SEL1L

SEL1L
Identifiers
Aliases	SEL1L , PRO1063, SEL1-LIKE, SEL1L1, SEL1L ERAD E3 ligase adaptor subunit, ERAD E3 ligase adaptor subunit, Hrd3, SEL1L adaptor subunit of ERAD E3 ubiquitin ligase
External IDs	OMIM: 602329 MGI: 1329016 HomoloGene: 31286 GeneCards: SEL1L
Gene location (Human) Chr. Chromosome 14 (human) [1] Band 14q31.1 Start 81,471,547 bp [1] End 81,533,853 bp [1]
Gene location (Mouse) Chr. Chromosome 12 (mouse) [2] Band 12|12 D3 Start 91,806,043 bp [2] End 91,849,157 bp [2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • integral component of membrane • Hrd1p ubiquitin ligase complex • endoplasmic reticulum membrane • Derlin-1 retrotranslocation complex • membrane • endoplasmic reticulum • endoplasmic reticulum quality control compartment • Hrd1p ubiquitin ligase ERAD-L complex Biological process • Notch signaling pathway • protein stabilization • retrograde protein transport, ER to cytosol • ubiquitin-dependent ERAD pathway • response to endoplasmic reticulum stress • endoplasmic reticulum mannose trimming • triglyceride metabolic process • protein secretion • ERAD pathway • transmembrane transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6400	20338
Ensembl	ENSG00000071537	ENSMUSG00000020964
UniProt	Q9UBV2	Q9Z2G6
RefSeq (mRNA)	NM_001244984 NM_005065	NM_001039089 NM_011344
RefSeq (protein)	NP_001231913 NP_005056	NP_001034178 NP_035474
Location (UCSC)	Chr 14: 81.47 – 81.53 Mb	Chr 12: 91.81 – 91.85 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Protein sel-1 homolog 1 is a protein that in humans is encoded by the SEL1L gene. ^{[5] [6] [7] [8]}

Clinical relevance

A mutation in this gene in Finnish Hound dogs have been implicated in cases of cerebellar ataxia. ^[9] Mutant cells suffer disruptions in their endoplasmic reticula, leading to disease.

References

1. GRCh38: Ensembl release 89: ENSG00000071537 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020964 - 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. Biunno I, Appierto V, Cattaneo M, Leone BE, Balzano G, Socci C, Saccone S, Letizia A, Della Valle G, Sgaramella V (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.
6. 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.
7. Biunno I, Cattaneo M, Orlandi R, Canton C, Biagiotti L, Ferrero S, Barberis M, Pupa SM, Scarpa A, Ménard S (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.
8. "Entrez Gene: SEL1L sel-1 suppressor of lin-12-like (C. elegans)".
9. Kyöstilä K, Cizinauskas S, Seppälä EH, Suhonen E, Jeserevics J, Sukura A, Syrjä P, Lohi H (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. PMC   3375262 . PMID   22719266.

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, Tanigami A (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, Bankier A, Zollo M (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, Biunno I (2002). "SEL1L expression decreases breast tumor cell aggressiveness in vivo and in vitro". Cancer Res. 62 (2): 567–74. PMID   11809711.
• 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. hdl: 2434/7194 . 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, 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 (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, 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 (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, Caprera A, Milanesi L, Finazzi D, Bertora P, Scarpini E, Galimberti D, Venturelli E, Musicco M, Adorni F, Mariani C, Biunno I (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.