Snurportin-1 (SNUPN)

Snurportin-1 (SNUPN) is a 360-amino acid nuclear import adaptor protein encoded by the SNUPN gene on human chromosome 15. It binds the trimethylguanosine (m3G) cap found on spliceosomal U snRNPs and interacts with Importin-β1 to mediate snRNP transport into the nucleus, a process essential for proper spliceosome assembly and mRNA processing. The protein has an Importin-β binding domain (IBB) at the N-terminus and a m3G-cap binding region at the C-terminus. Deficiency or mutation in SNUPN leads to defective spliceosomal maturation, cytoskeletal disorganization, and Mendelian recessive muscular dystrophy (LGMDR29), with associated neurological phenotypes. Snurportin-1 is not a drug target or receptor but is essential for normal nuclear transport and gene expression regulation in muscle and neuronal tissues. No interacting drugs or safety concerns are described, and while disease-causing mutations exist, its role as a marker is limited to rare inherited disease diagnosis.

Other names

SNUPNSPN1RNUT1SNURPORTIN-1Snurportin1RNA U transporter 1KPNBLLGMDR29