SIL1: Difference between revisions

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{{Infobox_gene}}
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'''Nucleotide exchange factor SIL1''' is a [[protein]] that in humans is encoded by the ''SIL1'' [[gene]].<ref name="pmid11101517">{{cite journal | vauthors = Tyson JR, Stirling CJ | title = LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum | journal = EMBO J | volume = 19 | issue = 23 | pages = 6440–52 |date=Dec 2000 | pmid = 11101517 | pmc = 305876 | doi = 10.1093/emboj/19.23.6440 }}</ref><ref name="pmid12356756">{{cite journal | vauthors = Chung KT, Shen Y, Hendershot LM | title = BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP | journal = J Biol Chem | volume = 277 | issue = 49 | pages = 47557–63 |date=Nov 2002 | pmid = 12356756 | pmc = | doi = 10.1074/jbc.M208377200 }}</ref><ref name="pmid16282977">{{cite journal | vauthors = Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schoneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schroder JM, Lochmuller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K | title = Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy | journal = Nat Genet | volume = 37 | issue = 12 | pages = 1312–4 |date=Nov 2005 | pmid = 16282977 | pmc =  | doi = 10.1038/ng1678 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SIL1 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64374| accessdate = }}</ref>
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{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)
| HGNCid = 24624
| Symbol = SIL1
| AltSymbols =; BAP
| OMIM = 608005
| ECnumber =
| Homologene = 32544
| MGIid = 1932040
| GeneAtlas_image1 = PBB_GE_SIL1_218436_at_tn.png
| Function = {{GNF_GO|id=GO:0005488 |text = binding}} {{GNF_GO|id=GO:0051082 |text = unfolded protein binding}}
| Component = {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}}
| Process = {{GNF_GO|id=GO:0006457 |text = protein folding}} {{GNF_GO|id=GO:0006605 |text = protein targeting}}  
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 64374
    | Hs_Ensembl = ENSG00000120725
    | Hs_RefseqProtein = NP_001032722
    | Hs_RefseqmRNA = NM_001037633
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 5
    | Hs_GenLoc_start = 138310342
    | Hs_GenLoc_end = 138561904
    | Hs_Uniprot = Q9H173
    | Mm_EntrezGene = 81500
    | Mm_Ensembl = ENSMUSG00000024357
    | Mm_RefseqmRNA = NM_030749
    | Mm_RefseqProtein = NP_109674
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 18
    | Mm_GenLoc_start = 35392372
    | Mm_GenLoc_end = 35624876
    | Mm_Uniprot = Q9EPK6
  }}
}}
'''SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)''', also known as '''SIL1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SIL1 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64374| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =
| summary_text = This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized.<ref name="entrez">{{cite web | title = Entrez Gene: SIL1 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64374| accessdate = }}</ref>
| summary_text = This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with [[Marinesco-Sjogren syndrome]]. Alternate transcriptional splice variants have been characterized.<ref name="entrez"/>
}}
}}
==Interactions==
SIL1 has been shown to [[Protein-protein interaction|interact]] with [[Binding immunoglobulin protein]].<ref name=pmid12356756 />


