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 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, RDT, RTPS1, Sfh1p, SNF5, SNF5L1, Snr1
Human Chr (Location)		22q11.23; chr22:24129150-24176705 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human SMARCB1

Alleles and phenotypes

All alleles(14) : Targeted(8) Gene trapped(6)
 

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(1)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (38 annotations)

Process	ATP-dependent chromatin remodeling, blastocyst development, ...
Component	nBAF complex, npBAF complex, ...
Function	p53 binding, protein binding, ...

External Resources: FuncBase

Expression

Literature Summary: (14 records)
Data Summary: Results (112)    Tissues (85)    Images (4)
Theiler Stages: 2, 3, 4, 5, 15, 17, 19, 20, 21, 23, 28

Assay Type	Results
RNA in situ	67
Western blot	30
RT-PCR	15

cDNA source data(17)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(19) cDNA(17) Primer pair(2)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000031849 (Evidence)
Ensembl Gene Model	ENSMUSG00000000902 (Evidence)
Entrez Gene	20587 (Evidence)
DFCI	TC1574024, TC1602180, TC1628636, TC1658800, TC1676220
DoTS	DT.101359435, DT.101401649, DT.91447908, DT.94170408, DT.94170461
NIA Mouse Gene Index	U031936
Consensus CDS Project	CCDS23936.1, CCDS48602.1
International Mouse Knockout Project Status	Smarcb1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031849	VEGA Gene Model | MGI Sequence Detail	24849	C57BL/6J
transcript	OTTMUST00000078972	VEGA | MGI Sequence Detail	1660	Not Applicable
polypeptide	OTTMUSP00000042073	VEGA | MGI Sequence Detail	385	Not Applicable

All sequences(70) RefSeq(4) UniProt(8)

Polymorphisms

SNPs(72 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:192829 Chandler RL, et al., ARID1a-DNA interactions are required for promoter occupancy by SWI/SNF. Mol Cell Biol. 2013 Jan;33(2):265-80
All references(68)

Other accession IDs

MGI:2143737