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Sil1 Gene Detail
Summary
  • Symbol
    Sil1
  • Name
    endoplasmic reticulum chaperone SIL1 homolog (S. cerevisiae)
  • Synonyms
    1810057E01Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1932040
    NCBI Gene: 81500
  • Gene Overview
    MyGene.info: SIL1
Location & Maps
more
  • Sequence Map
    Chr18:35266400-35498925 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      232526 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SIL1, SIL1 nucleotide exchange factor
  • Vertebrate Orthologs
    11
  • Human Ortholog
    SIL1, SIL1 nucleotide exchange factor
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BAP, MSS, ULG5
  • Links
    NCBI Gene ID: 64374
    neXtProt AC: NX_Q9H173

  • Chr Location
    5q31; chr5:138946720-139198376 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 32544
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;2 zebrafish
  • HCOP
    human homology predictions: SIL1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Sil1 mouse models; 1 with human SIL1 associations

Human Disease Mouse Models
       Marinesco-Sjogren Syndrome; MSS   OMIM: 248800 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 2 alleles in 4 genetic backgrounds
    6 phenotypes from multigenic genotypes
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    22
  • Gene trapped
    19
  • Spontaneous
    1
  • Targeted
    2
  • Incidental Mutations
Mice homozygous for a gene trapped allele or spontaneous mutation exhibit ataxia and Purkinje cell degeneration.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000024357 Ensembl Gene Model | MGI Sequence Detail 232526 C57BL/6J ±  kb
transcript ENSMUST00000025215 Ensembl | MGI Sequence Detail 1695 Not Applicable  
polypeptide ENSMUSP00000025215 Ensembl | MGI Sequence Detail 465 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    1194 from dbSNP Build 142
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000014873 nucleotide exchange factor SIL1
  • InterPro Domains
    IPR011989 Armadillo-like helical
    IPR016024 Armadillo-type fold
    IPR013918 Nucleotide exchange factor Fes1
Molecular
Reagents
less
  • All nucleic 67
    cDNA 67

    Microarray probesets 2
Other
Accession IDs
less
MGI:1923775, MGI:2147193, MGI:2182806
References
more
  • Summaries
    All 32
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 3
    Phenotypes 10
  • Earliest
    J:66100 Tyson JR, et al., LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum. EMBO J. 2000 Dec 1;19(23):6440-52
  • Latest
    J:226867 Ichhaporia VP, et al., Sil1, a nucleotide exchange factor for BiP, is not required for antibody assembly or secretion. Mol Biol Cell. 2015 Feb 1;26(3):420-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory