 1 isoform 3 precursor
Description:

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
540 residues
All mutations
123
PTM sites
19
CDS
3,877,500 - 4,112,556
Transcription
3,876,932 - 4,114,440
32.78% of sequence is predicted to be disordered

Usage summary

Network

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PTM site

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 6786
UniProt
Ensembl