SMCO1 Gene: Function, Expression, and Disease Associations

SMCO1 (Single-pass Membrane Protein with Coiled-coil Domains 1) is a protein-coding gene located on chromosome 3q13.13. The encoded protein is a single-pass transmembrane protein containing coiled-coil domains, suggesting roles in membrane-associated signaling or structural functions. Expression data indicate broad tissue distribution, with highest levels in the brain and testis. Limited functional studies suggest potential involvement in cell proliferation and differentiation. Mutations and altered expression have been reported in various cancers and developmental disorders, though detailed mechanisms remain under investigation.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Not assigned to any canonical KEGG or Reactome pathway.

The SMCO1 protein (UniProt A6NKD9) is a 231-amino-acid single-pass type I membrane protein with a coiled-coil domain in its cytoplasmic region. It is predicted to localize to the plasma membrane and may participate in protein-protein interactions involved in cell signaling. Structural predictions suggest a short extracellular N-terminus and a longer intracellular C-terminus containing the coiled-coil motif. No enzymatic activity has been assigned. Expression is highest in brain and testis, with lower levels in other tissues. The protein's function remains largely uncharacterized, but it may play roles in cell adhesion or receptor-mediated signaling.