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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
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

  • Chr Location
    22q11.23; chr22:23786963-23834518 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Rhabdoid Tumor Predisposition Syndrome 1; RTPS1   OMIM: 609322 View 3 models
       Coffin-Siris Syndrome 3; CSS3   OMIM: 614608
Schwannomatosis 1; SWNTS1   OMIM: 162091
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 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
    29 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.
  • All Mutations and Alleles
    16
  • Chemically induced (other)
    1
  • Gene trapped
    6
  • Targeted
    9
  • Genomic Mutations
    1 involving Smarcb1
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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 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
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  • SNPs within 2kb
    73 from dbSNP Build 142
Protein
Information
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  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000015262 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
  • InterPro Domains
    IPR006939 SNF5/SMARCB1/INI1
    IPR017393 SWI/SNF chromatin-remodeling complex, component hSNF5/Ini1
Molecular
Reagents
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  • All nucleic 19
    cDNA 17
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
less
MGI:2143737
References
more
  • Summaries
    All 73
    Developmental Gene Expression 16
    Diseases 3
    Gene Ontology 17
    Phenotypes 29
  • Earliest
    J:113826 Wang W, et al., Purification and biochemical heterogeneity of the mammalian SWI-SNF complex. EMBO J. 1996 Oct 1;15(19):5370-82
  • Latest
    J:231971 Nguyen H, et al., Epigenetic regulation by BAF (mSWI/SNF) chromatin remodeling complexes is indispensable for embryonic development. Cell Cycle. 2016 May 18;15(10):1317-24

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
09/20/2016
MGI 6.05
The Jackson Laboratory