Sec1 family domain-containing protein 1 (SCFD1)

Sec1 family domain-containing protein 1 (SCFD1) is a member of the Sec1/Munc18 (SM) family of proteins, widely conserved across species[2][3]. SCFD1 is involved in the regulation of membrane fusion events by cooperating with SNARE complexes, playing a crucial role in vesicular transport between the endoplasmic reticulum (ER) and the Golgi apparatus[2][3]. This protein is essential for proper protein transport, Golgi-to-ER retrograde trafficking, and the assembly of SNARE complexes, acting via interactions such as with COG4 and potentially syntaxin[3][5]. Functional studies (particularly in model organisms) show that loss-of-function mutations in SCFD1 can cause severe developmental abnormalities, including dilated cardiomyopathy, craniofacial defects, and defects in protein homeostasis due to disrupted trafficking and resultant ER stress[2]. Although it is not generally considered a classic therapeutic target (e.g., receptor or enzyme), its importance in fundamental cellular processes—and its association with human diseases such as cardiomyopathy and rare genetic syndromes—makes it a significant protein for basic and translational research[2][3][5].

Other names

C14orf163KIAA0917STXBP1L2FKSG23Sly1pRA410SLY1SLY1 homologSyntaxin-binding protein 1-like 2vesicle transport-related protein