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Smarcb1
Gene Detail
 Symbol
Name
ID
Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
MGI:1328366
Synonyms Baf47, Ini1, integrase interactor 1, Snf5, SNF5/INI1
Feature Type protein coding gene
Genetic Map
Chromosome 10
38.61 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr10:75896769-75921617 bp, - strand
From VEGA annotation of GRCm38

  24849 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2310  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: SWI/SNF chromatin-remodeling complex, component hSNF5/Ini1
Gene Tree: Smarcb1

Human
homologs
Human Homolog SMARCB1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
NCBI Gene ID 6598
neXtProt AC  NX_Q12824
Human Synonyms  BAF47, hSNFS, INI1, MRD15, PPP1R144, RDT, RTPS1, Sfh1p, SNF5, SNF5L1, Snr1, SWNTS1
Human Chr (Location)  22q11.23; chr22:23786963-23834518 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human SMARCB1
Mutations,
alleles, and
phenotypes
All mutations/alleles(14) : Gene trapped(6) Targeted(8)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Smarcb1 (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(1)
Interactions
Smarcb1 interacts with 127 markers (Mir1a-1, Mir1a-2, Mir18, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (44 annotations)
Process ATP-dependent chromatin remodeling, blastocyst development, ...
Component nBAF complex, npBAF complex, ...
Function nucleosomal DNA binding, p53 binding, ...
External Resources: FuncBase
Expression
Literature Summary: (14 records)
Data Summary: Results (105)    Tissues (80)    Images (4)
Theiler Stages: 2, 3, 4, 5, 15, 17, 19, 20, 21, 23, 27, 28
Assay TypeResults
RNA in situ 67
Western blot 30
RT-PCR 8
cDNA source data(17)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(19) cDNA(17) Primer pair(2)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000031849 (Evidence)
Ensembl Gene ModelENSMUSG00000000902 (Evidence)
Entrez Gene20587 (Evidence)
DFCITC1574024, TC1602180, TC1628636, TC1658800, TC1676220
DoTSDT.101359435, DT.101401649, DT.91447908, DT.94170408, DT.94170461
NIA Mouse Gene IndexU031936
Consensus CDS ProjectCCDS23936.1, CCDS48602.1
International Mouse Knockout Project StatusSmarcb1
Sequences
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 sequences
All sequences(70) RefSeq(4) UniProt(8)
Polymorphisms SNPs within 2kb(73 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006939 SNF5/SMARCB1/INI1
InterPro IPR017393 SWI/SNF chromatin-remodeling complex, component hSNF5/Ini1
Protein Ontology PR:000015262 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
References (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:212579 Darr J, et al., Loss of IGFBP7 expression and persistent AKT activation contribute to SMARCB1/Snf5-mediated tumorigenesis. Oncogene. 2014 Jun 5;33(23):3024-32
All references(70)
Disease annotation references (3)
Other
accession IDs
MGI:2143737

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
09/16/2014
MGI 5.19
The Jackson Laboratory