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Smarce1 Gene Detail
Summary
  • Symbol
    Smarce1
  • Name
    SWI/SNF related BAF chromatin remodeling complex subunit E1
  • Synonyms
    2810417B20Rik, 5830412H02Rik, 9030408N19Rik, BAF57
  • Feature Type
    protein coding gene
  • IDs
    MGI:1927347
    NCBI Gene: 57376
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:99099873-99121843 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 62.92 cM, cytoband D
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    590 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1927347
 protein coding gene Chr11:99099873-99121843 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019084
 protein coding gene Chr11:101858883-101880489 (-)
A/J MGP_AJ_G0019052
 protein coding gene Chr11:97574152-97595746 (-)
AKR/J MGP_AKRJ_G0019022
 protein coding gene Chr11:100594908-100619036 (-)
BALB/cJ MGP_BALBcJ_G0019026
 protein coding gene Chr11:98069281-98090887 (-)
C3H/HeJ MGP_C3HHeJ_G0018839
 protein coding gene Chr11:100750261-100772037 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019477
 protein coding gene Chr11:104990115-105014493 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017109
 protein coding gene Chr11:95132676-95154500 (-)
CAST/EiJ MGP_CASTEiJ_G0018394
 protein coding gene Chr11:101740100-101761751 (-)
CBA/J MGP_CBAJ_G0018810
 protein coding gene Chr11:109350263-109371860 (-)
DBA/2J MGP_DBA2J_G0018918
 protein coding gene Chr11:97135680-97157286 (-)
FVB/NJ MGP_FVBNJ_G0018907
 protein coding gene Chr11:96652028-96673626 (-)
LP/J MGP_LPJ_G0018988
 protein coding gene Chr11:102330104-102351710 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018934
 protein coding gene Chr11:109047695-109069379 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019517
 protein coding gene Chr11:100960077-100981675 (-)
PWK/PhJ MGP_PWKPhJ_G0018165
 protein coding gene Chr11:98208691-98230847 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017953
 protein coding gene Chr11:100710737-100732740 (-)
WSB/EiJ MGP_WSBEiJ_G0018442
 protein coding gene Chr11:100930205-100951880 (-)



Homology
more
  • Human Ortholog
    SMARCE1, SWI/SNF related BAF chromatin remodeling complex subunit E1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMARCE1, SWI/SNF related BAF chromatin remodeling complex subunit E1
  • Synonyms
    BAF57, CSS5
  • Links
    NCBI Gene ID: 6605
    neXtProt AC: NX_Q969G3
    UniProt: Q969G3

  • Chr Location
    17q21.2; chr17:40624962-40648654 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with human SMARCE1 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 4 alleles in 3 genetic backgrounds
    1 images
    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.
Homozygous deletion of this gene causes prenatal lethality. Mice homozygous for a knock-out allele show abnormal embryo morphology, partial embryonic death before implantation, and complete lethality by E9.5.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    48
  • GO References
    30
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
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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
    864
  • Tissues
    130
  • cDNA Data
    14
  • Literature Summary
    22
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 57376 NCBI Gene Model | MGI Sequence Detail 21971 C57BL/6J ±  kb
    transcript NM_020618 RefSeq | MGI Sequence Detail 2961 C57BL/6  
    polypeptide O54941 UniProt | EBI | MGI Sequence Detail 411 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000015268 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
      (term hierarchy)
    • InterPro Domains
      IPR009071 High mobility group box domain
      IPR036910 High mobility group box domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 20
      cDNA 15
      Primer pair 4
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1916518, MGI:1921785, MGI:1922002
    References
    more
    • Summaries
      All 95
      Developmental Gene Expression 22
      Gene Ontology 30
      Phenotypes 21
    • Earliest
      J:320308 Valka I, et al., Separation and Quantification of Some Alkaloids from Fumaria parviflora by Capillary Isotachophoresis1. Planta Med. 1985 Aug;51(4):319-22
    • 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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory