SMARCB1
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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 OMIM IDMIM:601607 Ensembl IDEnsembl:ENSG00000099956 HGNC IDHGNC:HGNC:11103 PHARMGKB IDPA35953 Map Location22q11.23|22q11 | |||||
GO terms in SMARCB1
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | HDA | GO:0000980 | RNA polymerase II distal enhancer sequence-specific DNA binding |
| MF | IMP | GO:0001164 | RNA polymerase I CORE element sequence-specific DNA binding |
| MF | IPI | GO:0002039 | p53 binding |
| MF | IDA | GO:0003677 | DNA binding |
| MF | IMP | GO:0003713 | transcription coactivator activity |
Gene expression in normal tissue: SMARCB1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SMARCB1
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | hswisnfpathway | chromatin remodeling by hswi/snf atp-dependent complexes |
| biocarta | pcafpathway | the information processing pathway at the ifn beta enhancer |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-3214858 | RMTs methylate histone arginines |
| reactome | R-HSA-3247509 | Chromatin modifying enzymes |
| reactome | R-HSA-4839726 | Chromatin organization |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SMARCB1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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