Biology:LRSAM1
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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]
References
- ↑ "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. doi:10.1101/gr.1293003. PMID 12975309.
- ↑ "Entrez Gene: LRSAM1 leucine rich repeat and sterile alpha motif containing 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=90678.
- ↑ "Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease". PLOS Genet. 6 (8): e1001081. August 2010. doi:10.1371/journal.pgen.1001081. PMID 20865121.
- ↑ "A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy". Hum. Mol. Genet. 21 (2): 358–70. January 2012. doi:10.1093/hmg/ddr471. PMID 22012984.
- ↑ "A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease". Eur. J. Hum. Genet. 21 (2): 190–4. February 2013. doi:10.1038/ejhg.2012.146. PMID 22781092.
- ↑ "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. doi:10.1242/dmm.010942. PMID 23519028.
- ↑ "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. October 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R.
- ↑ "Tal, a Tsg101-specific E3 ubiquitin ligase, regulates receptor endocytosis and retrovirus budding". Genes Dev. 18 (14): 1737–52. July 2004. doi:10.1101/gad.294904. PMID 15256501.
Further reading
- "The role of viral and cellular proteins in the budding of human immunodeficiency virus". Acta Virol. 50 (2): 75–85. 2006. PMID 16808324.
- Auffray C; Behar G; Bois F et al. (1995). "[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. PMID 7757816.
- Strausberg RL; Feingold EA; Grouse LH et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- Li B; Su Y; Ryder J et al. (2004). "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. doi:10.1002/jcb.10674. PMID 14635195.
- Ota T; Suzuki Y; Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Humphray SJ; Oliver K; Hunt AR et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature 429 (6990): 369–74. doi:10.1038/nature02465. PMID 15164053. Bibcode: 2004Natur.429..369H.
- Amit I; Yakir L; Katz M et al. (2004). "Tal, a Tsg101-specific E3 ubiquitin ligase, regulates receptor endocytosis and retrovirus budding". Genes Dev. 18 (14): 1737–52. doi:10.1101/gad.294904. PMID 15256501.
- Gerhard DS; Wagner L; Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Rual JF; Venkatesan K; Hao T et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R.
- Lim J; Hao T; Shaw C et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.
 |  |
