STOML1 Human

STOML1 is encoded by the STOML1 gene located on chromosome 15 in humans . The protein itself contains one SCP2 domain and is expressed at low levels in various tissues . The recombinant form of STOML1 is produced in Escherichia coli and is a single, non-glycosylated polypeptide chain consisting of 343 amino acids with a molecular mass of approximately 37 kDa . The recombinant protein is often fused to a 23 amino acid His-tag at the N-terminus to facilitate purification .

STOML1 is predicted to act as an ion channel inhibitor, playing a role in modulating membrane acid-sensing ion channels . It can specifically inhibit the proton-gated current of the ASIC1 isoform 1 and increase the inactivation speed of ASIC3 . Additionally, STOML1 may be involved in the regulation of proton sensing in dorsal root ganglions and in protecting FBXW7 isoform 3 from degradation .

STOML1 is expressed at low levels in various tissues and is predicted to be located in cytoplasmic vesicles and active in the plasma membrane . Its expression patterns and tissue distribution suggest that it may have specialized roles in specific cellular contexts.

Mutations or dysregulation of the STOML1 gene have been associated with certain diseases, including Joubert Syndrome 14 and Esophageal Basaloid Squamous Cell Carcinoma . Understanding the function and regulation of STOML1 could provide insights into the pathogenesis of these conditions and potential therapeutic targets.

The recombinant form of STOML1 is produced in E. coli and is available for research purposes . It is typically formulated as a sterile filtered clear solution containing 20 mM Tris-HCl (pH 8.0) and 10% glycerol . The protein is stable when stored at 4°C for short-term use or at -20°C for long-term storage, with the addition of a carrier protein to prevent multiple freeze-thaw cycles .