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Exosc1 Gene Detail
Summary
  • Symbol
    Exosc1
  • Name
    exosome component 1
  • Synonyms
    2610035C18Rik, 2610104C07Rik, 2610312F07Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913833
    NCBI Gene: 66583
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:41911417-41921836 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 35.46 cM, cytoband D1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    407 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1913833
 protein coding gene Chr19:41910731-41921862 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025131
 protein coding gene Chr19:41226522-41236631 (-)
A/J MGP_AJ_G0025108
 protein coding gene Chr19:39244032-39254398 (-)
AKR/J MGP_AKRJ_G0025076
 protein coding gene Chr19:40533862-40543977 (-)
BALB/cJ MGP_BALBcJ_G0025102
 protein coding gene Chr19:39302924-39313289 (-)
C3H/HeJ MGP_C3HHeJ_G0024862
 protein coding gene Chr19:40683876-40693992 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025545
 protein coding gene Chr19:42301109-42311479 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022959
 protein coding gene Chr19:38599599-38608487 (-)
CAST/EiJ MGP_CASTEiJ_G0024327
 protein coding gene Chr19:40355063-40364955 (-)
CBA/J MGP_CBAJ_G0024842
 protein coding gene Chr19:44363557-44373673 (-)
DBA/2J MGP_DBA2J_G0024974
 protein coding gene Chr19:39094759-39104870 (-)
FVB/NJ MGP_FVBNJ_G0024935
 protein coding gene Chr19:38868409-38879536 (-)
LP/J MGP_LPJ_G0025060
 protein coding gene Chr19:41220537-41230686 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024966
 protein coding gene Chr19:43989262-44000678 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025603
 protein coding gene Chr19:40571509-40581622 (-)
PWK/PhJ MGP_PWKPhJ_G0024076
 protein coding gene Chr19:38969384-38979721 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023880
 protein coding gene Chr19:39315553-39326051 (-)
WSB/EiJ MGP_WSBEiJ_G0024397
 protein coding gene Chr19:40725368-40735488 (-)



Homology
more
  • Human Ortholog
    EXOSC1, exosome component 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EXOSC1, exosome component 1
  • Synonyms
    CGI-108, CSL4, Csl4p, p13, PCH1F, SKI4, Ski4p
  • Links
    NCBI Gene ID: 51013
    neXtProt AC: NX_Q9Y3B2
    UniProt: Q9Y3B2

  • Chr Location
    10q24.1; chr10:97435909-97446017 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human EXOSC1 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
    21 phenotypes from 1 allele in 1 genetic background
    1 images
    10 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.
Embryos homozygous for a knock-out allele are able to implant and form an egg cylinder but are developmentally delayed and show increased epiblast cell apoptosis, failure to initiate gastrulation, and complete embryonic lethality prior to organogenesis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    25
  • GO References
    8
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
    768
  • Tissues
    29
  • cDNA Data
    50
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 66583 NCBI Gene Model | MGI Sequence Detail 10420 C57BL/6J ±  kb
    transcript NM_025644 RefSeq | MGI Sequence Detail 1622 C57BL/6  
    polypeptide Q9DAA6 UniProt | EBI | MGI Sequence Detail 195 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 54
      cDNA 52
      Primer pair 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1913871, MGI:1914932, MGI:2147537
    References
    more
    • Summaries
      All 44
      Developmental Gene Expression 6
      Gene Ontology 8
      Phenotypes 10
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory