About   Help   FAQ
Sil1 Gene Detail
Summary
  • Symbol
    Sil1
  • Name
    SIL1 nucleotide exchange factor
  • Synonyms
    1810057E01Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1932040
    NCBI Gene: 81500
  • Alliance
    genome feature page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:35399449-35632443 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 18.97 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4986 from dbSNP Build 142
  • Strain Annotations
    25
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1932040
 protein coding gene Chr18:35399449-35632833 (-)
129S1/SvImJ ENSMUSGG00200054406
 protein coding gene Chr18:32397988-32535076 (-)
129S1/SvImJ ENSMUSG00200040820
 protein coding gene Chr18:32549676-32570117 (-)
A/J ENSMUSGG00195054925
 protein coding gene Chr18:32564684-32701773 (-)
A/J ENSMUSG00195034383
 protein coding gene Chr18:32716371-32736812 (-)
AKR/J ENSMUSG00220017115
 protein coding gene Chr18:32692692-32713133 (-)
AKR/J ENSMUSGG00220054849
 protein coding gene Chr18:32541001-32678098 (-)
BALB/cJ ENSMUSGG00180055527
 protein coding gene Chr18:33014338-33151415 (-)
BALB/cJ ENSMUSG00180015540
 protein coding gene Chr18:33166012-33186453 (-)
C3H/HeJ ENSMUSGG00175055043
 protein coding gene Chr18:32521989-32659034 (-)
C57BL/6NJ ENSMUSGG00215055781
 protein coding gene Chr18:32268077-32405160 (-)
C57BL/6NJ ENSMUSG00215020842
 protein coding gene Chr18:32419754-32440189 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022106
 protein coding gene Chr18:32527152-32701991 (-)
CAST/EiJ no annotation
CBA/J ENSMUSGG00210054648
 protein coding gene Chr18:32556524-32693602 (-)
CBA/J ENSMUSG00210020000
 protein coding gene Chr18:32708197-32728614 (-)
DBA/2J ENSMUSG00185020359
 protein coding gene Chr18:32642731-32663185 (-)
DBA/2J ENSMUSGG00185057500
 protein coding gene Chr18:32491061-32628136 (-)
FVB/NJ ENSMUSG00205023221
 protein coding gene Chr18:32354569-32374997 (-)
FVB/NJ ENSMUSGG00205054188
 protein coding gene Chr18:32202897-32339974 (-)
JF1/MsJ no annotation
LP/J ENSMUSG00230042342
 protein coding gene Chr18:34746484-34766925 (-)
LP/J ENSMUSGG00230055515
 protein coding gene Chr18:34594811-34731890 (-)
NOD/ShiLtJ ENSMUSGG00190055069
 protein coding gene Chr18:32275808-32412847 (-)
NZO/HlLtJ ENSMUSGG00225055636
 protein coding gene Chr18:34499621-34636701 (-)
NZO/HlLtJ ENSMUSG00225046129
 protein coding gene Chr18:34651295-34671728 (-)
PWK/PhJ no annotation
SPRET/EiJ ENSMSPG00010018705
 protein coding gene Chr18:32832071-33075591 (-)
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    SIL1, SIL1 nucleotide exchange factor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SIL1, SIL1 nucleotide exchange factor
  • Synonyms
    BAP, MSS, ULG5
  • Links
    NCBI Gene ID: 64374
    UniProt: Q9H173

  • Chr Location
    5q31.2; chr5:138946720-139293557 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SIL1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 2 alleles in 4 genetic backgrounds
    6 phenotypes from multigenic genotypes
    21 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a gene trapped allele or spontaneous mutation exhibit ataxia and Purkinje cell degeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    11
  • GO References
    6
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    678
  • Tissues
    20
  • cDNA Data
    68
  • Literature Summary
    3
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 81500 NCBI Gene Model | MGI Sequence Detail 232995 C57BL/6J ±  kb
transcript NM_001360814 RefSeq | MGI Sequence Detail 3671 C57BL/6  
polypeptide Q9EPK6 UniProt | EBI | MGI Sequence Detail 465 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 68
    cDNA 68
    Antibodies 1

    Microarray probesets 2
Other
Accession IDs
less
MGI:1923775, MGI:2147193, MGI:2182806
References
more
  • Summaries
    All 48
    Developmental Gene Expression 3
    Gene Ontology 6
    Phenotypes 21
  • 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:388211 Bellia F, et al., Systemic AAV8-SIL1-TAT therapy improves motor function in a mouse model of Marinesco-Sjogren syndrome. Biochem Pharmacol. 2026 May 2;250(Pt 2):118014
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
09/08/2026
MGI 6.24 		The Jackson Laboratory