LRSAM1 explained

E3 ubiquitin-protein ligase LRSAM1, previously known as Tsg101-associated ligase (Tal), is an enzyme that in humans is encoded by the LRSAM1 gene.^{[1] [2]}

Clinical significance

Mutations in LRSAM1 have been reported in the peripheral neuropathy Charcot-Marie-Tooth type 2P (OMIM 614436),^{[3] [4] [5]} while disruption of the mouse Lrsam1 gene has been shown to sensitize peripheral axons to acrylamide-induced degeneration.^[6]

Interactions

LRSAM1 has been shown to interact with TSG101.^{[7] [8]}

Further reading

• Mazzé FM, Degrève L . The role of viral and cellular proteins in the budding of human immunodeficiency virus . Acta Virol. . 50 . 2 . 75–85 . 2006 . 16808324 .
• Auffray C . [IMAGE: molecular integration of the analysis of the human genome and its expression] . Comptes Rendus de l'Académie des Sciences, Série III . 318 . 2 . 263–72 . 1995 . 7757816 . vanc. Behar G . Bois F . 3 . Bouchier . C . Da Silva . C . Devignes . MD . Duprat . S . Houlgatte . R . Jumeau . MN .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Li B . RIFLE: a novel ring zinc finger-leucine-rich repeat containing protein, regulates select cell adhesion molecules in PC12 cells . J. Cell. Biochem. . 90 . 6 . 1224–41 . 2004 . 14635195 . 10.1002/jcb.10674 . vanc. Su Y . Ryder J . 3 . Yan . Lei . Na . Songqing . Ni . Binhui . 11087473 .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Humphray SJ . DNA sequence and analysis of human chromosome 9 . Nature . 429 . 6990 . 369–74 . 2004 . 15164053 . 10.1038/nature02465 . 2734081 . vanc. Oliver K . Hunt AR . 3 . Plumb . R. W. . Loveland . J. E. . Howe . K. L. . Andrews . T. D. . Searle . S. . Hunt . S. E. . 2004Natur.429..369H .
• Amit I . Tal, a Tsg101-specific E3 ubiquitin ligase, regulates receptor endocytosis and retrovirus budding . Genes Dev. . 18 . 14 . 1737–52 . 2004 . 15256501 . 10.1101/gad.294904 . 478194 . vanc. Yakir L . Katz M . 3 . Zwang . Y . Marmor . MD . Citri . A . Shtiegman . K . Alroy . I . Tuvia . S .
• Gerhard DS . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Rual JF . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . vanc. Venkatesan K . Hao T . 3 . Hirozane-Kishikawa . Tomoko . Dricot . Amélie . Li . Ning . Berriz . Gabriel F. . Gibbons . Francis D. . Dreze . Matija . 2005Natur.437.1173R . 4427026 .
• Lim J . A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration . Cell . 125 . 4 . 801–14 . 2006 . 16713569 . 10.1016/j.cell.2006.03.032 . vanc. Hao T . Shaw C . 3 . Patel . Akash J. . Szabó . Gábor . Rual . Jean-François . Fisk . C. Joseph . Li . Ning . Smolyar . Alex . 13709685 . free .

Notes and References

1. Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A . The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment . Genome Res . 13 . 10 . 2265–70 . Oct 2003 . 12975309 . 403697 . 10.1101/gr.1293003 .
2. Web site: Entrez Gene: LRSAM1 leucine rich repeat and sterile alpha motif containing 1.
3. Guernsey DL, Jiang H, Bedard K, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Perry S, Rideout AL, Orr A, Ludman M, Skidmore DL, Benstead T, Samuels ME . Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease . PLOS Genet. . 6 . 8 . e1001081. August 2010 . 20865121 . 2928813 . 10.1371/journal.pgen.1001081 . free .
4. Weterman MA, Sorrentino V, Kasher PR, Jakobs ME, van Engelen BG, Fluiter K, de Wissel MB, Sizarov A, Nürnberg G, Nürnberg P, Zelcer N, Schelhaas HJ, Baas F . A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy . Hum. Mol. Genet. . 21 . 2 . 358–70 . January 2012 . 22012984 . 3276280 . 10.1093/hmg/ddr471 .
5. Nicolaou P, Cianchetti C, Minaidou A, Marrosu G, Zamba-Papanicolaou E, Middleton L, Christodoulou K . A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease . Eur. J. Hum. Genet. . 21 . 2 . 190–4 . February 2013 . 22781092 . 10.1038/ejhg.2012.146 . 3548253.
6. Bogdanik LP, Sleigh JN, Tian C, Samuels ME, Bedard K, Seburn KL, Burgess RW . Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease . Dis. Models Mech. . 6 . 3 . 780–92 . May 2013 . 23519028 . 3634660 . 10.1242/dmm.010942 .
7. 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 . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . October 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .
8. Amit I, Yakir L, Katz M, Zwang Y, Marmor MD, Citri A, Shtiegman K, Alroy I, Tuvia S, Reiss Y, Roubini E, Cohen M, Wides R, Bacharach E, Schubert U, Yarden Y . Tal, a Tsg101-specific E3 ubiquitin ligase, regulates receptor endocytosis and retrovirus budding . Genes Dev. . 18 . 14 . 1737–52 . July 2004 . 15256501 . 478194 . 10.1101/gad.294904 .