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{{Infobox_gene}}
{{PBB_Controls
'''Protein sel-1 homolog 1''' is a [[protein]] that in humans is encoded by the ''SEL1L'' [[gene]].<ref name="pmid9417916">{{cite journal | vauthors = Biunno I, Appierto V, Cattaneo M, Leone BE, Balzano G, Socci C, Saccone S, Letizia A, Della Valle G, Sgaramella V | title = Isolation of a pancreas-specific gene located on human chromosome 14q31: expression analysis in human pancreatic ductal carcinomas | journal = Genomics | volume = 46 | issue = 2 | pages = 284–6 | date = Feb 1998 | pmid = 9417916 | pmc =  | doi = 10.1006/geno.1997.5018 }}</ref><ref name="pmid10051412">{{cite journal | vauthors = Donoviel DB, Bernstein A | title = SEL-1L maps to human chromosome 14, near the insulin-dependent diabetes mellitus locus 11 | journal = Genomics | volume = 56 | issue = 2 | pages = 232–3 | date = Apr 1999 | pmid = 10051412 | pmc =  | doi = 10.1006/geno.1998.5534 }}</ref><ref name="pmid16331677">{{cite journal | vauthors = Biunno I, Cattaneo M, Orlandi R, Canton C, Biagiotti L, Ferrero S, Barberis M, Pupa SM, Scarpa A, Ménard S | title = SEL1L a multifaceted protein playing a role in tumor progression | journal = J Cell Physiol | volume = 208 | issue = 1 | pages = 23–38 | date = May 2006 | pmid = 16331677 | pmc = | doi = 10.1002/jcp.20574 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SEL1L sel-1 suppressor of lin-12-like (C. elegans)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6400| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
==Clinical relevance==
{{GNF_Protein_box
A mutation in this gene in [[Finnish Hound]] dogs have been implicated in cases of [[cerebellar ataxia]].<ref name="doi.10.1371/journal.pgen.1002759">{{cite journal | vauthors = Kyöstilä K, Cizinauskas S, Seppälä EH, Suhonen E, Jeserevics J, Sukura A, Syrjä P, Lohi H | title = A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery | journal = PLoS Genetics | volume = 8 | issue = 6 | pages = e1002759 | year = 2012 | pmid = 22719266 | doi = 10.1371/journal.pgen.1002759 | pmc=3375262}}</ref> Mutant cells suffer disruptions in their [[endoplasmic reticula]], leading to disease.
| image =
| image_source =
| PDB =  
| Name = Sel-1 suppressor of lin-12-like (C. elegans)
| HGNCid = 10717
| Symbol = SEL1L
| AltSymbols =; IBD2; PRO1063; SEL1-LIKE
| OMIM = 602329
| ECnumber = 
| Homologene = 31286
| MGIid = 1329016
| GeneAtlas_image1 = PBB_GE_SEL1L_202061_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_SEL1L_202062_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_SEL1L_202063_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005488 |text = binding}}
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0007219 |text = Notch signaling pathway}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6400
    | Hs_Ensembl = ENSG00000071537
    | Hs_RefseqProtein = NP_005056
    | Hs_RefseqmRNA = NM_005065
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 14
    | Hs_GenLoc_start = 81007646
    | Hs_GenLoc_end = 81069886
    | Hs_Uniprot = Q9UBV2
    | Mm_EntrezGene = 20338
    | Mm_Ensembl = ENSMUSG00000020964
    | Mm_RefseqmRNA = NM_001039089
    | Mm_RefseqProtein = NP_001034178
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 12
    | Mm_GenLoc_start = 92211600
    | Mm_GenLoc_end = 92254714
    | Mm_Uniprot = Q3TT70
  }}
}}
'''Sel-1 suppressor of lin-12-like (C. elegans)''', also known as '''SEL1L''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SEL1L sel-1 suppressor of lin-12-like (C. elegans)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6400| accessdate = }}</ref>


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== References ==
{{PBB_Summary
{{reflist}}
| section_title =
{{Clear}}
| summary_text =
}}


==References==
== Further reading ==
{{reflist|2}}
{{refbegin|35em}}
==Further reading==
* {{cite journal | vauthors = Donoviel DB, Donoviel MS, Fan E, Hadjantonakis A, Bernstein A | title = Cloning and characterization of Sel-1l, a murine homolog of the C. elegans sel-1 gene. | journal = Mech. Dev. | volume = 78 | issue = 1–2 | pages = 203–7 | year = 1999 | pmid = 9858735 | doi = 10.1016/S0925-4773(98)00146-4 }}
{{refbegin | 2}}
