LRSAM1
Identifiers
AliasesLRSAM1, CMT2P, RIFLE, TAL, leucine rich repeat and sterile alpha motif containing 1
External IDsOMIM: 610933 MGI: 2684789 HomoloGene: 44526 GeneCards: LRSAM1
Orthologs
SpeciesHumanMouse
Entrez

90678

227738

Ensembl

ENSG00000148356

ENSMUSG00000026792

UniProt

Q6UWE0

Q80ZI6

RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 9: 127.45 – 127.5 MbChr 2: 32.82 – 32.85 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000148356 - Ensembl, May 2017
  2. 1 2 3 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


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