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Sil1 SIL1 nucleotide exchange factor [ Mus musculus (house mouse) ]

Gene ID: 81500, updated on 21-Apr-2024

Summary

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Official Symbol
Sil1provided by MGI
Official Full Name
SIL1 nucleotide exchange factorprovided by MGI
Primary source
MGI:MGI:1932040
See related
Ensembl:ENSMUSG00000024357 AllianceGenome:MGI:1932040
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
wz; 1810057E01Rik
Summary
Predicted to enable adenyl-nucleotide exchange factor activity and identical protein binding activity. Predicted to act upstream of or within protein transport. Located in endoplasmic reticulum. Is expressed in brain; chondrocranium; eye; pancreas; and testis. Human ortholog(s) of this gene implicated in primary cerebellar degeneration. Orthologous to human SIL1 (SIL1 nucleotide exchange factor). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 27.6), adrenal adult (RPKM 12.9) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
18 B1- B2; 18 18.97 cM
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (35399449..35632443, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (35266396..35499390, complement)

Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 46617 Neighboring gene catenin alpha 1 Neighboring gene STARR-seq mESC enhancer starr_44229 Neighboring gene leucine rich repeat transmembrane neuronal 2 Neighboring gene STARR-positive B cell enhancer ABC_E10985 Neighboring gene STARR-seq mESC enhancer starr_44230 Neighboring gene predicted gene, 57657 Neighboring gene STARR-seq mESC enhancer starr_44231 Neighboring gene predicted gene, 57820 Neighboring gene STARR-seq mESC enhancer starr_44232 Neighboring gene STARR-seq mESC enhancer starr_44236 Neighboring gene STARR-positive B cell enhancer ABC_E4244 Neighboring gene STARR-seq mESC enhancer starr_44237 Neighboring gene STARR-seq mESC enhancer starr_44238 Neighboring gene predicted gene, 41691 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Functional Role of SIL1 in Neurodevelopment and Learning. Xu S, et al. Neural Plast, 2019. PMID 31531014, Free PMC Article
  2. SIL1, the endoplasmic-reticulum-localized BiP co-chaperone, plays a crucial role in maintaining skeletal muscle proteostasis and physiology. Ichhaporia VP, et al. Dis Model Mech, 2018 May 10. PMID 29666155, Free PMC Article
  3. Longitudinal analysis of motor symptoms and histopathology in woozy mice, a model of cerebellar ataxia. Hayashi T, et al. Neuroreport, 2017 Sep 6. PMID 28723727
  4. Sil1-Mutant Mice Elucidate Chaperone Function in Neurological Disorders. Buchkremer S, et al. J Neuromuscul Dis, 2016 May 27. PMID 27854219, Free PMC Article
  5. Sil1, a nucleotide exchange factor for BiP, is not required for antibody assembly or secretion. Ichhaporia VP, et al. Mol Biol Cell, 2015 Feb 1. PMID 25473114, Free PMC Article