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mss  GeneReviews/NCBI/NIH/UW entry on Marinesco-Sjögren Syndrome]
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading
| citations =  
| citations =
*{{cite journal  | author=Keats B, Ott J, Conneally M |title=Report of the committee on linkage and gene order. |journal=Cytogenet. Cell Genet. |volume=51 |issue= 1-4 |pages= 459-502 |year= 1989 |pmid= 2791656 |doi=  }}
*{{cite journal  | vauthors=Keats B, Ott J, Conneally M |title=Report of the committee on linkage and gene order. |journal=Cytogenet. Cell Genet. |volume=51 |issue= 1–4 |pages= 459–502 |year= 1989 |pmid= 2791656 |doi=10.1159/000132805 }}
*{{cite journal  | author=Tyson JR, Stirling CJ |title=LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum. |journal=EMBO J. |volume=19 |issue= 23 |pages= 6440-52 |year= 2001 |pmid= 11101517 |doi= 10.1093/emboj/19.23.6440 }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |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 | pmc=139241 }}
*{{cite journal | author=Chung KT, Shen Y, Hendershot LM |title=BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP. |journal=J. Biol. Chem. |volume=277 |issue= 49 |pages= 47557-63 |year= 2003 |pmid= 12356756 |doi= 10.1074/jbc.M208377200 }}
*{{cite journal   |vauthors=Clark HF, Gurney AL, Abaya E, etal |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 | pmc=403697 }}
*{{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=Lagier-Tourenne C, Tranebaerg L, Chaigne D, etal |title=Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31 |journal=Eur. J. Hum. Genet. |volume=11 |issue= 10 |pages= 770–8 |year= 2004 |pmid= 14512967 |doi= 10.1038/sj.ejhg.5201068 }}
*{{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   |vauthors=Colland F, Jacq X, Trouplin V, etal |title=Functional proteomics mapping of a human signaling pathway |journal=Genome Res. |volume=14 |issue= 7 |pages= 1324–32 |year= 2004 |pmid= 15231748 |doi= 10.1101/gr.2334104 | pmc=442148 }}
*{{cite journal | author=Lagier-Tourenne C, Tranebaerg L, Chaigne D, ''et al.'' |title=Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31. |journal=Eur. J. Hum. Genet. |volume=11 |issue= 10 |pages= 770-8 |year= 2004 |pmid= 14512967 |doi= 10.1038/sj.ejhg.5201068 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal | author=Colland F, Jacq X, Trouplin V, ''et al.'' |title=Functional proteomics mapping of a human signaling pathway. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1324-32 |year= 2004 |pmid= 15231748 |doi= 10.1101/gr.2334104 }}
*{{cite journal   |vauthors=Rual JF, Venkatesan K, Hao T, etal |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal   |vauthors=Anttonen AK, Mahjneh I, Hämäläinen RH, etal |title=The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone |journal=Nat. Genet. |volume=37 |issue= 12 |pages= 1309–11 |year= 2006 |pmid= 16282978 |doi= 10.1038/ng1677 }}
*{{cite journal | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
*{{cite journal   |vauthors=Otsuki T, Ota T, Nishikawa T, etal |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=Senderek J, Krieger M, Stendel C, ''et al.'' |title=Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. |journal=Nat. Genet. |volume=37 |issue= 12 |pages= 1312-4 |year= 2006 |pmid= 16282977 |doi= 10.1038/ng1678 }}
*{{cite journal   |vauthors=Karim MA, Parsian AJ, Cleves MA, etal |title=A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree |journal=Clin. Genet. |volume=70 |issue= 5 |pages= 420–3 |year= 2006 |pmid= 17026626 |doi= 10.1111/j.1399-0004.2006.00695.x }}
*{{cite journal  | author=Anttonen AK, Mahjneh I, Hämäläinen RH, ''et al.'' |title=The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. |journal=Nat. Genet. |volume=37 |issue= 12 |pages= 1309-11 |year= 2006 |pmid= 16282978 |doi= 10.1038/ng1677 }}
*{{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=Karim MA, Parsian AJ, Cleves MA, ''et al.'' |title=A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree. |journal=Clin. Genet. |volume=70 |issue= 5 |pages= 420-3 |year= 2006 |pmid= 17026626 |doi= 10.1111/j.1399-0004.2006.00695.x }}
}}
}}
{{refend}}
{{refend}}


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Latest revision as of 06:21, 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

Nucleotide exchange factor SIL1 is a protein that in humans is encoded by the SIL1 gene.[1][2][3][4]

This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized.[4]

Interactions

SIL1 has been shown to interact with Binding immunoglobulin protein.[2]

References

  1. ↑ Tyson JR, Stirling CJ (Dec 2000). "LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum". EMBO J. 19 (23): 6440–52. doi:10.1093/emboj/19.23.6440. PMC 305876. PMID 11101517.
  2. ↑ 2.0 2.1 Chung KT, Shen Y, Hendershot LM (Nov 2002). "BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP". J Biol Chem. 277 (49): 47557–63. doi:10.1074/jbc.M208377200. PMID 12356756.
  3. ↑ Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schoneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schroder JM, Lochmuller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K (Nov 2005). "Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy". Nat Genet. 37 (12): 1312–4. doi:10.1038/ng1678. PMID 16282977.
  4. ↑ 4.0 4.1 "Entrez Gene: SIL1 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)".

External links

Further reading



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