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Smarcb1 Gene Detail
Summary
  • Symbol
    Smarcb1
  • Name
    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
  • Synonyms
    Baf47, Ini1, integrase interactor 1, Snf5, SNF5/INI1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1328366
    NCBI Gene: 20587
  • Gene Overview
    MyGene.info: SMARCB1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr10:75896769-75921617 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24849 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 38.61 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SMARCB1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SMARCB1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BAF47, CSS3, hSNFS, INI1, MRD15, PPP1R144, RDT, RTPS1, Sfh1p, SNF5, SNF5L1, Snr1, SWNTS1
  • Links
    NCBI Gene ID: 6598
    neXtProt AC: NX_Q12824
    UniProt: Q12824

  • Chr Location
    22q11.23; chr22:23786931-23834518 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Smarcb1 mouse models; 3 with human SMARCB1 associations

Human Disease Mouse Models
      
IDs
View 3 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    51 phenotypes from 7 alleles in 10 genetic backgrounds
    33 phenotypes from multigenic genotypes
    1 images
    32 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.
Homozygous inactivation of this gene leads to peri-implantation lethality, likely due to an inability of the blastocysts to hatch and implant in the uterus. A subset of heterozygous null mice develop a variety of tumors in the soft tissues of the head and neck.
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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000031849 VEGA Gene Model | MGI Sequence Detail 24849 C57BL/6J ±  kb
    transcript OTTMUST00000078972 VEGA | MGI Sequence Detail 1660 Not Applicable  
    polypeptide OTTMUSP00000042073 VEGA | MGI Sequence Detail 385 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      73 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      8 Sequences
    • InterPro Domains
      IPR017393 Chromatin-remodeling complex component Sfh1/SNF5
      IPR006939 SNF5/SMARCB1/INI1
    Molecular
    Reagents
    less
    • All nucleic 23
      cDNA 20
      Primer pair 2
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2143737
    References
    more
    • Summaries
      All 85
      Developmental Gene Expression 17
      Diseases 3
      Gene Ontology 17
      Phenotypes 32
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:260826 Witzel M, et al., Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. Nat Genet. 2017 May;49(5):742-752

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    07/31/2018
    MGI 6.12
    The Jackson Laboratory