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LRSAM1
Identifiers
Aliases	LRSAM1, CMT2P, RIFLE, TAL, leucine rich repeat and sterile alpha motif containing 1
External IDs	OMIM: 610933; MGI: 2684789; HomoloGene: 44526; GeneCards: LRSAM1; OMA:LRSAM1 - orthologs
Gene location (Human) Chr. Chromosome 9 (human) Band 9q33.3-q34.11 Start 127,451,489 bp End 127,503,499 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 B Start 32,815,228 bp End 32,851,626 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in apex of heart sural nerve skin of leg skin of abdomen left ventricle right hemisphere of cerebellum right frontal lobe muscle layer of sigmoid colon anterior cingulate cortex Brodmann area 9 Top expressed in Hypothalamus granulocyte placenta white adipose tissue neural layer of retina cerebellar cortex quadriceps femoris muscle skeletal muscle tissue olfactory bulb Mesencephalon More reference expression data BioGPS n/a
Gene ontology Molecular function ubiquitin protein ligase activity metal ion binding ubiquitin-protein transferase activity protein binding transferase activity volume-sensitive anion channel activity Cellular component cytoplasm membrane cytosol plasma membrane ion channel complex Biological process negative regulation of endocytosis positive regulation of autophagosome assembly protein polyubiquitination positive regulation of xenophagy viral budding autophagy protein catabolic process protein ubiquitination protein transport ubiquitin-dependent endocytosis protein autoubiquitination signal transduction anion transmembrane transport inorganic anion transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 90678 227738 Ensembl ENSG00000148356 ENSMUSG00000026792 UniProt Q6UWE0 Q80ZI6 RefSeq (mRNA) NM_001005373 NM_001005374 NM_001190723 NM_138361 NM_001384142 NM_001384143 NM_001384144 NM_199302 NM_001379439 NM_001379440 NM_001379441 NM_001379442 NM_001379443 RefSeq (protein) NP_001005373 NP_001005374 NP_001177652 NP_612370 NP_001371071 NP_001371072 NP_001371073 NP_955006 NP_001366368 NP_001366369 NP_001366370 NP_001366371 NP_001366372 Location (UCSC) Chr 9: 127.45 – 127.5 Mb Chr 2: 32.82 – 32.85 Mb PubMed search
Wikidata
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E3 ubiquitin-protein ligase LRSAM1, previously known as Tsg101-associated ligase (Tal), is an enzyme that in humans is encoded by the LRSAM1 gene.

Clinical significance

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

Interactions

LRSAM1 has been shown to interact with TSG101.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000148356 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000026792 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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 (Oct 2003). "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. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
6. "Entrez Gene: LRSAM1 leucine rich repeat and sterile alpha motif containing 1".
7. 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 (August 2010). "Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease". PLOS Genet. 6 (8): e1001081. doi:10.1371/journal.pgen.1001081. PMC 2928813. PMID 20865121.
8. 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 (January 2012). "A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy". Hum. Mol. Genet. 21 (2): 358–70. doi:10.1093/hmg/ddr471. PMC 3276280. PMID 22012984.
9. Nicolaou P, Cianchetti C, Minaidou A, Marrosu G, Zamba-Papanicolaou E, Middleton L, Christodoulou K (February 2013). "A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease". Eur. J. Hum. Genet. 21 (2): 190–4. doi:10.1038/ejhg.2012.146. PMC 3548253. PMID 22781092.
10. Bogdanik LP, Sleigh JN, Tian C, Samuels ME, Bedard K, Seburn KL, Burgess RW (May 2013). "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. doi:10.1242/dmm.010942. PMC 3634660. PMID 23519028.
11. 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 (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
12. 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 (July 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. PMC 478194. PMID 15256501.

Further reading

• Mazzé FM, Degrève L (2006). "The role of viral and cellular proteins in the budding of human immunodeficiency virus". Acta Virol. 50 (2): 75–85. PMID 16808324.
• Auffray C, Behar G, Bois F, et al. (1995). "". 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• 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. S2CID 11087473.
• 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. Bibcode:2004Natur.429..369H. doi:10.1038/nature02465. PMC 2734081. PMID 15164053.
• 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. PMC 478194. 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. PMC 528928. 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• 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. S2CID 13709685.

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