Homo sapiens Gene: SMARCB1
Summary
InnateDB Gene IDBG-2584.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SMARCB1
Gene Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Synonyms BAF47; hSNFS; INI1; MRD15; PPP1R144; RDT; RTPS1; Sfh1p; SNF5; SNF5L1; Snr1; SWNTS1;
Species Homo sapiens
Ensembl Gene ENSG00000099956
Encoded Proteins
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:23786963-23834516
Strand Forward strand
Band q11.23
Transcripts
ENST00000263121 ENSP00000263121
ENST00000344921 ENSP00000340883
ENST00000407422 ENSP00000383984
ENST00000407082 ENSP00000385226
ENST00000417137 ENSP00000388489
ENST00000491967
ENST00000477836
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 187 experimentally validated interaction(s) in this database.
They are also associated with 16 interaction(s) predicted by orthology.
Experimentally validated
Total 187 [view]
Protein-Protein 174 [view]
Protein-DNA 10 [view]
Protein-RNA 0
DNA-DNA 3 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 16 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0002039 p53 binding
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0030957 Tat protein binding
GO:0031492 nucleosomal DNA binding
Biological Process
GO:0001824 blastocyst development
GO:0001835 blastocyst hatching
GO:0006281 DNA repair
GO:0006337 nucleosome disassembly
GO:0006338 chromatin remodeling
GO:0006351 transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007399 nervous system development
GO:0008285 negative regulation of cell proliferation
GO:0015074 DNA integration
GO:0030154 cell differentiation
GO:0039692 single stranded viral RNA replication via double stranded DNA intermediate
GO:0043044 ATP-dependent chromatin remodeling
GO:0043923 positive regulation by host of viral transcription
GO:0044772 mitotic cell cycle phase transition
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
Cellular Component
GO:0000228 nuclear chromosome
GO:0000790 nuclear chromatin
GO:0001741 XY body
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0016514 SWI/SNF complex
GO:0043234 protein complex
GO:0071564 npBAF complex
GO:0071565 nBAF complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
TNFalpha pathway
REACTOME
Chromatin organization pathway
RMTs methylate histone arginines pathway
Chromatin modifying enzymes pathway
KEGG
INOH
PID BIOCARTA
The information processing pathway at the ifn beta enhancer [Biocarta view]
Chromatin remodeling by hswi/snf atp-dependent complexes [Biocarta view]
PID NCI
Regulation of retinoblastoma protein
Validated nuclear estrogen receptor beta network
Cross-References
SwissProt
TrEMBL C9JTA6
UniProt Splice Variant
Entrez Gene 6598
UniGene Hs.534350
RefSeq NM_003073 NM_001007468
HUGO HGNC:11103
OMIM 601607
CCDS CCDS13817 CCDS46671
HPRD 03364
IMGT
EMBL AP000349 AP000350
GenPept
RNA Seq Atlas 6598