Recombinant Human Stromal interaction molecule 1 (STIM1), Truncated

Uniprot Id

Q13586

Target Species

Human

Target Name

STIM1

Target Full Name

Stromal interaction molecule 1

Target 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 ORAI1. Involved in enamel formation. Activated following interaction with STIMATE, leading to promote STIM1 conformational switch.

Target Involvement

Immunodeficiency 10 (IMD10); Myopathy, tubular aggregate, 1 (TAM1); Stormorken syndrome (STRMK)

Target Subcellular Location

Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Cytoplasm, cytoskeleton. Sarcoplasmic reticulum.

Target Tissue Specificity

Ubiquitously expressed in various human primary cells and tumor cell lines.

Target Synonyms

D11S4896E; GOK; OTTHUMP00000164512; OTTHUMP00000229140; OTTHUMP00000230742; SIM; STIM 1; STIM1; Stim1 stromal interaction molecule 1; STIM1_HUMAN; STIM1L; Stromal interaction molecule 1

Target Background

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.