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Smarcb1 Gene Detail
Summary
  • Symbol
    Smarcb1
  • Name
    SWI/SNF related BAF chromatin remodeling complex subunit B1
  • Synonyms
    Baf47, Ini1, integrase interactor 1, Snf5, SNF5/INI1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1328366
    NCBI Gene: 20587
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:75732603-75757448 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 38.61 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    625 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1328366
 protein coding gene Chr10:75732603-75757451 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017370
 protein coding gene Chr10:76099082-76123521 (-)
A/J MGP_AJ_G0017347
 protein coding gene Chr10:73480751-73505150 (-)
AKR/J MGP_AKRJ_G0017308
 protein coding gene Chr10:75453878-75479556 (-)
BALB/cJ MGP_BALBcJ_G0017307
 protein coding gene Chr10:73676959-73703045 (-)
C3H/HeJ MGP_C3HHeJ_G0017131
 protein coding gene Chr10:75501395-75527071 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017765
 protein coding gene Chr10:78790908-78815272 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015455
 protein coding gene Chr10:69931470-69955653 (-)
CAST/EiJ MGP_CASTEiJ_G0016702
 protein coding gene Chr10:75817219-75843154 (-)
CBA/J MGP_CBAJ_G0017103
 protein coding gene Chr10:81863409-81887915 (-)
DBA/2J MGP_DBA2J_G0017208
 protein coding gene Chr10:72779248-72804455 (-)
FVB/NJ MGP_FVBNJ_G0017201
 protein coding gene Chr10:71934497-71959941 (-)
LP/J MGP_LPJ_G0017281
 protein coding gene Chr10:76597550-76622254 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017229
 protein coding gene Chr10:83955375-83979743 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017804
 protein coding gene Chr10:75489670-75514715 (-)
PWK/PhJ MGP_PWKPhJ_G0016485
 protein coding gene Chr10:72604723-72630473 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016268
 protein coding gene Chr10:74740744-74765161 (-)
WSB/EiJ MGP_WSBEiJ_G0016765
 protein coding gene Chr10:75472062-75496545 (-)



Homology
more
  • Human Ortholog
    SMARCB1, SWI/SNF related BAF chromatin remodeling complex subunit B1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMARCB1, SWI/SNF related BAF chromatin remodeling complex subunit B1
  • Synonyms
    BAF47, CSS3, hSNFS, INI-1, 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; chr22:23786931-23838009 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Smarcb1 mouse models; 7 with human SMARCB1 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
IDs
IDs
IDs
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
    65 phenotypes from 9 alleles in 12 genetic backgrounds
    33 phenotypes from multigenic genotypes
    1 images
    50 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 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. Homozygosity for a C-terminus extending mutation affects brain development, often leading to hydrocephalus, and leads to slow weight gain.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    87
  • GO References
    38
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
    845
  • Tissues
    107
  • cDNA Data
    21
  • Literature Summary
    26
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20587 NCBI Gene Model | MGI Sequence Detail 24846 C57BL/6J ±  kb
    transcript NM_011418 RefSeq | MGI Sequence Detail 1674 C57BL/6  
    polypeptide Q9Z0H3 UniProt | EBI | MGI Sequence Detail 385 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      8 Sequences
    • Protein Ontology
      PR:000015262 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
      (term hierarchy)
    • InterPro Domains
      IPR017393 Chromatin-remodeling complex component Sfh1/SNF5
      IPR006939 SNF5/SMARCB1/INI1
      IPR048664 SWI/SNF Subunit INI1, DNA binding domain
    Molecular
    Reagents
    less
    • All nucleic 25
      cDNA 21
      Primer pair 3
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2143737
    References
    more
    • Summaries
      All 131
      Developmental Gene Expression 26
      Diseases 3
      Gene Ontology 38
      Phenotypes 50
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • 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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory