SEL1L
| Sel-1 suppressor of lin-12-like (C. elegans) | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | SEL1L ; PRO1063; SEL1-LIKE; SEL1L1 | ||||||||||||
| External IDs | OMIM: 602329 MGI: 1329016 HomoloGene: 31286 GeneCards: SEL1L Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 6400 | 20338 | |||||||||||
| Ensembl | ENSG00000071537 | ENSMUSG00000020964 | |||||||||||
| UniProt | Q9UBV2 | Q9Z2G6 | |||||||||||
| RefSeq (mRNA) | NM_001244984 | NM_001039089 | |||||||||||
| RefSeq (protein) | NP_001231913 | NP_001034178 | |||||||||||
| Location (UCSC) | Chr 14: 81.94 – 82 Mb | Chr 12: 91.81 – 91.85 Mb | |||||||||||
| PubMed search | |||||||||||||
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
- ↑ Biunno I, Appierto V, Cattaneo M, Leone BE, Balzano G, Socci C et al. (Feb 1998). "Isolation of a pancreas-specific gene located on human chromosome 14q31: expression analysis in human pancreatic ductal carcinomas". Genomics 46 (2): 284–6. doi:10.1006/geno.1997.5018. PMID 9417916.
- ↑ Donoviel DB, Bernstein A (Apr 1999). "SEL-1L maps to human chromosome 14, near the insulin-dependent diabetes mellitus locus 11". Genomics 56 (2): 232–3. doi:10.1006/geno.1998.5534. PMID 10051412.
- ↑ Biunno I, Cattaneo M, Orlandi R, Canton C, Biagiotti L, Ferrero S et al. (May 2006). "SEL1L a multifaceted protein playing a role in tumor progression". J Cell Physiol 208 (1): 23–38. doi:10.1002/jcp.20574. PMID 16331677.
- ↑ "Entrez Gene: SEL1L sel-1 suppressor of lin-12-like (C. elegans)".
- ↑ Kyöstilä K, Cizinauskas S, Seppälä EH, Suhonen E, Jeserevics J, Sukura A et al. (2012). "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. doi:10.1371/journal.pgen.1002759. PMID 22719266. Vancouver style error (help)
Further reading
- Donoviel DB, Donoviel MS, Fan E, Hadjantonakis A, Bernstein A (1999). "Cloning and characterization of Sel-1l, a murine homolog of the C. elegans sel-1 gene.". Mech. Dev. 78 (1–2): 203–7. doi:10.1016/S0925-4773(98)00146-4. PMID 9858735.
- Harada Y, Ozaki K, Suzuki M, Fujiwara T, Takahashi E, Nakamura Y et al. (1999). "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. doi:10.1007/s100380050171. PMID 10496078.
- Biunno I, Bernard L, Dear P, Cattaneo M, Volorio S, Zannini L et al. (2000). "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. doi:10.1007/s004390051032. PMID 10746565.
- Orlandi R, Cattaneo M, Troglio F, Casalini P, Ronchini C, Ménard S et al. (2002). "SEL1L expression decreases breast tumor cell aggressiveness in vivo and in vitro". Cancer Res. 62 (2): 567–74. PMID 11809711. Vancouver style error (help)
- Chiaramonte R, Sabbadini M, Balordi F, Comi P, Sherbet GV (2003). "Allele frequency of two intragenic microsatellite loci of SEL1L gene in Northern Italian population". Mol. Cell. Biochem. 232 (1–2): 159–61. doi:10.1023/A:1014828829621. PMID 12030374.
- Chiaramonte R, Calzavara E, Basile A, Comi P, Sherbet GV (2003). "Notch signal transduction is not regulated by SEL1L in leukaemia and lymphoma cells in culture". Anticancer Res. 22 (6C): 4211–4. PMID 12553058.
- Zhang H, Li XJ, Martin DB, Aebersold R (2003). "Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry". Nat. Biotechnol. 21 (6): 660–6. doi:10.1038/nbt827. PMID 12754519.
- Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J et al. (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.
- Cattaneo M, Canton C, Albertini A, Biunno I (2004). "Identification of a region within SEL1L protein required for tumour growth inhibition". Gene 326: 149–56. doi:10.1016/j.gene.2003.10.021. PMID 14729273.
- Lilley BN, Ploegh HL (2006). "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. doi:10.1073/pnas.0505014102. PMC 1242303. PMID 16186509.
- Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J et al. (2007). "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. doi:10.1093/dnares/12.2.117. PMID 16303743.
- Cattaneo M, Fontanella E, Canton C, Delia D, Biunno I (2006). "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. doi:10.1593/neo.05451. PMC 1502024. PMID 16331889.
- Saltini G, Dominici R, Lovati C, Cattaneo M, Michelini S, Malferrari G et al. (2006). "A novel polymorphism in SEL1L confers susceptibility to Alzheimer's disease". Neurosci. Lett. 398 (1–2): 53–8. doi:10.1016/j.neulet.2005.12.038. PMID 16412574.