InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: STIM1

Summary

InnateDB Protein

IDBP-24707.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

STIM1

Protein Name

stromal interaction molecule 1

Synonyms

D11S4896E; GOK; IMD10; STRMK; TAM; TAM1;

Species

Homo sapiens

Ensembl Protein

ENSP00000300737

InnateDB Gene

IDBG-24705 (STIM1)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:15866891, ECO:0000269PubMed:16005298, ECO:0000269PubMed:16208375, ECO:0000269PubMed:16537481, ECO:0000269PubMed:16733527, ECO:0000269PubMed:16766533, ECO:0000269PubMed:16807233, ECO:0000269PubMed:18854159, ECO:0000269PubMed:19249086, ECO:0000269PubMed:22464749, ECO:0000269PubMed:24069340, ECO:0000269PubMed:24351972}.

Subcellular Localization

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 and is detected at punctae corresponding to junctions between the endoplasmic reticulum and the cell membrane. Associated with the microtubule network at the growing distal tip of microtubules.

Disease Associations

Immunodeficiency 10 (IMD10) [MIM:612783]: An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, lymphadenopathy, and normal lymphocytes counts and serum immunoglobulin levels. Additional features include thrombocytopenia, autoimmune hemolytic anemia, myopathy, partial iris hypoplasia, hepatosplenomegaly and defective enamel dentition. {ECO:0000269PubMed:19420366, ECO:0000269PubMed:22190180}. Note=The disease is caused by mutations affecting the gene represented in this entry.Myopathy, tubular aggregate (TAM) [MIM:160565]: A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They may occur in a variety of circumstances, including inherited myopathies, alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness. {ECO:0000269PubMed:23332920}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed in various human primary cells and tumor cell lines. {ECO:0000269PubMed:11004585, ECO:0000269PubMed:11463338}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 27 experimentally validated interaction(s) in this database.

Experimentally validated
Total	27 [view]
Protein-Protein	26 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0042802	identical protein binding
GO:0051010	microtubule plus-end binding

Biological Process

GO:0005513	detection of calcium ion
GO:0007596	blood coagulation
GO:0032237	activation of store-operated calcium channel activity
GO:0045087	innate immune response (InnateDB)
GO:0051924	regulation of calcium ion transport

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0005874	microtubule
GO:0005887	integral component of plasma membrane
GO:0030176	integral component of endoplasmic reticulum membrane
GO:0032541	cortical endoplasmic reticulum

Protein Structure and Domains

PDB ID

InterPro

IPR001660 Sterile alpha motif domain
IPR011510 Sterile alpha motif, type 2
IPR013761 Sterile alpha motif/pointed domain
IPR021129 Sterile alpha motif, type 1

PFAM

PF07647
PF00536

PRINTS

PIRSF

SMART

SM00454

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q13586