Protein-coding gene in the species Homo sapiens
SNRNP70 Identifiers Aliases SNRNP70 External IDs OMIM : 180740 MGI : 98341 HomoloGene : 20672 GeneCards : SNRNP70 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 .
Interactions [ edit ] 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]
References [ edit ] ^ 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 . Further reading [ edit ] Wilk HE, Schaefer KP, Agris PF, Boak AM, Kovacs SA (July 1991). "U1 SnRNP association with HnRNP involves an initial non-specific splice-site independent interaction of U1 SnRNP protein with HnRNA". Molecular and Cellular Biochemistry . 106 (1): 55–66. doi :10.1007/BF00231189 . PMID 1833625 . S2CID 22696966 . Query CC, Bentley RC, Keene JD (April 1989). "A common RNA recognition motif identified within a defined U1 RNA binding domain of the 70K U1 snRNP protein". Cell . 57 (1): 89–101. doi :10.1016/0092-8674(89)90175-X . PMID 2467746 . S2CID 22127152 . Du Clos TW (October 1989). "C-reactive protein reacts with the U1 small nuclear ribonucleoprotein" . Journal of Immunology . 143 (8): 2553–9. doi :10.4049/jimmunol.143.8.2553 PMID 2477447 . S2CID 84070596 . Theissen H, Etzerodt M, Reuter R, Schneider C, Lottspeich F, Argos P, Lührmann R, Philipson L (December 1986). "Cloning of the human cDNA for the U1 RNA-associated 70K protein" . The EMBO Journal . 5 (12): 3209–17. doi :10.1002/j.1460-2075.1986.tb04631.x . PMC 1167314 PMID 3028775 . Romac JM, Graff DH, Keene JD (July 1994). "The U1 small nuclear ribonucleoprotein (snRNP) 70K protein is transported independently of U1 snRNP particles via a nuclear localization signal in the RNA-binding domain" . Molecular and Cellular Biology . 14 (7): 4662–70. doi :10.1128/MCB.14.7.4662 . PMC 358839 PMID 7516470 . Wu JY, Maniatis T (December 1993). "Specific interactions between proteins implicated in splice site selection and regulated alternative splicing". Cell . 75 (6): 1061–70. doi :10.1016/0092-8674(93)90316-I . PMID 8261509 . S2CID 22951690 . Woppmann A, Will CL, Kornstädt U, Zuo P, Manley JL, Lührmann R (June 1993). "Identification of an snRNP-associated kinase activity that phosphorylates arginine/serine rich domains typical of splicing factors" . Nucleic Acids Research . 21 (12): 2815–22. doi :10.1093/nar/21.12.2815 . PMC 309659 PMID 8332490 . Northemann W, Berg H, Stahnke G, Walter M, Hunt N, Fenning S (December 1995). "Identification of an inhibitory element within the human 68-kDa (U1) ribonucleoprotein antigen". Protein Expression and Purification . 6 (6): 748–56. doi :10.1006/prep.1995.0005 . PMID 8746626 . Zhang WJ, Wu JY (October 1996). "Functional properties of p54, a novel SR protein active in constitutive and alternative splicing" . Molecular and Cellular Biology . 16 (10): 5400–8. doi :10.1128/MCB.16.10.5400 . PMC 231539 PMID 8816452 . Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery" . Genome Research . 6 (9): 791–806. doi :10.1101/gr.6.9.791 PMID 8889548 . Hong W, Bennett M, Xiao Y, Feld Kramer R, Wang C, Reed R (January 1997). "Association of U2 snRNP with the spliceosomal complex E" . Nucleic Acids Research . 25 (2): 354–61. doi :10.1093/nar/25.2.354 . PMC 146436 PMID 9016565 . Zhang WJ, Wu JY (February 1998). "Sip1, a novel RS domain-containing protein essential for pre-mRNA splicing" . Molecular and Cellular Biology . 18 (2): 676–84. doi :10.1128/MCB.18.2.676 . PMC 108778 PMID 9447963 . Blencowe BJ, Issner R, Nickerson JA, Sharp PA (April 1998). "A coactivator of pre-mRNA splicing" . Genes & Development . 12 (7): 996–1009. doi :10.1101/gad.12.7.996 . PMC 316672 PMID 9531537 . 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 . Neubauer G, King A, Rappsilber J, Calvio C, Watson M, Ajuh P, Sleeman J, Lamond A, Mann M (September 1998). "Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex". Nature Genetics . 20 (1): 46–50. doi :10.1038/1700 . PMID 9731529 . S2CID 585778 . 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 .
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