Summary | |
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Symbol | SMARCB1 |
Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
Aliases | BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ...... |
Location | 22q11.23 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Cancer Gene Databases | ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes) |
Content |
> Domain, Function and Classification > Gene Ontology > KEGG and Reactome Pathway |
Domain |
PF04855 SNF5 / SMARCB1 / INI1 |
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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 able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1. |
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Classification |
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Biological Process |
GO:0001678 cellular glucose homeostasis GO:0001701 in utero embryonic development GO:0001824 blastocyst development GO:0001835 blastocyst hatching GO:0006333 chromatin assembly or disassembly GO:0006337 nucleosome disassembly GO:0006338 chromatin remodeling GO:0006356 regulation of transcription from RNA polymerase I promoter GO:0006360 transcription from RNA polymerase I promoter GO:0006473 protein acetylation GO:0006475 internal protein amino acid acetylation GO:0006479 protein methylation GO:0008213 protein alkylation GO:0009303 rRNA transcription GO:0009743 response to carbohydrate GO:0009746 response to hexose GO:0009749 response to glucose GO:0009756 carbohydrate mediated signaling GO:0009757 hexose mediated signaling GO:0010182 sugar mediated signaling pathway GO:0010255 glucose mediated signaling pathway GO:0015074 DNA integration GO:0016570 histone modification GO:0016571 histone methylation GO:0016573 histone acetylation GO:0018022 peptidyl-lysine methylation GO:0018023 peptidyl-lysine trimethylation GO:0018027 peptidyl-lysine dimethylation GO:0018205 peptidyl-lysine modification GO:0018393 internal peptidyl-lysine acetylation GO:0018394 peptidyl-lysine acetylation GO:0019058 viral life cycle GO:0019079 viral genome replication GO:0019080 viral gene expression GO:0019083 viral transcription GO:0031056 regulation of histone modification GO:0031057 negative regulation of histone modification GO:0031058 positive regulation of histone modification GO:0031060 regulation of histone methylation GO:0031061 negative regulation of histone methylation GO:0031498 chromatin disassembly GO:0032259 methylation GO:0032844 regulation of homeostatic process GO:0032846 positive regulation of homeostatic process GO:0032984 macromolecular complex disassembly GO:0032986 protein-DNA complex disassembly GO:0033500 carbohydrate homeostasis GO:0034284 response to monosaccharide GO:0034728 nucleosome organization GO:0034968 histone lysine methylation GO:0035065 regulation of histone acetylation GO:0035066 positive regulation of histone acetylation GO:0035188 hatching GO:0035821 modification of morphology or physiology of other organism GO:0036123 histone H3-K9 dimethylation GO:0036124 histone H3-K9 trimethylation GO:0039692 single stranded viral RNA replication via double stranded DNA intermediate GO:0039694 viral RNA genome replication GO:0039703 RNA replication GO:0042593 glucose homeostasis GO:0042790 transcription of nuclear large rRNA transcript from RNA polymerase I promoter GO:0043044 ATP-dependent chromatin remodeling GO:0043241 protein complex disassembly GO:0043414 macromolecule methylation GO:0043543 protein acylation GO:0043900 regulation of multi-organism process GO:0043902 positive regulation of multi-organism process GO:0043903 regulation of symbiosis, encompassing mutualism through parasitism GO:0043921 modulation by host of viral transcription GO:0043923 positive regulation by host of viral transcription GO:0043966 histone H3 acetylation GO:0043967 histone H4 acetylation GO:0043970 histone H3-K9 acetylation GO:0044033 multi-organism metabolic process GO:0045943 positive regulation of transcription from RNA polymerase I promoter GO:0046782 regulation of viral transcription GO:0048524 positive regulation of viral process GO:0050434 positive regulation of viral transcription GO:0050792 regulation of viral process GO:0051090 regulation of sequence-specific DNA binding transcription factor activity GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051567 histone H3-K9 methylation GO:0051570 regulation of histone H3-K9 methylation GO:0051573 negative regulation of histone H3-K9 methylation GO:0051702 interaction with symbiont GO:0051817 modification of morphology or physiology of other organism involved in symbiotic interaction GO:0051851 modification by host of symbiont morphology or physiology GO:0052312 modulation of transcription in other organism involved in symbiotic interaction GO:0052472 modulation by host of symbiont transcription GO:0061647 histone H3-K9 modification GO:0071322 cellular response to carbohydrate stimulus GO:0071326 cellular response to monosaccharide stimulus GO:0071331 cellular response to hexose stimulus GO:0071333 cellular response to glucose stimulus GO:0071684 organism emergence from protective structure GO:0071824 protein-DNA complex subunit organization GO:0090239 regulation of histone H4 acetylation GO:0090240 positive regulation of histone H4 acetylation GO:0098781 ncRNA transcription GO:1900109 regulation of histone H3-K9 dimethylation GO:1900110 negative regulation of histone H3-K9 dimethylation GO:1900112 regulation of histone H3-K9 trimethylation GO:1900113 negative regulation of histone H3-K9 trimethylation GO:1901836 regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter GO:1901838 positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter GO:1901983 regulation of protein acetylation GO:1901985 positive regulation of protein acetylation GO:1902275 regulation of chromatin organization GO:1902659 regulation of glucose mediated signaling pathway GO:1902661 positive regulation of glucose mediated signaling pathway GO:1903900 regulation of viral life cycle GO:1903902 positive regulation of viral life cycle GO:1905268 negative regulation of chromatin organization GO:1905269 positive regulation of chromatin organization GO:2000615 regulation of histone H3-K9 acetylation GO:2000617 positive regulation of histone H3-K9 acetylation GO:2000756 regulation of peptidyl-lysine acetylation GO:2000758 positive regulation of peptidyl-lysine acetylation |
Molecular Function |