* {{cite journal | vauthors = Harada Y, Ozaki K, Suzuki M, Fujiwara T, Takahashi E, Nakamura Y, Tanigami A | title = Complete cDNA sequence and genomic organization of a human pancreas-specific gene homologous to Caenorhabditis elegans sel-1 | journal = J. Hum. Genet. | volume = 44 | issue = 5 | pages = 330–6 | year = 1999 | pmid = 10496078 | doi = 10.1007/s100380050171 }}
{{PBB_Further_reading
* {{cite journal | vauthors = Biunno I, Bernard L, Dear P, Cattaneo M, Volorio S, Zannini L, Bankier A, Zollo M | title = SEL1L, the human homolog of C. elegans sel-1: refined physical mapping, gene structure and identification of polymorphic markers | journal = Hum. Genet. | volume = 106 | issue = 2 | pages = 227–35 | year = 2000 | pmid = 10746565 | doi = 10.1007/s004390051032 }}
| citations =
* {{cite journal | vauthors = Orlandi R, Cattaneo M, Troglio F, Casalini P, Ronchini C, Ménard S, Biunno I | title = SEL1L expression decreases breast tumor cell aggressiveness in vivo and in vitro | journal = Cancer Res. | volume = 62 | issue = 2 | pages = 567–74 | year = 2002 | pmid = 11809711 | doi =  }}
*{{cite journal | author=Biunno I, Cattaneo M, Orlandi R, ''et al.'' |title=SEL1L a multifaceted protein playing a role in tumor progression. |journal=J. Cell. Physiol. |volume=208 |issue= 1 |pages= 23-38 |year= 2006 |pmid= 16331677 |doi= 10.1002/jcp.20574 }}
* {{cite journal | vauthors = Chiaramonte R, Sabbadini M, Balordi F, Comi P, Sherbet GV | title = Allele frequency of two intragenic microsatellite loci of SEL1L gene in Northern Italian population | journal = Mol. Cell. Biochem. | volume = 232 | issue = 1–2 | pages = 159–61 | year = 2003 | pmid = 12030374 | doi = 10.1023/A:1014828829621 }}
*{{cite journal  | author=Biunno I, Appierto V, Cattaneo M, ''et al.'' |title=Isolation of a pancreas-specific gene located on human chromosome 14q31: expression analysis in human pancreatic ductal carcinomas. |journal=Genomics |volume=46 |issue= 2 |pages= 284-6 |year= 1998 |pmid= 9417916 |doi=  }}
* {{cite journal | vauthors = Chiaramonte R, Calzavara E, Basile A, Comi P, Sherbet GV | title = Notch signal transduction is not regulated by SEL1L in leukaemia and lymphoma cells in culture | journal = Anticancer Res. | volume = 22 | issue = 6C | pages = 4211–4 | year = 2003 | pmid = 12553058 | doi =  }}
*{{cite journal  | author=Donoviel DB, Donoviel MS, Fan E, ''et al.'' |title=Cloning and characterization of Sel-1l, a murine homolog of the C. elegans sel-1 gene. |journal=Mech. Dev. |volume=78 |issue= 1-2 |pages= 203-7 |year= 1999 |pmid= 9858735 |doi=  }}
* {{cite journal | vauthors = Zhang H, Li XJ, Martin DB, Aebersold R | title = Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry | journal = Nat. Biotechnol. | volume = 21 | issue = 6 | pages = 660–6 | year = 2003 | pmid = 12754519 | doi = 10.1038/nbt827 }}
*{{cite journal  | author=Donoviel DB, Bernstein A |title=SEL-1L maps to human chromosome 14, near the insulin-dependent diabetes mellitus locus 11. |journal=Genomics |volume=56 |issue= 2 |pages= 232-3 |year= 1999 |pmid= 10051412 |doi= 10.1006/geno.1998.5534 }}
* {{cite journal | vauthors = 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 | title = The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment | journal = Genome Res. | volume = 13 | issue = 10 | pages = 2265–70 | year = 2003 | pmid = 12975309 | pmc = 403697 | doi = 10.1101/gr.1293003 }}
*{{cite journal | author=Harada Y, Ozaki K, Suzuki M, ''et al.'' |title=Complete cDNA sequence and genomic organization of a human pancreas-specific gene homologous to Caenorhabditis elegans sel-1. |journal=J. Hum. Genet. |volume=44 |issue= 5 |pages= 330-6 |year= 1999 |pmid= 10496078 |doi= }}
* {{cite journal | vauthors = Cattaneo M, Canton C, Albertini A, Biunno I | title = Identification of a region within SEL1L protein required for tumour growth inhibition | journal = Gene | volume = 326 | issue =  | pages = 149–56 | year = 2004 | pmid = 14729273 | doi = 10.1016/j.gene.2003.10.021 }}
*{{cite journal | author=Biunno I, Bernard L, Dear P, ''et al.'' |title=SEL1L, the human homolog of C. elegans sel-1: refined physical mapping, gene structure and identification of polymorphic markers. |journal=Hum. Genet. |volume=106 |issue= 2 |pages= 227-35 |year= 2000 |pmid= 10746565 |doi= }}
