Browse SMARCB1

Summary
SymbolSMARCB1
NameSWI/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 ......
Chromosomal Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Basic function annotation.
> Subcellular Location, Domain and Function
> Gene Ontology
> KEGG and Reactome Pathway
> Subcellular Location, Domain and Function
 
Subcellular Location Nucleus.
Domain PF04855 SNF5 / SMARCB1 / INI1
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.

> Gene Ontology
 
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 and Reactome Pathway
 
KEGG -
Reactome R-HSA-3247509: Chromatin modifying enzymes
R-HSA-4839726: Chromatin organization
R-HSA-3214858: RMTs methylate histone arginines
Summary
SymbolSMARCB1
NameSWI/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 ......
Chromosomal Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Literatures that report relations between SMARCB1 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.
> Text Mining
 

There is no record.
Summary
SymbolSMARCB1
NameSWI/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 ......
Chromosomal Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.
> High-throughput Screening
  Statistical results of SMARCB1 in screening data sets for detecting immune reponses.
PMID Screening System Cancer Type Cell Line Data Set Statistical Results Relation to immunity
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell NA/NS NA/NS
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NS NA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR Second most enriched score: 0.66 Sensitive to T cell-mediated killing
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NS NA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NS NA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NS NA/NS
24476824shRNAmelanomaB16Primary screen NA/NS NA/NS
24476824shRNAmelanomaB16Secondary screen NA/NS NA/NS
Summary
SymbolSMARCB1
NameSWI/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 ......
Chromosomal Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets.
> Expression difference between responders and non-responders
> Mutation difference between responders and non-responders
> Expression difference between responders and non-responders
 
Points in the above scatter plot represent the expression difference of SMARCB1 in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)1412-0.3180.214
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)65-0.3880.88
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)87-0.2760.891
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 916-0.0440.862
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59-0.1260.946
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470.0590.98
729033130MelanomaallAnti-PD-1 (nivolumab) 2623-0.0360.922
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 1511-0.1220.942
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 11120.0940.959
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 48-0.0810.962
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 280.1720.946
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 682300.0540.364
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of SMARCB1 in various data sets.
No PMID Cancer type Group Drug # Res # NRes % Mut/Res % Mut/NRes % Diff (R vs NR) Pval Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 14170001
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 1030001
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 4140001
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 27730001
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 27590001
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)21174.804.81
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)860001
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)13117.707.71
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 91611.16.24.91
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590001
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 472514.310.71
1329033130MelanomaallAnti-PD-1 (nivolumab) 38270001
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22130001
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16140001
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11139.109.10.458
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 6116.7016.71
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 5120001
Summary
SymbolSMARCB1
NameSWI/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 ......
Chromosomal Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of SMARCB1. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.
> Lymphocyte
 
Summary
SymbolSMARCB1
NameSWI/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 ......
Chromosomal Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of SMARCB1. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by SMARCB1.
> Immunoinhibitor
> Immunostimulator
> MHC molecule
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolSMARCB1
NameSWI/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 ......
Chromosomal Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of SMARCB1. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene.
> Chemokine
> Receptor
> Chemokine
 
> Receptor
 
Summary
SymbolSMARCB1
NameSWI/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 ......
Chromosomal Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of SMARCB1 expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolSMARCB1
NameSWI/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 ......
Chromosomal Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between SMARCB1 and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolSMARCB1
NameSWI/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 ......
Chromosomal Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting SMARCB1 collected from DrugBank database.
> Drugs from DrugBank database
 

There is no record.