HGNC Approved Gene Symbol: SNRPF
Cytogenetic location: 12q23.1 Genomic coordinates (GRCh38): 12:95,858,952-95,866,140 (from NCBI)
The 4 major small nuclear ribonucleoprotein particles (snRNPs), U1, U2, U4/U6, and U5, are essential components of the eukaryotic pre-mRNA splicing machinery. These snRNPs share 8 proteins which form the snRNP structural core: B/B-prime (SNRPB; 182282), D1 (SNRPD1; 601063), D2 (SNRPD2; 601061), D3 (SNRPD3; 601062), E (SNRPE; 128260), F (SNRPF), and G (SNRPG; 603542). These common proteins play an essential role in the biogenesis of the snRNPs. The assembly of the common proteins onto the small nuclear RNA (snRNA) appears to occur in at least 2 steps and involves the formation of RNA-free protein heterooligomers. The common proteins are referred to as Sm proteins because they represent the major targets for the anti-Sm autoantibodies which are diagnostic for SLE (152700) (summary by Hermann et al., 1995).
By performing RACE on a HeLa cell cDNA library using primers based on the partial protein sequence of SNRPF, Hermann et al. (1995) cloned SNRPF cDNAs. The predicted 86-amino acid protein contains 16% acidic residues and has a calculated pI of 4.6. Sequence comparisons of the 8 human Sm proteins indicated that they share 2 homologous regions, which the authors termed Sm motifs. The Sm motifs are also highly conserved in the putative snRNP core proteins of a variety of other organisms. Using coimmunoprecipitation studies, Hermann et al. (1995) demonstrated that the Sm motifs are involved, at least in part, in Sm protein-protein interactions. Northern blot analysis revealed that the SNRPF gene is expressed as an approximately 0.5-kb mRNA in HeLa cells.
Hermann, H., Fabrizio, P., Raker, V. A., Foulaki, K., Hornig, H., Brahms, H., Luhrmann, R. snRNP Sm proteins share two evolutionarily conserved sequence motifs which are involved in Sm protein-protein interactions. EMBO J. 14: 2076-2088, 1995. [PubMed: 7744013] [Full Text: https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0261-4189&date=1995&volume=14&issue=9&spage=2076]