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; OMA:SEL1L - orthologs
Gene location (Human)
Chr.	Chromosome 14 (human)
End	81,533,853 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	91,815,931 bp
RNA expression pattern
	Top expressed in
	body of pancreas; ; epithelium of colon; ; bone marrow cells; ; pericardium; ; decidua; ; cardia; ; pylorus; ; islet of Langerhans; ; jejunal mucosa; ; mucosa of ileum;
	Top expressed in
	submandibular gland; ; lacrimal gland; ; parotid gland; ; cumulus cell; ; Paneth cell; ; vestibular membrane of cochlear duct; ; pancreas; ; internal carotid artery; ; Rostral migratory stream; ; epithelium of stomach;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	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
	6400
	20338
	ENSG00000071537
	ENSMUSG00000020964
	Q9UBV2
	Q9Z2G6
	NM_001244984; NM_005065
	NM_001039089; NM_011344
	NP_001231913; NP_005056
	NP_001034178; NP_035474
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000071537 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020964 – 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.
^ 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.
^ 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, 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.
^ "Entrez Gene: SEL1L sel-1 suppressor of lin-12-like (C. elegans)".
^ 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.

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 (inactive 1 November 2024). PMID 10746565.{{cite journal}}: CS1 maint: DOI inactive as of November 2024 (link)
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. S2CID 5947634.
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. S2CID 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 (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. S2CID 12763857.

This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000071537 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9417916-5] 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.

[pmid10051412-6] 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.

[pmid16331677-7] 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.

[entrez-8] "Entrez Gene: SEL1L sel-1 suppressor of lin-12-like (C. elegans)".

[doi.10.1371/journal.pgen.1002759-9] 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.

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Clinical relevance

References

Further reading