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SIL1 is required for the development of the central nervous system which is associated with its role in Reelin signaling.
    Title: Functional Role of SIL1 in Neurodevelopment and Learning.
  2. SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human. The data expand the spectrum of tissues affected by SIL1-loss and suggest that impaired neuromuscular transmission might be part of Marinesco-Sjogren Syndrome pathophysiology.
    Title: SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human.
  3. The protein but not the mRNA level of ORP150, a nucleotide exchange factor which can substitute for SIL1, was increased in the cerebellum of GSK2606414-treated woozy mice, suggesting that translational recovery promoted the synthesis of this alternative BiP co-factor
    Title: PERK inhibition delays neurodegeneration and improves motor function in a mouse model of Marinesco-Sjögren syndrome.
  4. these data reveal a disruption in endoplasmic reticulum homeostasis upon SIL1 loss, which is countered by multiple compensatory responses that are ultimately unsuccessful, leading to trans-organellar proteostasis collapse and myopathy.
    Title: SIL1, the endoplasmic-reticulum-localized BiP co-chaperone, plays a crucial role in maintaining skeletal muscle proteostasis and physiology.
  5. The carry a mutation in the Sil1 gene mice showed adult-onset ataxia with progressive neurodegeneration of the cerebellum. Homozygous wz mice might be useful as an animal model of diseases showing adult-onset ataxia because of cerebellar neurodegeneration.
    Title: Longitudinal analysis of motor symptoms and histopathology in woozy mice, a model of cerebellar ataxia.
  6. These results suggested the important roles of endoplasmic reticulum-related chaperons, Bip and SIL1, in Alzheimer's disease-like tau hyperphosphorylation.
    Title: SIL1 Rescued Bip Elevation-Related Tau Hyperphosphorylation in ER Stress.
  7. These results reveal a novel role for the nucleotide exchange factor SIL1 in pancreatic beta cell function under physiological and disease conditions such as diabetes and the metabolic syndrome.
    Title: The nucleotide exchange factor SIL1 is required for glucose-stimulated insulin secretion from mouse pancreatic beta cells in vivo.
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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables adenyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables adenyl-nucleotide exchange factor activity ISO
Inferred from Sequence Orthology
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
nucleotide exchange factor SIL1
Names
endoplasmic reticulum chaperone SIL1 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001360814.1 → NP_001347743.1  nucleotide exchange factor SIL1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC121874, AC147989, AC153145
    Consensus CDS
    CCDS29140.1
    UniProtKB/Swiss-Prot
    Q91V34, Q9EPK6
    UniProtKB/TrEMBL
    A0A494B9H1
    Conserved Domains (1) summary
    pfam08609
    Location:196 → 226
    Fes1; Nucleotide exchange factor Fes1

  2. NM_030749.2 → NP_109674.2  nucleotide exchange factor SIL1 precursor

    See identical proteins and their annotated locations for NP_109674.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    BP771607, BX512650, CO428760, CX219879
    Consensus CDS
    CCDS29140.1
    UniProtKB/Swiss-Prot
    Q91V34, Q9EPK6
    UniProtKB/TrEMBL
    A0A494B9H1
    Related
    ENSMUSP00000025215.9, ENSMUST00000025215.10
    Conserved Domains (1) summary
    pfam08609
    Location:196 → 226
    Fes1; Nucleotide exchange factor Fes1

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000084.7 Reference GRCm39 C57BL/6J

    Range
    35399449..35632443 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030250634.1 → XP_030106494.1  nucleotide exchange factor SIL1 isoform X1

    UniProtKB/Swiss-Prot
    Q91V34, Q9EPK6
    UniProtKB/TrEMBL
    A0A494B9H1

  2. XM_036161310.1 → XP_036017203.1  nucleotide exchange factor SIL1 isoform X1

    UniProtKB/Swiss-Prot
    Q91V34, Q9EPK6
    UniProtKB/TrEMBL
    A0A494B9H1

  3. XM_011247043.3 → XP_011245345.1  nucleotide exchange factor SIL1 isoform X1

    See identical proteins and their annotated locations for XP_011245345.1

    UniProtKB/Swiss-Prot
    Q91V34, Q9EPK6
    UniProtKB/TrEMBL
    A0A494B9H1
    Conserved Domains (1) summary
    pfam08609
    Location:196 → 226
    Fes1; Nucleotide exchange factor Fes1

  4. XM_006526365.4 → XP_006526428.1  nucleotide exchange factor SIL1 isoform X1

    See identical proteins and their annotated locations for XP_006526428.1

    UniProtKB/Swiss-Prot
    Q91V34, Q9EPK6
    UniProtKB/TrEMBL
    A0A494B9H1
    Conserved Domains (1) summary
    pfam08609
    Location:196 → 226
    Fes1; Nucleotide exchange factor Fes1

  5. XM_030250635.1 → XP_030106495.1  nucleotide exchange factor SIL1 isoform X2

    UniProtKB/TrEMBL
    A0A494B9B2

  6. XM_006526367.5 → XP_006526430.1  nucleotide exchange factor SIL1 isoform X3

    Conserved Domains (1) summary
    pfam08609
    Location:197 → 226
    Fes1; Nucleotide exchange factor Fes1
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9EPK6.2 GenPept UniProtKB/Swiss-Prot:Q9EPK6

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