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Protein-coding gene in the species Homo sapiens
SNRNP70 Identifiers Aliases SNRNP70 External IDs OMIM : 180740 ; MGI : 98341 ; HomoloGene : 20672 ; GeneCards : SNRNP70 ; OMA :SNRNP70 - orthologs Wikidata
snRNP70 also known as U1 small nuclear ribonucleoprotein 70 kDa is a protein [ 5] SNRNP70 gene .[ 6] [ 7] small nuclear ribonucleoprotein that associates with U1 spliceosomal RNA , forming the U1snRNP a core component of the spliceosome . The U1-70K protein and other components of the spliceosome complex form detergent-insoluble aggregates in both sporadic and familial human cases of Alzheimer's disease .[ 8] [ 9] Tau in neurofibrillary tangles in Alzheimer's disease .
snRNP70 has been shown to interact with ASF/SF2 ,[ 10] [ 11] SRPK1 ,[ 12] [ 13] ZRANB2 .[ 14]
Role in autoimmunity [ edit ] Antibodies towards snRNP70 are associated with mixed connective tissue disease .[ 15]
^ a b c GRCh38: Ensembl release 89: ENSG00000104852 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000063511 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Spritz RA, Strunk K, Surowy CS, Hoch SO, Barton DE, Francke U (December 1987). "The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding" . Nucleic Acids Research . 15 (24): 10373– 91. doi :10.1093/nar/15.24.10373 . PMC 339950 PMID 2447561 . ^ "Entrez Gene: SNRP70 small nuclear ribonucleoprotein 70kDa polypeptide (RNP antigen)" .^ Spritz RA, Strunk K, Surowy CS, Mohrenweiser HW (October 1990). "Human U1-70K ribonucleoprotein antigen gene: organization, nucleotide sequence, and mapping to locus 19q13.3". Genomics . 8 (2): 371– 9. doi :10.1016/0888-7543(90)90295-6 . PMID 2147422 . ^ Diner I, Hales CM, Bishof I, Rabenold L, Duong DM, Yi H, Laur O, Gearing M, Troncoso J, Thambisetty M, Lah JJ, Levey AI, Seyfried NT (December 2014). "Aggregation properties of the small nuclear ribonucleoprotein U1-70K in Alzheimer disease" . The Journal of Biological Chemistry . 289 (51): 35296– 313. doi :10.1074/jbc.M114.562959 PMC 4271217 PMID 25355317 . ^ Hales CM, Seyfried NT, Dammer EB, Duong D, Yi H, Gearing M, Troncoso JC, Mufson EJ, Thambisetty M, Levey AI, Lah JJ (April 2014). "U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21" . Molecular Neurodegeneration . 9 : 15. doi :10.1186/1750-1326-9-15 PMC 4022210 PMID 24773620 . ^ Xiao SH, Manley JL (November 1998). "Phosphorylation-dephosphorylation differentially affects activities of splicing factor ASF/SF2" . The EMBO Journal . 17 (21): 6359– 67. doi :10.1093/emboj/17.21.6359 . PMC 1170960 PMID 9799243 . ^ Cao W, Garcia-Blanco MA (August 1998). "A serine/arginine-rich domain in the human U1 70k protein is necessary and sufficient for ASF/SF2 binding" . The Journal of Biological Chemistry . 273 (32): 20629– 35. doi :10.1074/jbc.273.32.20629 PMID 9685421 . ^ Wang HY, Lin W, Dyck JA, Yeakley JM, Songyang Z, Cantley LC, Fu XD (February 1998). "SRPK2: a differentially expressed SR protein-specific kinase involved in mediating the interaction and localization of pre-mRNA splicing factors in mammalian cells" . The Journal of Cell Biology . 140 (4): 737– 50. doi :10.1083/jcb.140.4.737 . PMC 2141757 PMID 9472028 . ^ Kamachi M, Le TM, Kim SJ, Geiger ME, Anderson P, Utz PJ (November 2002). "Human autoimmune sera as molecular probes for the identification of an autoantigen kinase signaling pathway" . The Journal of Experimental Medicine . 196 (9): 1213– 25. doi :10.1084/jem.20021167 . PMC 2194102 PMID 12417631 . ^ Adams DJ, van der Weyden L, Mayeda A, Stamm S, Morris BJ, Rasko JE (July 2001). "ZNF265--a novel spliceosomal protein able to induce alternative splicing" . The Journal of Cell Biology . 154 (1): 25– 32. doi :10.1083/jcb.200010059 . PMC 2196870 PMID 11448987 . ^ Sato T, Fujii T, Yokoyama T, Fujita Y, Imura Y, Yukawa N, Kawabata D, Nojima T, Ohmura K, Usui T, Mimori T (December 2010). "Anti-U1 RNP antibodies in cerebrospinal fluid are associated with central neuropsychiatric manifestations in systemic lupus erythematosus and mixed connective tissue disease". Arthritis and Rheumatism . 62 (12): 3730– 40. doi :10.1002/art.27700 . hdl :2433/142082 PMID 20722023 .
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