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:0000987 core promoter proximal region sequence-specific DNA binding GO:0001013 RNA polymerase I regulatory region DNA binding GO:0001046 core promoter sequence-specific DNA binding GO:0001047 core promoter binding GO:0001158 enhancer sequence-specific DNA binding GO:0001159 core promoter proximal region DNA binding GO:0001163 RNA polymerase I regulatory region sequence-specific DNA binding GO:0001164 RNA polymerase I CORE element sequence-specific DNA binding GO:0002039 p53 binding GO:0003682 chromatin binding GO:0003713 transcription coactivator activity GO:0008134 transcription factor binding GO:0030957 Tat protein binding GO:0031490 chromatin DNA binding GO:0031491 nucleosome binding GO:0031492 nucleosomal DNA binding GO:0035326 enhancer binding GO:0043566 structure-specific DNA binding |
Cellular Component |
GO:0000785 chromatin GO:0000790 nuclear chromatin GO:0000803 sex chromosome GO:0001741 XY body GO:0016514 SWI/SNF complex GO:0044454 nuclear chromosome part GO:0070603 SWI/SNF superfamily-type complex GO:0071564 npBAF complex GO:0071565 nBAF complex GO:0090544 BAF-type complex |
KEGG | - |
Reactome |
R-HSA-3247509: Chromatin modifying enzymes R-HSA-4839726: Chromatin organization R-HSA-3214858: RMTs methylate histone arginines |
Summary | |
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Symbol | SMARCB1 |
Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
Aliases | BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ...... |
Location | 22q11.23 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Cancer Gene Databases | ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes) |
Content |
> Mutation landscape in primary tumor tissue from TCGA > Mutation landscape in cancer cell line from CCLE > All mutations from COSMIC database V81 > Variations from text mining |
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Summary | |
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Symbol | SMARCB1 |
Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
Aliases | BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ...... |
Location | 22q11.23 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Cancer Gene Databases | ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes) |
Content |
> Post-translational modification (PTM) |
Filter By:
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Summary | |
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Symbol | SMARCB1 |
Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
Aliases | BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ...... |
Location | 22q11.23 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Cancer Gene Databases | ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes) |
Content |
> Expression analysis in primary tumor tissue from TCGA > Expression level in cancer cell line from CCLE > Expression level in human normal tissue from HPA > Text mining based expression change |
Differential expression analysis for cancers with more than 10 normal samples
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Summary | |
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Symbol | SMARCB1 |
Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
Aliases | BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ...... |
Location | 22q11.23 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Cancer Gene Databases | ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes) |
Content |
> Somatic copy number alteration in primary tomur tissue |
Correlation between expression and SCNA as well as percentage of patients in different status.
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Summary | |
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Symbol | SMARCB1 |
Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
Aliases | BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ...... |
Location | 22q11.23 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Cancer Gene Databases | ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes) |
Content |
> Methylation level in the promoter region of CR |
Correlation between expression and methylation as well as differential methylation analysis.
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Summary | |
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Symbol | SMARCB1 |
Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
Aliases | BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ...... |
Location | 22q11.23 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Cancer Gene Databases | ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes) |
Content |
> Primary tumor tissue from TCGA > Normal tumor tissue from HPA |
There is no record. |
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Summary | |
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Symbol | SMARCB1 |
Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
Aliases | BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ...... |
Location | 22q11.23 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Cancer Gene Databases | ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes) |
Content |
> Association between expresson and subtype > Overall survival analysis based on expression > Association between expresson and stage > Association between expresson and grade |
Association between expresson and subtype.
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Overall survival analysis based on expression.
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Association between expresson and stage.
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Association between expresson and grade.
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Summary | |
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Symbol | SMARCB1 |
Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
Aliases | BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ...... |
Location | 22q11.23 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Cancer Gene Databases | ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes) |
Content |
> Targets inferred by reverse engineering method > Targets identified by ChIP-seq data |
Summary | |
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Symbol | SMARCB1 |
Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
Aliases | BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ...... |
Location | 22q11.23 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Cancer Gene Databases | ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes) |
Content |
> Drugs from DrugBank database |
There is no record for SMARCB1. |
Summary | |
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Symbol | SMARCB1 |
Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
Aliases | BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ...... |
Location | 22q11.23 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Cancer Gene Databases | ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes) |
Content |
> Protein-Protein Interaction Network > miRNA Regulatory Relationship > Interactions from Text Mining |
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