SIL1

SIL1
Identifiers
AliasesSIL1, BAP, MSS, ULG5, SIL1 nucleotide exchange factor
External IDsMGI: 1932040 HomoloGene: 32544 GeneCards: SIL1
Gene location (Human)
Chr.Chromosome 5 (human)[1]
Band5q31.2Start138,946,720 bp[1]
End139,293,557 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

64374

81500

Ensembl

ENSG00000120725

ENSMUSG00000024357

UniProt

Q9H173

Q9EPK6

RefSeq (mRNA)

NM_001037633
NM_022464

NM_030749
NM_001360814

RefSeq (protein)

NP_001032722
NP_071909

NP_109674
NP_001347743

Location (UCSC)Chr 5: 138.95 – 139.29 MbChr 18: 35.27 – 35.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Nucleotide exchange factor SIL1 is a protein that in humans is encoded by the SIL1 gene.[5][6][7][8]

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.[8]

Interactions

SIL1 has been shown to interact with Binding immunoglobulin protein.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000120725 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024357 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ 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.
  6. 1 2 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.
  7. ↑ 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.
  8. 1 2 "Entrez Gene: SIL1 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)".

Further reading

  • Keats B, Ott J, Conneally M (1989). "Report of the committee on linkage and gene order". Cytogenet. Cell Genet. 51 (1–4): 459–502. doi:10.1159/000132805. PMID 2791656.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Clark HF, Gurney AL, Abaya E, 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.
  • Lagier-Tourenne C, Tranebaerg L, Chaigne D, et al. (2004). "Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31". Eur. J. Hum. Genet. 11 (10): 770–8. doi:10.1038/sj.ejhg.5201068. PMID 14512967.
  • Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
  • Anttonen AK, Mahjneh I, Hämäläinen RH, et al. (2006). "The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone". Nat. Genet. 37 (12): 1309–11. doi:10.1038/ng1677. PMID 16282978.
  • Otsuki T, Ota T, Nishikawa T, 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.
  • Karim MA, Parsian AJ, Cleves MA, et al. (2006). "A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree". Clin. Genet. 70 (5): 420–3. doi:10.1111/j.1399-0004.2006.00695.x. PMID 17026626.


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