The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to the growing microtubule plus ends.
The EF-hand domain is responsible for Ca(2+) sensitivity. It consists of a canonical helix-loop-helix EF motif (alpha1beta1alpha2; EF-hand 1) paired to a second helix-loop-helix EF motif (alpha3beta2alpha4; EF-hand 2). EF-hand 1 binds Ca(2+) whereas EF-hand 2 mediates the interactions with SAM domain.
The sterile alpha motif (SAM) domain folds into a characteristic 5-helix bundle (alpha6-alpha10) which interacts with the EF-hand pairs enabling concerted folding and stability of EF-hand and SAM domains.
The STIM1 Orai-activating region/CRAC-activating domain (SOAR/CAD) directly interacts with ORAI1 subunits and mediates CRAC channel gating.
The polybasic Lys-rich region (residues 672-685) functionally interacts with the Pro-rich region of ORAI1 (residues 3-47) and regulates CRAC channel gating at negative membrane potentials.
Acts as a Ca(2+) sensor that gates two major inward rectifying Ca(2+) channels at the plasma membrane: Ca(2+) release-activated Ca(2+) (CRAC) channels and arachidonate-regulated Ca(2+)-selective (ARC) channels (PubMed:15866891, PubMed:16005298, PubMed:16208375, PubMed:16537481, PubMed:16733527, PubMed:16766533, PubMed:16807233, PubMed:18854159, PubMed:19182790, PubMed:19249086, PubMed:19622606, PubMed:19706554, PubMed:22464749, PubMed:24069340, PubMed:24351972, PubMed:24591628, PubMed:25326555, PubMed:26322679, PubMed:28219928, PubMed:32415068). Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Upon Ca(2+) depletion, translocates from the endoplasmic reticulum to the plasma membrane where it activates CRAC channel pore-forming subunits ORA1, ORA2 and ORAI3 to generate sustained and oscillatory Ca(2+) entry (PubMed:16208375, PubMed:16537481, PubMed:32415068). Involved in enamel formation (PubMed:24621671).
Immunodeficiency 10
IMD10
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Myopathy, tubular aggregate, 1
TAM1
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Stormorken syndrome
STRMK
A rare autosomal dominant disease characterized by mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis.
None
The disease is caused by variants affecting the gene represented in this entry.
Glycosylation is required for cell surface expression.
Phosphorylated predominantly on Ser residues.
Ubiquitously expressed in various human primary cells and tumor cell lines.
GOK, STIM1, Stromal interaction molecule 1
Proteins
Neuroscience
77423Da
We found 13 products in 2 categories
ab239938
Anti-Stromal interaction molecule 1 antibody [EPR3414] - BSA and Azide free