SEL1L explained

Protein sel-1 homolog 1 is a protein that in humans is encoded by the SEL1L gene.^{[1] [2] [3] [4]}

Clinical relevance

A mutation in this gene in Finnish Hound dogs have been implicated in cases of cerebellar ataxia.^[5] Mutant cells suffer disruptions in their endoplasmic reticula, leading to disease.

References

Further reading

• Donoviel DB, Donoviel MS, Fan E, Hadjantonakis A, Bernstein A . Cloning and characterization of Sel-1l, a murine homolog of the C. elegans sel-1 gene. . Mech. Dev. . 78 . 1–2 . 203–7 . 1999 . 9858735 . 10.1016/S0925-4773(98)00146-4 . free .
• Harada Y, Ozaki K, Suzuki M, Fujiwara T, Takahashi E, Nakamura Y, Tanigami A . Complete cDNA sequence and genomic organization of a human pancreas-specific gene homologous to Caenorhabditis elegans sel-1 . J. Hum. Genet. . 44 . 5 . 330–6 . 1999 . 10496078 . 10.1007/s100380050171 . free .
• Biunno I, Bernard L, Dear P, Cattaneo M, Volorio S, Zannini L, Bankier A, Zollo M . SEL1L, the human homolog of C. elegans sel-1: refined physical mapping, gene structure and identification of polymorphic markers . Hum. Genet. . 106 . 2 . 227–35 . 2000 . 10746565 . 10.1007/s004390051032 . 2024-04-12 .
• Orlandi R, Cattaneo M, Troglio F, Casalini P, Ronchini C, Ménard S, Biunno I . SEL1L expression decreases breast tumor cell aggressiveness in vivo and in vitro . Cancer Res. . 62 . 2 . 567–74 . 2002 . 11809711 .
• Chiaramonte R, Sabbadini M, Balordi F, Comi P, Sherbet GV . Allele frequency of two intragenic microsatellite loci of SEL1L gene in Northern Italian population . Mol. Cell. Biochem. . 232 . 1–2 . 159–61 . 2003 . 12030374 . 10.1023/A:1014828829621 . 2434/7194 . 5947634 . free .
• Chiaramonte R, Calzavara E, Basile A, Comi P, Sherbet GV . Notch signal transduction is not regulated by SEL1L in leukaemia and lymphoma cells in culture . Anticancer Res. . 22 . 6C . 4211–4 . 2003 . 12553058 .
• Zhang H, Li XJ, Martin DB, Aebersold R . Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry . Nat. Biotechnol. . 21 . 6 . 660–6 . 2003 . 12754519 . 10.1038/nbt827 . 581283 .
• 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 . 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 . 2003 . 12975309 . 403697 . 10.1101/gr.1293003 .
• Cattaneo M, Canton C, Albertini A, Biunno I . Identification of a region within SEL1L protein required for tumour growth inhibition . Gene . 326 . 149–56 . 2004 . 14729273 . 10.1016/j.gene.2003.10.021 .
• Lilley BN, Ploegh HL . Multiprotein complexes that link dislocation, ubiquitination, and extraction of misfolded proteins from the endoplasmic reticulum membrane . Proc. Natl. Acad. Sci. U.S.A. . 102 . 40 . 14296–301 . 2006 . 16186509 . 1242303 . 10.1073/pnas.0505014102 . free .
• Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T . Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries . DNA Res. . 12 . 2 . 117–26 . 2007 . 16303743 . 10.1093/dnares/12.2.117 . free .
• Cattaneo M, Fontanella E, Canton C, Delia D, Biunno I . SEL1L affects human pancreatic cancer cell cycle and invasiveness through modulation of PTEN and genes related to cell-matrix interactions . Neoplasia . 7 . 11 . 1030–8 . 2006 . 16331889 . 1502024 . 10.1593/neo.05451 .
• Saltini G, Dominici R, Lovati C, Cattaneo M, Michelini S, Malferrari G, Caprera A, Milanesi L, Finazzi D, Bertora P, Scarpini E, Galimberti D, Venturelli E, Musicco M, Adorni F, Mariani C, Biunno I . A novel polymorphism in SEL1L confers susceptibility to Alzheimer's disease . Neurosci. Lett. . 398 . 1–2 . 53–8 . 2006 . 16412574 . 10.1016/j.neulet.2005.12.038 . 12763857 .

Notes and References

1. Biunno I, Appierto V, Cattaneo M, Leone BE, Balzano G, Socci C, Saccone S, Letizia A, Della Valle G, Sgaramella V . Isolation of a pancreas-specific gene located on human chromosome 14q31: expression analysis in human pancreatic ductal carcinomas . Genomics . 46 . 2 . 284–6 . Feb 1998 . 9417916 . 10.1006/geno.1997.5018 .
2. Donoviel DB, Bernstein A . SEL-1L maps to human chromosome 14, near the insulin-dependent diabetes mellitus locus 11 . Genomics . 56 . 2 . 232–3 . Apr 1999 . 10051412 . 10.1006/geno.1998.5534 .
3. Biunno I, Cattaneo M, Orlandi R, Canton C, Biagiotti L, Ferrero S, Barberis M, Pupa SM, Scarpa A, Ménard S . SEL1L a multifaceted protein playing a role in tumor progression . J Cell Physiol . 208 . 1 . 23–38 . May 2006 . 16331677 . 10.1002/jcp.20574 . free .
4. Web site: Entrez Gene: SEL1L sel-1 suppressor of lin-12-like (C. elegans).
5. Kyöstilä K, Cizinauskas S, Seppälä EH, Suhonen E, Jeserevics J, Sukura A, Syrjä P, Lohi H . A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery . PLOS Genetics . 8 . 6 . e1002759 . 2012 . 22719266 . 10.1371/journal.pgen.1002759 . 3375262 . free .