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
    gene 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
    18
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 MGP_129S1SvImJ_G0024258
 protein coding gene Chr18:33550327-33793440 (-)
A/J MGP_AJ_G0024224
 protein coding gene Chr18:32388165-32630167 (-)
AKR/J MGP_AKRJ_G0024192
 protein coding gene Chr18:33314348-33493860 (-)
BALB/cJ MGP_BALBcJ_G0024224
 protein coding gene Chr18:32451263-32629356 (-)
C3H/HeJ MGP_C3HHeJ_G0023991
 protein coding gene Chr18:33345930-33529781 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024666
 protein coding gene Chr18:34786356-34967048 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022106
 protein coding gene Chr18:32527152-32701991 (-)
CAST/EiJ MGP_CASTEiJ_G0023466
 protein coding gene Chr18:33328398-33576602 (-)
CBA/J MGP_CBAJ_G0023959
 protein coding gene Chr18:35770591-35969991 (-)
DBA/2J MGP_DBA2J_G0024091
 protein coding gene Chr18:32043936-32220952 (-)
FVB/NJ MGP_FVBNJ_G0024058
 protein coding gene Chr18:31730083-31906785 (-)
LP/J MGP_LPJ_G0024173
 protein coding gene Chr18:33619274-33862078 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024086
 protein coding gene Chr18:37010201-37205116 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024714
 protein coding gene Chr18:33150213-33335725 (-)
PWK/PhJ MGP_PWKPhJ_G0023210
 protein coding gene Chr18:32265267-32500460 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023018
 protein coding gene Chr18:33414629-33663871 (-)
WSB/EiJ MGP_WSBEiJ_G0023529
 protein coding gene Chr18:33079391-33322622 (-)



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
    neXtProt AC: NX_Q9H173
    UniProt: Q9H173

  • Chr Location
    5q31.2; chr5:138946724-139293557 (-)  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
    17 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
    10
  • 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
    787
  • 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
  • UniProt
    9 Sequences
  • Protein Ontology
    PR:000014873 nucleotide exchange factor SIL1
    (term hierarchy)
  • InterPro Domains
    IPR011989 Armadillo-like helical
    IPR016024 Armadillo-type fold
    IPR050693 Hsp70 Nucleotide Exchange Factors and Inhibitors
    IPR013918 Nucleotide exchange factor Fes1
  • GlyGen
    Q9EPK6 3 sites, 4 N-linked glycans (1 site), 1 O-linked glycan (1 site)
Molecular
Reagents
less
  • All nucleic 68
    cDNA 68

    Microarray probesets 2
Other
Accession IDs
less
MGI:1923775, MGI:2147193, MGI:2182806
References
more
  • Summaries
    All 43
    Developmental Gene Expression 3
    Gene Ontology 6
    Phenotypes 17
  • 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:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;
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
11/05/2024
MGI 6.24 		The Jackson Laboratory