HGNC Approved Gene Symbol: SNRPA
Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38) : 19:40,751,203-40,765,389 (from NCBI)
The U1 snRNP (small nuclear ribonucleoprotein) particle is the most abundant of the U snRNPs, which participate in pre-mRNA splicing as components of the spliceosome. The U1 snRNP binds to the 5-prime splice site of precursor mRNAs, and is composed of the U1 snRNA (180680); 3 specific proteins, called 70K (SNRP70; 180740), A (SNRPA), and C (SNRPC; 603522); and several common proteins also found in other snRNPs. Sera from patients with SLE (152700) and other connective tissue diseases often contain antibodies against snRNA-associated proteins. By screening a human teratocarcinoma cell expression library with an anti-U1 snRNP serum, Sillekens et al. (1987) isolated cDNAs encoding SNRPA. The predicted 297-amino acid protein contains a hydrophilic region, an internal sequence duplication, and an RNP consensus domain common to RNA-binding proteins. By SDS-PAGE, SNRPA has a molecular mass of 32 kD. SNRPA shares 2 regions of homology with SNRPB2 (603520), a component of the U2 snRNP particle, and the proteins are structurally related. The authors suggested that although SNRPA and SNRPB2 are located in different snRNP particles, they may have identical functions. Northern blot analysis indicated that the SNRPA gene is expressed as a 1.4-kb mRNA. Nelissen et al. (1991) determined that the SNRPA gene contains 6 exons and extends over 14 to 16 kb.
Schonk et al. (1990) mapped the SNRPA gene to 19q13.1 by hybridization studies using a panel of somatic cell hybrids with subchromosomal segments of 19q.
Nelissen, R. L. H., Sillekens, P. T. G., Beijer, R. P., Geurts van Kessel, A. H. M., van Venrooij, W. J. Structure, chromosomal localization and evolutionary conservation of the gene encoding human U1 snRNP-specific A protein. Gene 102: 189-196, 1991. [PubMed: 1831431] [Full Text: https://doi.org/10.1016/0378-1119(91)90077-o]
Schonk, D., van Dijk, P., Riegmann, P., Trapman, J., Holm, C., Willcocks, T. C., Sillekens, P., van Venrooij, W., Wimmer, E., Geurts van Kessel, A., Ropers, H.-H., Wieringa, B. Assignment of seven genes to distinct intervals on the midportion of human chromosome 19q surrounding the myotonic dystrophy gene region. Cytogenet. Cell Genet. 54: 15-19, 1990. [PubMed: 1701111] [Full Text: https://doi.org/10.1159/000132946]
Sillekens, P. T. G., Habets, W. J., Beijer, R. P., van Venrooij, W. J. cDNA cloning of the human U1 snRNA-associated A protein: extensive homology between U1 and U2 snRNP-specific proteins. EMBO J. 6: 3841-3848, 1987. [PubMed: 2962859] [Full Text: https://doi.org/10.1002/j.1460-2075.1987.tb02721.x]