ATP-dependent RNA helicase SUPV3L1, mitochondrial (SUPV3L1)

SUPV3L1 encodes an ATP-dependent RNA helicase primarily localized in the mitochondrial matrix, with additional nuclear localization reported. It functions as a major component of the mitochondrial degradosome (mtEXO) complex, unwinding double-stranded RNA, DNA, and RNA/DNA hybrids, mainly in the 3’-to-5’ direction. SUPV3L1 is essential for mitochondrial RNA metabolism, including degradation of non-coding RNAs, processing of tRNA-containing polycistronic transcripts, and regulation of mRNA stability. It contributes to RNA surveillance, preventing the accumulation of deleterious RNA byproducts and maintaining correct transcript and tRNA processing. SUPV3L1 also plays roles in recombination, chromatin maintenance, and protection from apoptosis. Disease mutations in SUPV3L1 disrupt proper mitochondrial RNA processing, resulting in neurodegenerative syndromes, combined oxidative phosphorylation deficiencies, and developmental lethality. SUPV3L1 belongs to the Ski2 family of DExH-box RNA helicases and interacts with polynucleotide phosphorylase (PNPase) in the mitochondrial degradosome. Its critical role in mitochondrial function means therapeutic inhibition could pose significant safety concerns related to mitochondrial disease and neurodegeneration.

Other names

Suv3 like RNA helicaseSUPV3L1SUV3SUV3-like protein 1suppressor of var1 3-like protein 1suppressor of var1, 3-like 1(SUV3)SUPV3L1phSUPV3L1Q8IYB8B1AR60