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Smarce1 Gene Detail
Summary
  • Symbol
    Smarce1
  • Name
    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
  • Synonyms
    2810417B20Rik, 5830412H02Rik, 9030408N19Rik, BAF57
  • Feature Type
    protein coding gene
  • IDs
    MGI:1927347
    NCBI Gene: 57376
  • Gene Overview
    MyGene.info: SMARCE1
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:99209047-99231017 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 62.92 cM, cytoband D
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    127 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 Chr11:99209047-99231339 (-)
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, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SMARCE1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BAF57, CSS5
  • Links
    NCBI Gene ID: 6605
    neXtProt AC: NX_Q969G3
    UniProt: Q969G3

  • Chr Location
    17q21.2; chr17:40627720-40647851 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human SMARCE1 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 3 alleles in 2 genetic backgrounds
    16 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit prenatal lethality.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000037935 Ensembl Gene Model | MGI Sequence Detail 21971 C57BL/6J ±  kb
transcript ENSMUST00000103133 Ensembl | MGI Sequence Detail 2919 Not Applicable  
polypeptide ENSMUSP00000099422 Ensembl | MGI Sequence Detail 411 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000015268 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
  • InterPro Domains
    IPR009071 High mobility group box domain
    IPR036910 High mobility group box domain superfamily
    IPR030089 SWI/SNF complex subunit BAF57
Molecular
Reagents
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  • All nucleic 18
    cDNA 15
    Primer pair 2
    Other 1

    Microarray probesets 5
Other
Accession IDs
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MGI:1916518, MGI:1921785, MGI:1922002
References
more
  • Summaries
    All 64
    Developmental Gene Expression 15
    Gene Ontology 10
    Phenotypes 16
  • Earliest
    J:45580 Wang W, et al., Architectural DNA binding by a high-mobility-group/kinesin-like subunit in mammalian SWI/SNF-related complexes. Proc Natl Acad Sci U S A. 1998 Jan 20;95(2):492-8
  • Latest
    J:233831 Lomeli H, et al., The developmental and pathogenic roles of BAF57, a special subunit of the BAF chromatin-remodeling complex. FEBS Lett. 2016 Jun;590(11):1555-69

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory