The product of this gene is part of the SMN protein complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomalsnRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.[2]
↑ 3.03.1Carnegie GK, Sleeman JE, Morrice N, Hastie CJ, Peggie MW, Philp A, Lamond AI, Cohen PT (May 2003). "Protein phosphatase 4 interacts with the Survival of Motor Neurons complex and enhances the temporal localisation of snRNPs". J. Cell Sci. 116 (Pt 10): 1905–13. doi:10.1242/jcs.00409. PMID12668731.
↑Meister G, Bühler D, Laggerbauer B, Zobawa M, Lottspeich F, Fischer U (August 2000). "Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins". Hum. Mol. Genet. 9 (13): 1977–86. doi:10.1093/hmg/9.13.1977. PMID10942426.
Further reading
Meister G, Bühler D, Laggerbauer B, Zobawa M, Lottspeich F, Fischer U (2000). "Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins". Hum. Mol. Genet. 9 (13): 1977–86. doi:10.1093/hmg/9.13.1977. PMID10942426.
Qin WX, Wan F, Sun FY, Zhang PP, Han LW, Huang Y, Jiang HQ, Zhao XT, He M, Ye Y, Cong WM, Wu MC, Zhang LS, Yang NW, Gu JR (2002). "Cloning and characterization of a novel gene (C17orf25) from the deletion region on chromosome 17p13.3 in hepatocelular carcinoma". Cell Res. 11 (3): 209–16. doi:10.1038/sj.cr.7290088. PMID11642406.
Gubitz AK, Mourelatos Z, Abel L, Rappsilber J, Mann M, Dreyfuss G (2002). "Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins". J. Biol. Chem. 277 (7): 5631–6. doi:10.1074/jbc.M109448200. PMID11714716.
Pellizzoni L, Baccon J, Rappsilber J, Mann M, Dreyfuss G (2002). "Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component". J. Biol. Chem. 277 (9): 7540–5. doi:10.1074/jbc.M110141200. PMID11748230.
Baccon J, Pellizzoni L, Rappsilber J, Mann M, Dreyfuss G (2002). "Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex". J. Biol. Chem. 277 (35): 31957–62. doi:10.1074/jbc.M203478200. PMID12065586.
Carnegie GK, Sleeman JE, Morrice N, Hastie CJ, Peggie MW, Philp A, Lamond AI, Cohen PT (2004). "Protein phosphatase 4 interacts with the Survival of Motor Neurons complex and enhances the temporal localisation of snRNPs". J. Cell Sci. 116 (Pt 10): 1905–13. doi:10.1242/jcs.00409. PMID12668731.
Di Y, Li J, Zhang Y, He X, Lu H, Xu D, Ling J, Huo K, Wan D, Li YY, Gu J (2004). "HCC-associated protein HCAP1, a variant of GEMIN4, interacts with zinc-finger proteins". J. Biochem. 133 (6): 713–8. doi:10.1093/jb/mvg091. PMID12869526.
Wan D, He M, Wang J, Qiu X, Zhou W, Luo Z, Chen J, Gu J (2004). "Two variants of the human hepatocellular carcinoma-associated HCAP1 gene and their effect on the growth of the human liver cancer cell line Hep3B". Genes Chromosomes Cancer. 39 (1): 48–58. doi:10.1002/gcc.10293. PMID14603441.
Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC1847948. PMID17353931.