SIL1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
SIL1
Identifiers
Aliases SIL1, BAP, MSS, ULG5, SIL1 nucleotide exchange factor
External IDs MGI: 1932040 HomoloGene: 32544 GeneCards: SIL1
RNA expression pattern
PBB GE SIL1 218436 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001037633
NM_022464

NM_030749

RefSeq (protein)

NP_001032722
NP_071909

NP_109674.2
NP_109674

Location (UCSC) Chr 5: 138.95 – 139.29 Mb Chr 18: 35.27 – 35.5 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Nucleotide exchange factor SIL1 is a protein that in humans is encoded by the SIL1 gene.[3][4][5][6]

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.[6]

Interactions[edit]

SIL1 has been shown to interact with Binding immunoglobulin protein.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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 305876Freely accessible. PMID 11101517. 
  4. ^ a b 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. 
  5. ^ 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. 
  6. ^ a b "Entrez Gene: SIL1 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)". 

External links[edit]

Further reading[edit]