Exosome component 5 explained

Exosome component 5, also known as EXOSC5, is a human gene, which is part of the exosome complex.^[1]

Biallelic pathogenic variation in EXOSC5 causes autosomal recessive cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC, MIM 619576).^{[2] [3] [4] [5]} Individuals with CABAC often have delayed developmental milestones, intellectual disability, cerebellar ataxia, hypotonia, dysarthria, and dysmorphic facies. Cardiac abnormalities including conduction defects, right bundle branch block, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and/or ventricular tachycardia. Cardiac pacemakers and defibrillators have been needed, and sudden cardiac death has been reported.

Interactions

Exosome component 5 has been shown to interact with:

• Exosome component 1,^[6] and
• Exosome component 8.^[7]

Further reading

• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Research . 6 . 9 . 791–806 . September 1996 . 8889548 . 10.1101/gr.6.9.791 . free .
• Allmang C, Petfalski E, Podtelejnikov A, Mann M, Tollervey D, Mitchell P . The yeast exosome and human PM-Scl are related complexes of 3' --> 5' exonucleases . Genes & Development . 13 . 16 . 2148–2158 . August 1999 . 10465791 . 316947 . 10.1101/gad.13.16.2148 .
• Brouwer R, Allmang C, Raijmakers R, van Aarssen Y, Egberts WV, Petfalski E, van Venrooij WJ, Tollervey D, Pruijn GJ . 6 . Three novel components of the human exosome . The Journal of Biological Chemistry . 276 . 9 . 6177–6184 . March 2001 . 11110791 . 10.1074/jbc.M007603200 . free . 2066/186951 . free .
• Chen CY, Gherzi R, Ong SE, Chan EL, Raijmakers R, Pruijn GJ, Stoecklin G, Moroni C, Mann M, Karin M . 6 . AU binding proteins recruit the exosome to degrade ARE-containing mRNAs . Cell . 107 . 4 . 451–464 . November 2001 . 11719186 . 10.1016/S0092-8674(01)00578-5 . 14817671 . free .
• Raijmakers R, Noordman YE, van Venrooij WJ, Pruijn GJ . Protein-protein interactions of hCsl4p with other human exosome subunits . Journal of Molecular Biology . 315 . 4 . 809–818 . January 2002 . 11812149 . 10.1006/jmbi.2001.5265 . 2066/261980 . free .
• Brouwer R, Vree Egberts WT, Hengstman GJ, Raijmakers R, van Engelen BG, Seelig HP, Renz M, Mierau R, Genth E, Pruijn GJ, van Venrooij WJ . 6 . Autoantibodies directed to novel components of the PM/Scl complex, the human exosome . Arthritis Research . 4 . 2 . 134–138 . 2002 . 11879549 . 83843 . 10.1186/ar389 . free .
• Yang XF, Wu CJ, Chen L, Alyea EP, Canning C, Kantoff P, Soiffer RJ, Dranoff G, Ritz J . 6 . CML28 is a broadly immunogenic antigen, which is overexpressed in tumor cells . Cancer Research . 62 . 19 . 5517–5522 . October 2002 . 12359762 . 4762257 .
• Raijmakers R, Egberts WV, van Venrooij WJ, Pruijn GJ . Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring . Journal of Molecular Biology . 323 . 4 . 653–663 . November 2002 . 12419256 . 10.1016/S0022-2836(02)00947-6 . 2066/186665 . free .
• Lehner B, Sanderson CM . A protein interaction framework for human mRNA degradation . Genome Research . 14 . 7 . 1315–1323 . July 2004 . 15231747 . 442147 . 10.1101/gr.2122004 .
• Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, Mann M . Nucleolar proteome dynamics . Nature . 433 . 7021 . 77–83 . January 2005 . 15635413 . 10.1038/nature03207 . 4344740 . 2005Natur.433...77A .
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M . 6 . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–1178 . October 2005 . 16189514 . 10.1038/nature04209 . 4427026 . 2005Natur.437.1173R .
• Zhou H, Zhang D, Wang Y, Dai M, Zhang L, Liu W, Liu D, Tan H, Huang Z . 6 . Induction of CML28-specific cytotoxic T cell responses using co-transfected dendritic cells with CML28 DNA vaccine and SOCS1 small interfering RNA expression vector . Biochemical and Biophysical Research Communications . 347 . 1 . 200–207 . August 2006 . 16815301 . 10.1016/j.bbrc.2006.06.093 .
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks . Cell . 127 . 3 . 635–648 . November 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . 7827573 . free .

Notes and References

1. Web site: Entrez Gene: EXOSC5 exosome component 5.
2. Web site: Entry - #619576 - CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC - OMIM . 2023-01-23 . omim.org . en-us.
3. Beheshtian M, Fattahi Z, Fadaee M, Vazehan R, Jamali P, Parsimehr E, Kamgar M, Zonooz MF, Mahdavi SS, Kalhor Z, Arzhangi S, Abedini SS, Kermani FS, Mojahedi F, Kalscheuer VM, Ropers HH, Kariminejad A, Najmabadi H, Kahrizi K . 6 . Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families . Clinical Genetics . 95 . 6 . 718–725 . June 2019 . 30950035 . 10.1111/cge.13549 . 96434991 .
4. Calame DG, Herman I, Fatih JM, Du H, Akay G, Jhangiani SN, Coban-Akdemir Z, Milewicz DM, Gibbs RA, Posey JE, Marafi D, Hunter JV, Fan Y, Lupski JR, Miyake CY . 6 . Risk of sudden cardiac death in EXOSC5-related disease . American Journal of Medical Genetics. Part A . 185 . 8 . 2532–2540 . August 2021 . 34089229 . 8382094 . 10.1002/ajmg.a.62352 .
5. Slavotinek A, Misceo D, Htun S, Mathisen L, Frengen E, Foreman M, Hurtig JE, Enyenihi L, Sterrett MC, Leung SW, Schneidman-Duhovny D, Estrada-Veras J, Duncan JL, Haaxma CA, Kamsteeg EJ, Xia V, Beleford D, Si Y, Douglas G, Treidene HE, van Hoof A, Fasken MB, Corbett AH . 6 . Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness . Human Molecular Genetics . 29 . 13 . 2218–2239 . August 2020 . 32504085 . 7399534 . 10.1093/hmg/ddaa108 .
6. Raijmakers R, Noordman YE, van Venrooij WJ, Pruijn GJ . Protein-protein interactions of hCsl4p with other human exosome subunits . Journal of Molecular Biology . 315 . 4 . 809–818 . January 2002 . 11812149 . 10.1006/jmbi.2001.5265 . 2066/261980 . free .
7. Raijmakers R, Egberts WV, van Venrooij WJ, Pruijn GJ . Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring . Journal of Molecular Biology . 323 . 4 . 653–663 . November 2002 . 12419256 . 10.1016/s0022-2836(02)00947-6 . 2066/186665 . free .