TMEM33

Description

The TMEM33 (transmembrane protein 33) is a protein-coding gene located on chromosome 4.

TMEM33 is a human gene located on chromosome 4. It encodes the Transmembrane protein 33, also known as DB83 or SHINC3. The protein is expressed ubiquitously, with high levels in blood, lymph nodes, bone, and adipose tissue. The TMEM33 gene spans 18.7 kb and has a promoter sequence that overlaps with the 5' untranslated region, first coding exon, and first intron. This promoter sequence binds to various transcription factors, particularly those expressed in connective tissue.

TMEM33 acts as a regulator of the tubular endoplasmic reticulum (ER) network by modulating intracellular calcium homeostasis. It stimulates PKD2 calcium-dependent activity, suppresses the RTN3/4-induced formation of ER tubules, and positively regulates PERK-mediated and IRE1-mediated unfolded protein response signaling. TMEM33 plays an essential role in VEGF-mediated release of Ca(2+) from ER stores during angiogenesis. It also modulates innate immune signaling through the cGAS-STING pathway by interacting with RNF26. TMEM33 participates in lipid metabolism by acting as a downstream effector of the pyruvate kinase/PKM and forms a complex with RNF5 to facilitate polyubiquitination and subsequent degradation of SCAP on the ER membrane.

TMEM33 is also known as 1600019D15Rik, Pom33, SHINC-3, SHINC3.

Associated Diseases

WES Whole Exome Sequencing