STIM1: Stromal Interaction Molecule 1
Key Regulator of Store-Operated Calcium Entry (SOCE)
Gene Information Card
| Symbol | STIM1 |
|---|---|
| Full Name | Stromal Interaction Molecule 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 6786 ncbi.nlm.nih.gov/gene/6786 |
| Ensembl ID | ENSG00000167323 |
| UniProt ID | Q13586 |
| OMIM ID | 605921 |
| HGNC ID | 11386 |
| Aliases | GOK, STRMK, FLJ10728, DKFZp686D1550 |
Description
STIM1 (Stromal Interaction Molecule 1) encodes a single-pass transmembrane protein that functions as a calcium sensor in the endoplasmic reticulum. Upon depletion of ER calcium stores, STIM1 oligomerizes and translocates to ER-plasma membrane junctions to activate ORAI1 channels, initiating store-operated calcium entry (SOCE). This process is critical for immune cell activation, muscle contraction, and cellular signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tubular Aggregate Myopathy (TAM) | Gain-of-function mutations in STIM1 lead to constitutive SOCE, causing calcium overload and muscle fiber degeneration. | OMIM #615883 |
| Stormorken Syndrome | Same gain-of-function mechanism as TAM; includes thrombocytopenia, miosis, and ichthyosis. | OMIM #185070 |
| Combined Immunodeficiency (CID) | Loss-of-function mutations impair SOCE in T cells, leading to defective immune responses. | OMIM #612783 |
| Kaposi Sarcoma | STIM1 overexpression may promote angiogenesis and tumor growth. | COSMIC; NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 12.8 | High |
| Heart | 8.5 | Medium |
| Brain | 6.2 | Medium |
| Lung | 4.1 | Low |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression; commonly used for SOCE studies |
| Jurkat T cells | 9.8 | Moderate; key for immune function |
| HeLa | 7.5 | Moderate |
| K562 | 3.2 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.910C>T (p.Arg304Trp) | Missense | <0.01% | Gain-of-function; associated with TAM/Stormorken |
| c.1538_1539del (p.Glu513Valfs*15) | Frameshift | Rare | Loss-of-function; causes CID |
| c.343A>G (p.Thr115Ala) | Missense | <0.01% | Gain-of-function; mild myopathy |
Mutation functional classification
Loss of Function (LOF)
Impaired SOCE leads to immunodeficiency, recurrent infections, and defective T-cell activation.
Gain of Function (GOF)
Constitutive SOCE causes calcium overload, resulting in tubular aggregate myopathy, thrombocytopenia, and miosis.
Dominant Negative (DN)
Not well documented for STIM1; most mutations are either LoF or GoF.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005246 - calcium channel regulator activity | • GO:0005783 - endoplasmic reticulum |
| • GO:0030315 - T-tubule | • GO:0051209 - release of sequestered calcium ion into cytosol |
| • GO:0002116 - store-operated calcium entry |
Pathways
• Store-operated calcium entry (SOCE) pathway
• Calcium signaling pathway (KEGG: hsa04020)
• NFAT activation pathway
Protein Summary
STIM1 is a 685-amino acid protein with an N-terminal EF-hand domain that senses ER calcium levels. Upon calcium depletion, it undergoes conformational changes, oligomerizes, and interacts with ORAI1 at the plasma membrane to mediate calcium influx. It is essential for immune synapse formation, muscle excitation-contraction coupling, and platelet activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STIM1 Knockout HEK293 Cell Line | EDC09869 | Human | 6786 | Details Get a Quote |
| STIM1 Knockout A-549 Cell Line | EDJ-KQ21240 | Human | 6786 | Details Get a Quote |
| STIM1 Knockout HCT 116 Cell Line | EDJ-KQ21241 | Human | 6786 | Details Get a Quote |
| STIM1 Knockout HeLa Cell Line | EDJ-KQ21242 | Human | 6786 | Details Get a Quote |
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