LRSAM1

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
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9q33.3-q34.11 Start 127,451,489 bp [1] End 127,503,499 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2|2 B Start 32,815,228 bp [2] End 32,851,626 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve skin of abdomen left ventricle Brodmann area 9 right adrenal gland hypothalamus prefrontal cortex left adrenal gland right uterine tube gastrocnemius muscle Top expressed in hypothalamus placenta white adipose tissue cerebellar cortex quadriceps femoris muscle skeletal muscle tissue olfactory bulb mesencephalon ovary hippocampus proper 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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

E3 ubiquitin-protein ligase LRSAM1, previously known as Tsg101-associated ligase (Tal), is an enzyme that in humans is encoded by the LRSAM1 gene. ^{[5] [6]}

Clinical significance

Mutations in LRSAM1 have been reported in the peripheral neuropathy Charcot-Marie-Tooth type 2P (OMIM 614436), ^{[7] [8] [9]} while disruption of the mouse Lrsam1 gene has been shown to sensitize peripheral axons to acrylamide-induced degeneration. ^[10]

Interactions

LRSAM1 has been shown to interact with TSG101. ^{[11] [12]}

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). "[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. 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.