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SMARCA4
a core component of multiprotein chromatin-remodeling complexes that regulate transcriptional activation and repression of select genes by ATP-dependent chromatin remodeling (alteration of DNA-nucleosome topology). Is a component of remodeling complexes including Swi/Snf-A (BAF), Swi/Snf-B (PBAF), Brm, WINAC and Brg1. Each complex contains a catalytic subunit (either SMARCA4 or SMARCA2), and at least SMARCE1, BAF53A or BAF53B, SMARCC2 and SMARCB1. SWI/SNF complexes are required for mammalian development and are mutated in ~20% of all human primary tumors. Belongs to the neural progenitor-specific and the neuron-specific chromatin remodeling complexes (npBAF and nBAF, respectively). Transcriptional coactivator of nuclear hormone receptors. Colocalizes with ZEB1 in stroma of normal colon as well as in de-differentiated epithelial cells at the invasion front of colorectal carcinomas. Acts as a corepressor of ZEB1 to regulate E-cadherin transcription and is required for induction of epithelial-mesenchymal transition (EMT) by ZEB1. Can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. SMARCA4, in consort with ZEB1, represses the transcription of E-cadherin and promotes the epithelial-to-mesenchymal transition (EMT). Required for stem cell maintenance in the mouse intestinal epithelium. Its loss inhibits aberrant Wnt-signaling and prevents tumorigenesis in the mouse small intestine. SMARCA4 mutations are the cause of a familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood. Belongs to the SNF2/RAD54 helicase family. The human protein includes 5 isoforms produced by alternative splicing. Note: This description may include information from UniProtKB.
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| Protein type: Cell cycle regulation; EC 3.6.1.-; EC 3.6.4.-; Helicase; Nuclear receptor co-regulator; Transcription, coactivator/corepressor; Tumor suppressor |
| Chromosomal Location of human Ortholog: 19p13.2 |
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Cellular Component:
bBAF complex; chromatin; fibrillar center; GBAF complex; kinetochore; nBAF complex; npBAF complex; nuclear matrix; nucleolus; nucleoplasm; nucleus; RSC-type complex; SWI/SNF complex
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Molecular Function:
ATP binding; ATP-dependent activity, acting on DNA; ATP-dependent chromatin remodeler activity; DNA binding; DNA polymerase binding; helicase activity; hydrolase activity; lysine-acetylated histone binding; nuclear androgen receptor binding; p53 binding; protein binding; RNA binding; RNA polymerase I core promoter sequence-specific DNA binding; Tat protein binding; transcription coactivator activity; transcription coregulator binding; transcription corepressor activity; transcription factor binding
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Biological Process:
chromatin remodeling; negative regulation of androgen receptor signaling pathway; negative regulation of cell differentiation; negative regulation of cell growth; negative regulation of DNA-templated transcription; negative regulation of transcription by RNA polymerase II; nervous system development; neural retina development; nucleosome disassembly; positive regulation by host of viral transcription; positive regulation of cell differentiation; positive regulation of cell population proliferation; positive regulation of cold-induced thermogenesis; positive regulation of DNA-binding transcription factor activity; positive regulation of DNA-templated transcription; positive regulation of double-strand break repair; positive regulation of glucose mediated signaling pathway; positive regulation of miRNA transcription; positive regulation of myoblast differentiation; positive regulation of stem cell population maintenance; positive regulation of T cell differentiation; positive regulation of transcription by RNA polymerase II; positive regulation of transcription of nucleolar large rRNA by RNA polymerase I; positive regulation of Wnt signaling pathway; regulation of G0 to G1 transition; regulation of G1/S transition of mitotic cell cycle; regulation of mitotic metaphase/anaphase transition; regulation of nucleotide-excision repair; regulation of transcription by RNA polymerase II; RNA polymerase I preinitiation complex assembly; transcription initiation-coupled chromatin remodeling
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Disease: Desbuquois Dysplasia 2; Mental Retardation, Autosomal Dominant 16; Otosclerosis 12; Rhabdoid Tumor Predisposition Syndrome 2; Tetralogy Of Fallot
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Reference #:
P51532
(UniProtKB)
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Alt. Names/Synonyms: ATP-dependent helicase SMARCA4; BAF190; BAF190A; brahma protein-like 1; BRG1; BRG1-associated factor 190A; BRM/SWI2-related gene 1; CSS4; FLJ39786; global transcription activator homologous sequence; homeotic gene regulator; hSNF2b; Mitotic growth and transcription activator; MRD16; nuclear protein GRB1; Protein brahma homolog 1; Protein BRG-1; RTPS2; SMARCA4; SMCA4; SNF2; SNF2-beta; SNF2-like 4; SNF2B; SNF2L4; SNF2LB; sucrose nonfermenting-like 4; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4; SWI2; Transcription activator BRG1
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Gene Symbols: SMARCA4
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Molecular weight:
184,646 Da
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Basal Isoelectric point:
7.83
Predict pI for various phosphorylation states
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Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology®
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