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ARID1B
AT-rich interactive domain-containing protein 1B is a protein that in humans is encoded by the ''ARID1B'' gene. ARID1B is a component of the human SWI/SNF chromatin remodeling complex. Clinical significance Germline mutations in ARID1B are associated with Coffin–Siris syndrome. Somatic mutations in ARID1B are associated with several cancer subtypes, suggesting that it is a tumor suppressor gene. Interactions ARID1B has been shown to interact with SMARCA4 and 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 o .... References Further reading * * * * * * * * * * * * * * * * * * * External links * * {{NLM content Transcription factors ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coffin–Siris Syndrome
Coffin–Siris Syndrome (CSS), first described in 1970 by Dr Coffin and Dr Siris, is a rare genetic disorder that causes developmental delays and absent fifth finger and toe nails. There had been 31 reported cases by 1991. The number of occurrences since then has grown and is now reported to be around 200. The differential includes Nicolaides–Baraitser syndrome. Presentation * mild to moderate to severe intellectual disability, also called "developmental disability" * short fifth digits with hypoplastic or absent nails * low birth weight * feeding difficulties upon birth * frequent respiratory infections during infancy * hypotonia * joint laxity * delayed bone age * microcephaly * coarse facial features, including wide nose, wide mouth, and thick eyebrows and lashes Causes Disease can be inherited as an Dominance (genetics), autosomal dominant trait, however most cases of CSS appear to be the result of a de novo mutation. This syndrome has been associated with mutations in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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'' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
