SIL1

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

SIL1
Identifiers
AliasesSIL1, BAP, MSS, ULG5, SIL1 nucleotide exchange factor
External IDsOMIM: 608005 MGI: 1932040 HomoloGene: 32544 GeneCards: SIL1
Gene location (Human)
Chr.Chromosome 5 (human)[1]
Band5q31.2Start138,946,724 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

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. GRCh38: Ensembl release 89: ENSG00000120725 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000024357 - 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. 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. 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. S2CID 28860307.
  8. "Entrez Gene: SIL1 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)".

Further reading


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