SMARCB1
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SMARCB1
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a protein that in humans is encoded by the ''SMARCB1'' gene. Function 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. Interactions SMARCB1 has been shown to interact with: * ARID1A, * BAZ1B, * BRCA1, * CREB-binding protein, * Cyclin-dependent kinase 8, * Myc, * P53, * POLR2A, * PPP1CA, * PPP1CB, * PPP1CC, * PPP1R15A, * SMARCA2, * SMARCA4, * SMARCC1, * SMARCE1, * SS18, and * XPO1 Exportin 1 (XPO1), also known as chromosomal region ...
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SWI/SNF
In molecular biology, SWI/SNF (SWItch/Sucrose Non-Fermentable), is a subfamily of ATP-dependent chromatin remodeling complexes, which is found in eukaryotes. In other words, it is a group of proteins that associate to remodel the way DNA is packaged. This complex is composed of several proteins – products of the SWI and SNF genes (, /, , , ), as well as other polypeptides. It possesses a DNA-stimulated ATPase activity that can destabilize histone-DNA interactions in reconstituted nucleosomes in an ATP-dependent manner, though the exact nature of this structural change is unknown. The SWI/SNF subfamily provides crucial nucleosome rearrangement, which is seen as ejection and/or sliding. The movement of nucleosomes provides easier access to the chromatin, allowing genes to be activated or repressed. The human analogs of SWI/SNF are "BRG1- or BRM-associated factors", or BAF (SWI/SNF-A) and "Polybromo-associated BAF", which is also known as PBAF (SWI/SNF-B). There are also ''Drosop ...
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Rhabdoid Tumor
Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of Wilms' tumour, which is primarily a kidney tumour that occurs mainly in children. MRT was first described as a variant of Wilms' tumour of the kidney in 1978. MRTs are a rare and highly malignant childhood neoplasm. Rhabdoid tumours outside the kidney were later reported in many tissues including the liver, soft tissue, and the central nervous system. Several cases of primary intracranial MRT have been reported since its recognition as a separate entity in 1978. The term ''rhabdoid'' was used due to its similarity with rhabdomyosarcoma under the light microscope. The exact pathogenesis of MRT is unknown. The cerebellum is the most common location for primary intracerebral MRT (i.e., atypical teratoid rhabdoid tumor). Biggs ''et al.'' were first to report a primary intracranial MRT around 1987. Although the cell of origin is not known, cytogenetic studies have suggested a com ...
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PPP1CB
Serine/threonine-protein phosphatase PP1-beta catalytic subunit is an enzyme that in humans is encoded by the ''PPP1CB'' gene. The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. Interactions PPP1CB has been shown to interact with PPP1R15A, Nucleolin, SMARCB1 and PPP1R9B Neurabin-2 is a protein that in humans is encoded by the ''PPP1R9B'' gene. Spinophilin is a regulatory subunit of protein phosphatase-1 catalytic subunit (PP1; see MIM 176875) and is highly enriched in dendritic spines, specialized protrusions fr .. ...
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SS18
Protein SSXT is a protein that in humans is encoded by the ''SS18'' gene. Function SS18 is a member of the human SWI/SNF chromatin remodeling complex. Clinical significance SS18 is involved in a chromosomal translocation commonly found in synovial sarcoma. Interactions SS18 has been shown to interact with: * EP300, * MLLT10, * SMARCA2, and * SMARCB1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a protein that in humans is encoded by the ''SMARCB1'' gene. Function The protein encoded by this gene is part of a complex that relieves repressiv .... References Further reading

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SMARCE1
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 is a protein that in humans is encoded by the ''SMARCE1'' gene. Function The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. Interactions SMARCE1 has been shown to interact with Estrogen receptor alpha, SMARCB1 and SMARCA4 Transcription activator BRG1 also known as ATP-dependent chromatin remodeler SMARCA4 is ...
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SMARCC1
SWI/SNF complex subunit SMARCC1 is a protein that in humans is encoded by the ''SMARCC1'' gene. Function The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SWI/SNF and contains a predicted leucine zipper motif typical of many transcription factors. Interactions SMARCC1 has been shown to interact with: * BAZ1B, * ING1, * SIN3A, * SMARCA2, * SMARCA4, and * SMARCB1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a protein that in humans is encoded by the ''SMARCB1'' gene. Function The protein encoded by this gene is part of a complex that relieves repressiv .... References Further reading * * * * * * * * * * * * * * * ...
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SMARCA4
Transcription activator BRG1 also known as ATP-dependent chromatin remodeler SMARCA4 is a protein that in humans is encoded by the ''SMARCA4'' gene. Function The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. BRG1 works to activate or repress transcription. Having functional BRG1 is important for development past the pre-implantation stage. Without having a functional BRG1, exhibited with knockout research, the embryo will not hatch out of ...
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SMARCA2
Probable global transcription activator SNF2L2 is a protein that in humans is encoded by the ''SMARCA2'' gene. Function The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Two transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. Interactions SMARCA2 has been shown to interact with: * ACTL6A, * ARID1B, * CEBPB, * POLR2A, * Prohibitin, * SIN3A, * SMARCB1, * SMARCC1, and * SS18 Protein SSXT is a protein that in humans is encoded by the ''SS18'' ...
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PPP1R15A
Protein phosphatase 1 regulatory subunit 15A also known as growth arrest and DNA damage-inducible protein GADD34 is a protein that in humans is encoded by the ''PPP1R15A'' gene. The Gadd34/MyD116 gene was originally discovered as a member in a set of gadd and MyD mammalian genes encoding acidic proteins that synergistically suppress cell growth. Later on it has been characterized as a gene playing a role in ER stress-induced cell death, being a target of ATF4 that plays a role in ER-mediated cell death via promoting protein dephosphorylation of eIF2α and reversing translational inhibition. Function This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. Interactions PPP1R15A has bee ...
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PPP1CC
Serine/threonine-protein phosphatase PP1-gamma catalytic subunit is an enzyme that in humans is encoded by the ''PPP1CC'' gene. Interactions PPP1CC has been shown to interact with PPP1R15A, SMARCB1, TLX1 and PPP1R9B Neurabin-2 is a protein that in humans is encoded by the ''PPP1R9B'' gene. Spinophilin is a regulatory subunit of protein phosphatase-1 catalytic subunit (PP1; see MIM 176875) and is highly enriched in dendritic spines, specialized protrusions fr .... References Further reading

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POLR2A
DNA-directed RNA polymerase II subunit RPB1, also known as RPB1, is an enzyme that in humans is encoded by the ''POLR2A'' gene. Function This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA-binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. Interactions POLR2A has been shown to interact with: * BRCA1, * CREBBP, * CTDP1, * CDK8, * GTF2B, * GTF2F1, * GTF2H4, * MED21, * MED26, * PCAF, * POLR2C, * POLR2E, * POLR2H, * POLR2L, * PQBP1, * SMARCA2, * SMARCA4 * SMARCB1, * SMYD3, * SND1, * SUPT5H, * ...
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PPP1CA
Serine/threonine-protein phosphatase PP1-alpha catalytic subunit is an enzyme that in humans is encoded by the ''PPP1CA'' gene. Function The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Increased PP1 activity has been observed in the end stage of heart failure. Studies in both human and mice suggest that PP1 is an important regulator of cardiac function. Mouse studies also suggest that PP1 functions as a suppressor of learning and memory. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. Interactive pathway map Interactions PPP1CA has been shown to interact with: * AKAP11, * BCL2-like 1, * BCL2L2, * BRCA1, * CDC5L, ...
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