SMARCB1 (SWI/SNF related BAF chromatin remodeling complex subunit B1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6598
Gene name Gene Name - the full gene name approved by the HGNC.
SWI/SNF related BAF chromatin remodeling complex subunit B1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMARCB1
Synonyms (NCBI Gene) Gene synonyms aliases
BAF47, CSS3, INI-1, INI1, MRD15, PPP1R144, RDT, RTPS1, SNF5, SNF5L1, SWNTS1, Sfh1p, Snr1, hSNFS
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.23|22q11
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(32)
SNP ID Visualize variation Clinical significance Consequence
rs74315513 C>T Pathogenic Stop gained, coding sequence variant
rs112038099 G>A,C Pathogenic Splice donor variant
rs121434496 C>T Pathogenic Coding sequence variant, stop gained
rs138184483 C>G,T Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs149451748 C>T Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(44)
miRTarBase ID miRNA Experiments Reference
MIRT004861 hsa-miR-192-5p Luciferase reporter assay, qRT-PCR 19074876
MIRT023864 hsa-miR-1-3p Proteomics 18668040
MIRT024448 hsa-miR-215-5p Microarray 19074876
MIRT004861 hsa-miR-192-5p Reporter assay;Microarray;Other 19074876
MIRT051937 hsa-let-7b-5p CLASH 23622248
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
PARP1 Unknown 17616514
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(75)
GO ID Ontology Definition Evidence Reference
GO:0000228 Component Nuclear chromosome IEA
GO:0000776 Component Kinetochore NAS 11078522
GO:0000785 Component Chromatin HDA 16217013
GO:0000785 Component Chromatin NAS 12192000
GO:0001164 Function RNA polymerase I core promoter sequence-specific DNA binding IMP 22368283
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601607 11103 ENSG00000099956
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q12824
Protein 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)
Protein function Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is
PDB 5AJ1 , 5GJK , 5L7A , 5L7B , 6AX5 , 6KAG , 6KZ7 , 6LTH , 6LTJ , 6LZP , 6UCH , 7VDV , 7Y8R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04855 SNF5 179 → 256 SNF5 / SMARCB1 / INI1 Family
PF04855 SNF5 249 → 373 SNF5 / SMARCB1 / INI1 Family
Sequence 
MMMMALSKTFGQKPVKFQLEDDGEFYMIGSEVGNYLRMFRGSLYKRYPSLWRRLATVEER
KKIVASSHGKKTKPNTKDHGYTTLATSVTLLKASEVEEILDGNDEKYKAVSISTEPPTYL
REQKAKRNSQWVPTLPNSSHHLDAVPCSTTINRNRMGRDKKRTFPLCFDDHDPAVIHENA
SQPEVLVPIRLDMEIDGQKLRDAFTWNMNEKLMTPEMFSEILCDDLDLNPLTFVPAIASA
IRQQIESYPTDSILEDQSDQRVIIKLNIHVGNISLVDQFEWDMSEKENSPEKFALKLCSE
LGLGGEFVTTIAYSIRGQLSWHQKTYAFSENPLPTVEIAIRNTGDADQWCPLLETLTDAE
MEKKIRDQDRNTRRMRRLANTAPAW
Sequence length 385
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  ATP-dependent chromatin remodeling
Viral life cycle - HIV-1
Thermogenesis
Hepatocellular carcinoma 		  RMTs methylate histone arginines
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Coffin-Siris Syndrome coffin-siris syndrome rs878854600, rs1057517825 N/A
Mental retardation Intellectual disability, autosomal dominant 15 rs886039520, rs1057517825, rs1555877287, rs875989800, rs797045989 N/A
Rhabdoid Tumor Predisposition Syndrome Rhabdoid tumor predisposition syndrome 1 rs1555875917, rs587776678, rs112038099, rs1601433318 N/A
Schwannomatosis Schwannomatosis 1, somatic rs121434496 N/A
Show/Hide Unknown Diseases (9)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Adenocarcinoma adenoid cystic carcinoma N/A N/A ClinVar
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
autism spectrum disorder Autism spectrum disorder N/A N/A ClinVar
Dementia Dementia N/A N/A GWAS
Show/Hide Text Mining Associations (175)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
22q11 Deletion Syndrome Associate 21613800
Acute Retroviral Syndrome Associate 15589835
Adenocarcinoma Associate 23161234, 25007146, 31468350, 31906887, 35307773, 38085333, 40101550
Adenoma Associate 23425390
Alcoholism Associate 28981154
Anemia Associate 29907796
Anemia Sickle Cell Inhibit 30980040
Antisocial Personality Disorder Associate 28981154
Astrocytoma Associate 28181325
Brain Neoplasms Associate 26109171