* {{cite journal | vauthors = Lilley BN, Ploegh HL | title = Multiprotein complexes that link dislocation, ubiquitination, and extraction of misfolded proteins from the endoplasmic reticulum membrane | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 102 | issue = 40 | pages = 14296–301 | year = 2006 | pmid = 16186509 | pmc = 1242303 | doi = 10.1073/pnas.0505014102 }}
*{{cite journal | author=Orlandi R, Cattaneo M, Troglio F, ''et al.'' |title=SEL1L expression decreases breast tumor cell aggressiveness in vivo and in vitro. |journal=Cancer Res. |volume=62 |issue= 2 |pages= 567-74 |year= 2002 |pmid= 11809711 |doi=  }}
* {{cite journal | vauthors = 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 | title = Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries | journal = DNA Res. | volume = 12 | issue = 2 | pages = 117–26 | year = 2007 | pmid = 16303743 | doi = 10.1093/dnares/12.2.117 }}
*{{cite journal | author=Chiaramonte R, Sabbadini M, Balordi F, ''et al.'' |title=Allele frequency of two intragenic microsatellite loci of SEL1L gene in Northern Italian population. |journal=Mol. Cell. Biochem. |volume=232 |issue= 1-2 |pages= 159-61 |year= 2003 |pmid= 12030374 |doi=  }}
* {{cite journal | vauthors = Cattaneo M, Fontanella E, Canton C, Delia D, Biunno I | title = SEL1L affects human pancreatic cancer cell cycle and invasiveness through modulation of PTEN and genes related to cell-matrix interactions | journal = Neoplasia | volume = 7 | issue = 11 | pages = 1030–8 | year = 2006 | pmid = 16331889 | pmc = 1502024 | doi = 10.1593/neo.05451 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = 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 | title = A novel polymorphism in SEL1L confers susceptibility to Alzheimer's disease | journal = Neurosci. Lett. | volume = 398 | issue = 1–2 | pages = 53–8 | year = 2006 | pmid = 16412574 | doi = 10.1016/j.neulet.2005.12.038 }}
*{{cite journal | author=Chiaramonte R, Calzavara E, Basile A, ''et al.'' |title=Notch signal transduction is not regulated by SEL1L in leukaemia and lymphoma cells in culture. |journal=Anticancer Res. |volume=22 |issue= 6C |pages= 4211-4 |year= 2003 |pmid= 12553058 |doi=  }}
*{{cite journal | author=Zhang H, Li XJ, Martin DB, Aebersold R |title=Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. |journal=Nat. Biotechnol. |volume=21 |issue= 6 |pages= 660-6 |year= 2003 |pmid= 12754519 |doi= 10.1038/nbt827 }}
*{{cite journal | author=Clark HF, Gurney AL, Abaya E, ''et al.'' |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265-70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 }}
*{{cite journal | author=Cattaneo M, Canton C, Albertini A, Biunno I |title=Identification of a region within SEL1L protein required for tumour growth inhibition. |journal=Gene |volume=326 |issue=  |pages= 149-56 |year= 2004 |pmid= 14729273 |doi= }}
*{{cite journal | author=Lilley BN, Ploegh HL |title=Multiprotein complexes that link dislocation, ubiquitination, and extraction of misfolded proteins from the endoplasmic reticulum membrane. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=102 |issue= 40 |pages= 14296-301 |year= 2006 |pmid= 16186509 |doi= 10.1073/pnas.0505014102 }}
*{{cite journal | author=Otsuki T, Ota T, Nishikawa T, ''et al.'' |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. |journal=DNA Res. |volume=12 |issue= 2 |pages= 117-26 |year= 2007 |pmid= 16303743 |doi= 10.1093/dnares/12.2.117 }}
*{{cite journal | author=Cattaneo M, Fontanella E, Canton C, ''et al.'' |title=SEL1L affects human pancreatic cancer cell cycle and invasiveness through modulation of PTEN and genes related to cell-matrix interactions. |journal=Neoplasia |volume=7 |issue= 11 |pages= 1030-8 |year= 2006 |pmid= 16331889 |doi= }}
*{{cite journal | author=Saltini G, Dominici R, Lovati C, ''et al.'' |title=A novel polymorphism in SEL1L confers susceptibility to Alzheimer's disease. |journal=Neurosci. Lett. |volume=398 |issue= 1-2 |pages= 53-8 |year= 2006 |pmid= 16412574 |doi= 10.1016/j.neulet.2005.12.038 }}
}}
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{{refend}}


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Latest revision as of 06:05, 11 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ "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 (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


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