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; OMA:LRSAM1 - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	127,503,499 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	32,851,626 bp
RNA expression pattern
	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
	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
	90678
	227738
	ENSG00000148356
	ENSMUSG00000026792
	Q6UWE0
	Q80ZI6
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
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
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000148356 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026792 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ "Entrez Gene: LRSAM1 leucine rich repeat and sterile alpha motif containing 1".
^ 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.
^ 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.
^ 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.
^ 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.
^ 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.
^ 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.

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.

This article on a gene on human chromosome 9 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000148356 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid12975309-5] 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.

[entrez-6] "Entrez Gene: LRSAM1 leucine rich repeat and sterile alpha motif containing 1".

[pmid20865121-7] 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.

[pmid22012984-8] 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.

[pmid22781092-9] 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.

[pmid23519028-10] 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.

[pmid16189514-11] 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.

[pmid15256501-12] 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.

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LRSAM1

Contents

Clinical significance

Interactions

References

Further reading