• Gene id: 6598

Gene Summary

• Gene Symbol: SMARCB1   Gene   UCSC   Ensembl
• Aliases: BAF47, CSS3, INI1, MRD15, PPP1R144, RDT, RTPS1, SNF5, SNF5L1, SWNTS1, Sfh1p, Snr1, hSNFS
• Gene name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
• Alternate names: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1, BRG1-associated factor 47, SNF5 homolog, SWI/SNF-related matrix-associated protein, hSNF5, integrase interactor 1 protein, malignant rhabdoid tumor suppressor, protein,
• Gene location: 22q11 (23786965: 23838008)     Exons: 9     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining ac
• OMIM: 601607

Protein Summary

• Protein general information: Q12824  
  • Name: SWI/SNF related matrix associated actin dependent regulator of chromatin subfamily B member 1 (BRG1 associated factor 47) (BAF47) (Integrase interactor 1 protein) (SNF5 homolog) (hSNF5)
  • Length: 385  
  • Mass: 44141
• Sequence:

  MMMMALSKTFGQKPVKFQLEDDGEFYMIGSEVGNYLRMFRGSLYKRYPSLWRRLATVEERKKIVASSHGKKTKPN
  TKDHGYTTLATSVTLLKASEVEEILDGNDEKYKAVSISTEPPTYLREQKAKRNSQWVPTLPNSSHHLDAVPCSTT
  INRNRMGRDKKRTFPLCFDDHDPAVIHENASQPEVLVPIRLDMEIDGQKLRDAFTWNMNEKLMTPEMFSEILCDD
  LDLNPLTFVPAIASAIRQQIESYPTDSILEDQSDQRVIIKLNIHVGNISLVDQFEWDMSEKENSPEKFALKLCSE
  LGLGGEFVTTIAYSIRGQLSWHQKTYAFSENPLPTVEIAIRNTGDADQWCPLLETLTDAEMEKKIRDQDRNTRRM
  RRLANTAPAW

• Structural information:
  • Interpro: IPR017393  IPR006939  
  • PDB: 5AJ1 5GJK 5L7A 5L7B 6AX5 6UCH
  • PDBsum: 5AJ1 5GJK 5L7A 5L7B 6AX5 6UCH
  • DIP: 27550
  • STRING: ENSP00000263121
• Other Databases: GeneCards:  SMARCB1  Malacards:  SMARCB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003713	transcription coactivator activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0035060	brahma complex	IBA	cellular component
GO:0071565	nBAF complex	IBA	cellular component
GO:0006281	DNA repair	IBA	biological process
GO:0006337	nucleosome disassembly	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0016514	SWI/SNF complex	IBA	cellular component
GO:0071564	npBAF complex	IBA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0071564	npBAF complex	ISS	cellular component
GO:0071565	nBAF complex	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000228	nuclear chromosome	IEA	cellular component
GO:0006338	chromatin remodeling	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0015074	DNA integration	TAS	biological process
GO:0039692	single stranded viral RNA replication via double stranded DNA intermediate	IDA	biological process
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002039	p53 binding	IPI	molecular function
GO:0003713	transcription coactivator activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030957	Tat protein binding	IPI	molecular function
GO:0006338	chromatin remodeling	IDA	biological process
GO:0006337	nucleosome disassembly	IDA	biological process
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	NAS	biological process
GO:0043923	positive regulation by host of viral transcription	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0001188	RNA polymerase I preinitiation complex assembly	IEA	biological process
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:1902661	positive regulation of glucose mediated signaling pathway	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0032991	protein-containing complex	HDA	cellular component
GO:0006338	chromatin remodeling	IMP	biological process
GO:0031492	nucleosomal DNA binding	HDA	contributes to
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	HDA	contributes to
GO:0043044	ATP-dependent chromatin remodeling	HDA	biological process
GO:0000790	nuclear chromatin	HDA	cellular component
GO:1901838	positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP	biological process
GO:2000618	regulation of histone H4-K16 acetylation	IMP	NOT|biological process
GO:0001164	RNA polymerase I core promoter sequence-specific DNA binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000617	positive regulation of histone H3-K9 acetylation	IMP	biological process
GO:1900110	negative regulation of histone H3-K9 dimethylation	IMP	biological process
GO:0090240	positive regulation of histone H4 acetylation	IMP	biological process
GO:1900113	negative regulation of histone H3-K9 trimethylation	IMP	biological process
GO:1901838	positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IGI	biological process

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis
hsa05225	Hepatocellular carcinoma

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Coffin-Siris syndrome	KEGG:H01403
Meningioma	KEGG:H01556
Rhabdoid predisposition syndrome	KEGG:H01134
Autosomal dominant mental retardation	KEGG:H00773
Coffin-Siris syndrome	KEGG:H01403
Meningioma	KEGG:H01556
Rhabdoid predisposition syndrome	KEGG:H01134
rhabdoid cancer	PMID:9671307
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)