STIM1 Gene

Last updated on: 14.04.2022

Dieser Artikel auf Deutsch

Definition
This section has been translated automatically.

The STIM1 gene (STIM1 stands for "Stromal Interaction Molecule 1") is a protein-coding gene located on chromosome 11p15.4. Alternative splicing of this gene results in multiple transcript variants.

The STIM1 gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating store-operated Ca2+ influx channels (SOCs). It is one of several genes located in gene domain of 11p15.5, an important tumor suppressor gene region.

STIM-Orai channels have recently been identified as the underlying molecular mechanism of store-operated calcium entry (SOCE). STIM (stromal interaction molecule) proteins are Ca2+ sensors in the endoplasmic reticulum. Orai proteins are STIM binding partners that form the channel pore.

General information
This section has been translated automatically.

The protein encoded by the STIM1 gene is a protein with a single transmembrane domain that crosses mainly the endoplasmic/sarcoplasmic reticulum but also the cell membrane. Its N-terminus is located in the endoplasmic/sarcoplasmic reticulum, while the C-terminus is located in the cytoplasm. The STIM1 monomer binds Ca2+ with low affinity. Ca2+ consumption leads to unfolding of the STIM1 protein as well as dimerization and multimerization. The C-terminal part of STIM1 consists of three coiled-coil domains CC1, CC2, and CC3, serine/valine (SP) and lysine (K)-rich regions, an inhibitory domain (ID), and a functional TRIP structure. Since the second CC structure has been shown to be the smallest segment with the ability to activate the Orai1 channel, it is also called SOAR (STIM1-ORAI1 Activation Region).

Note(s)
This section has been translated automatically.

Diseases associated with STIM1 include Stormorken syndrome/OMIM: 1850709. Stormorken syndrome is a rare autosomal dominant genetic disorder with a complex phenotype that includes muscle fatigue, bleeding tendency associated with thrombocytopathy or thrombocytopenia, asplenia, miosis, anemia, migraine, dyslexia, ichthyosis , and short stature.

Literature
This section has been translated automatically.

  1. Jiang Li-Jun et al.(2021) Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report. "Frontiers in neurology 12: 522513.
  2. Markello T et al. (2015) York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. Molec Genet Metab 114: 474-482.
  3. Misceo D et al (2014) A dominant STIM1 mutation causes Stormorken syndrome. Hum. Mutat. 35: 556-564.
  4. Mizobuchi M et al (2000) Muscle involvement of Stormorken's syndrome. Rinsho Shinkeigaku 40: 915-920.

Incoming links (2)

PID; Stormorken syndrome;

Last updated on: 14.04.2022