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Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [ Mus musculus (house mouse) ]

Gene ID: 20587, updated on 8-Dec-2022

Summary

Official Symbol
Smarcb1provided by MGI
Official Full Name
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1provided by MGI
Primary source
MGI:MGI:1328366
See related
Ensembl:ENSMUSG00000000902 AllianceGenome:MGI:1328366
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ini1; Snf5; Baf47; SNF5/INI1
Summary
Predicted to enable several functions, including Tat protein binding activity; p53 binding activity; and transcription coactivator activity. Predicted to contribute to RNA polymerase I core promoter sequence-specific DNA binding activity. Acts upstream of or within blastocyst hatching; cell differentiation; and negative regulation of cell population proliferation. Located in XY body and nucleus. Part of SWI/SNF complex; nBAF complex; and npBAF complex. Is expressed in several structures, including branchial arch; central nervous system; genitourinary system; limb primordium; and sensory organ. Used to study atypical teratoid rhabdoid tumor. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome 3; atypical teratoid rhabdoid tumor; neurilemmomatosis; and rhabdoid cancer. Orthologous to human SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in adrenal adult (RPKM 44.4), CNS E11.5 (RPKM 42.9) and 28 other tissues See more
Orthologs
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Genomic context

See Smarcb1 in Genome Data Viewer
Location:
10; 10 C1
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (75732603..75757448, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (75896769..75921614, complement)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 40697 Neighboring gene Der1-like domain family, member 3 Neighboring gene matrix metallopeptidase 11 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 10 Neighboring gene predicted gene 867

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC132387

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding ISO
Inferred from Sequence Orthology
more info
 
contributes_to RNA polymerase I core promoter sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables Tat protein binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables p53 binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transcription coactivator activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within blastocyst development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within blastocyst hatching IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cell cycle IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within chromatin organization IEA
Inferred from Electronic Annotation
more info
 
involved_in chromatin remodeling ISO
Inferred from Sequence Orthology
more info
 
involved_in chromatin remodeling NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within hepatocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of histone H3-K9 dimethylation ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of histone H3-K9 trimethylation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within nervous system development IEA
Inferred from Electronic Annotation
more info
 
involved_in nucleosome disassembly ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation by host of viral transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of DNA-binding transcription factor activity ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of T cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of double-strand break repair NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of glucose mediated signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of histone H3-K9 acetylation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of histone H4 acetylation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of myoblast differentiation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of stem cell population maintenance NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of G0 to G1 transition NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of G1/S transition of mitotic cell cycle NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of mitotic metaphase/anaphase transition NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of nucleotide-excision repair NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within single stranded viral RNA replication via double stranded DNA intermediate ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of RSC-type complex NAS
Non-traceable Author Statement
more info
PubMed 
part_of SWI/SNF complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of SWI/SNF complex ISO
Inferred from Sequence Orthology
more info
 
part_of SWI/SNF complex NAS
Non-traceable Author Statement
more info
PubMed 
part_of SWI/SNF superfamily-type complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in XY body IDA
Inferred from Direct Assay
more info
PubMed 
part_of bBAF complex NAS
Non-traceable Author Statement
more info
PubMed 
part_of brahma complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of brahma complex NAS
Non-traceable Author Statement
more info
PubMed 
located_in chromatin ISO
Inferred from Sequence Orthology
more info
 
located_in chromatin NAS
Non-traceable Author Statement
more info
PubMed 
located_in fibrillar center ISO
Inferred from Sequence Orthology
more info
 
located_in germ cell nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
 
located_in kinetochore NAS
Non-traceable Author Statement
more info
PubMed 
part_of nBAF complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of nBAF complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of nBAF complex NAS
Non-traceable Author Statement
more info
PubMed 
part_of npBAF complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of npBAF complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of npBAF complex NAS
Non-traceable Author Statement
more info
PubMed 
located_in nuclear chromosome IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear matrix NAS
Non-traceable Author Statement
more info
PubMed 
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
Names
BRG1-associated factor 47
SNF5 homolog
integrase interactor 1 protein
mSNF5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001161853.1NP_001155325.1  SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 isoform 2

    See identical proteins and their annotated locations for NP_001155325.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AI840539, AK145552, AK150169
    Consensus CDS
    CCDS48602.1
    UniProtKB/TrEMBL
    A0A6P5Q9S2, Q3UDA4
    Related
    ENSMUSP00000112463.2, ENSMUST00000121304.2
    Conserved Domains (2) summary
    pfam04855
    Location:172354
    SNF5; SNF5 / SMARCB1 / INI1
    cd21086
    Location:998
    WH_NTD_SMARCB1; N-terminal winged helix DNA-binding domain found in SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1) and similar proteins
  2. NM_011418.2NP_035548.1  SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 isoform 1

    See identical proteins and their annotated locations for NP_035548.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI840539, AK075906, AK150169
    Consensus CDS
    CCDS23936.1
    UniProtKB/Swiss-Prot
    Q9Z0H3
    UniProtKB/TrEMBL
    A0A6P5QGL7, A0A8C6GGR8, Q3UDA4, Q6ZWP4
    Related
    ENSMUSP00000000925.4, ENSMUST00000000925.10
    Conserved Domains (2) summary
    pfam04855
    Location:181363
    SNF5; SNF5 / SMARCB1 / INI1
    cd21086
    Location:9107
    WH_NTD_SMARCB1; N-terminal winged helix DNA-binding domain found in SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1) and similar proteins

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    75732603..75757448 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)