Small integral membrane protein 19 (SMIM19)

Small integral membrane protein 19 (SMIM19) is a single-pass transmembrane protein encoded by the SMIM19 gene (also known as C8orf40) located at human chromosome 8p11.21[1][3]. It is expressed in a range of tissues with moderate to high abundance and is predicted to be associated with the endoplasmic reticulum membrane, although some predictions also suggest potential mitochondrial localization[1]. SMIM19 consists of 107 amino acids, has a single hydrophobic transmembrane region followed by a distinctive KRR (lysine-arginine-arginine) motif, and shows no enrichment in particular amino acids or repeat structures[1]. No clear molecular or biological function has been experimentally validated, and there are no paralogs in the human genome[1]. Disease associations arise from large deletions including SMIM19 and neighboring genes—implicating it in various cancers and rare syndromes—but its specific role in disease is unproven[1][3]. No drugs are currently known to target SMIM19, and there is no evidence supporting its use as a biomarker or therapeutic target[1][2][3].

Other names

C8orf40UPF0697 protein C8orf40LOC114926DoyzeebyBeeveybusmall integral membrane protein 19