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

    Gene ID: 81500, updated on 12-May-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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    See Sil1 in Genome Data Viewer
    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.
    Submit: New GeneRIF Correction

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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