Disease:


  • OMIM ID: 603521 . 603521
  • OMIM diseaseName:
  • OMIM diseaseClinical_Synopsis:
  • OMIM diseaseText: CLONING The A-prime polypeptide (SNRPA1) is one of the specific protein constituents of the U2 snRNP (small nuclear ribonucleoprotein) particle. See SNRPB2 (603520). Patients with connective tissue diseases often produce autoantibodies against snRNP particles. By screening a human teratocarcinoma cell expression library with anti-RNP sera, Sillekens et al. (1989) isolated a cDNA encoding SNRPA1. The predicted 255-amino acid protein has an apparent molecular mass of 28 kD by SDS-PAGE. Northern blot analysis indicated that the SRNPA1 gene is expressed as a 1.3-kb mRNA in HeLa cells. GENE FUNCTION Using a library of endoribonuclease-prepared short interfering RNAs (esiRNAs), Kittler et al. (2004) identified 37 genes required for cell division, one of which was SNRPA1. These 37 genes included several splicing factors for which knockdown generates mitotic spindle defects. In addition, a putative nuclear-export terminator was found to speed up cell proliferation and mitotic progression after knockdown. GENE STRUCTURE Fan et al. (2002) determined that the SNRPA1 gene contains 9 exons and spans 13.5 kb. MAPPING By FISH and PCR analysis of a hybrid panel, Fan et al. (2002) mapped the SNRPA1 gene to chromosome 15q26.3. They mapped the mouse Snrpa1 gene to a region of chromosome 7 defined by a disruption in conserved synteny. The mouse Snrpa1 gene is surrounded by genes whose human orthologs map to chromosome 15q11-q12 rather than 15qter.
  • OMIM diseaseSee_Also:
  • OMIM diseaseAllelic_Variants:
  • OMIM diseaseCreation_Date: Rebekah S. Rasooly: 2/11/1999
  • OMIM diseaseEdit_History_Data: mgross: 06/06/2007 terry: 5/8/2007 alopez: 3/8/2005 joanna: 8/29/2002 alopez: 2/11/1999
  • OMIM diseaseContributors: Patricia A. Hartz - updated: 5/8/2007 Ada Hamosh - updated: 3/8/2005 Joanna S. Amberger - updated: 8/29/2002
  • OMIM diseaseReference: 1. Fan, Y.; Newman, T.; Linardopoulou, E.; Trask, B. J.: Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions. Genome Res. 12: 1663-1672, 2002. 2. Kittler, R.; Putz, G.; Pelletier, L.; Poser, I.; Heninger, A.-K.; Drechsel, D.; Fischer, S.; Konstantinova, I.; Habermann, B.; Grabner, H.; Yaspo, M.-L.; Himmelbauer, H.; Korn, B.; Neugebauer, K.; Pisabarro, M. T.; Buchholz, F.: An endoribonuclease-prepared siRNA screen in human cells identifies genes essential for cell division. Nature 432: 1036-1040, 2004. 3. Sillekens, P. T. G.; Beijer, R. P.; Habets, W. J.; van Venrooij, W. J.: Molecular cloning of the cDNA for the human U2 snRNA-specific A-prime protein. Nucleic Acids Res. 17: 1893-1906, 1989.