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Bloom Syndrome (gene)
Bloom syndrome protein is a protein that in humans is encoded by the ''BLM'' gene and is not expressed in Bloom syndrome. The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3' → 5' helicase activity. The normal protein may act to suppress inappropriate homologous recombination. Meiosis Genetic recombination, Recombination during meiosis is often initiated by a DNA double-strand break (DSB). During recombination, sections of DNA at the Directionality (molecular biology), 5' ends of the break are cut away in a process called resection. In the strand invasion step that follows, an overhanging Directionality (molecular biology), 3' end of the broken DNA molecule then "invades" the DNA of an homologous chromosome that is not broken. After strand invasion, the further sequenc ... [...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] |
Werner Syndrome ATP-dependent Helicase
Werner may refer to: People * Werner (name), origin of the name and people with this name as surname and given name Fictional characters * Werner (comics), a German comic book character * Werner Von Croy, a fictional character in the ''Tomb Raider'' series * Werner von Strucker, a fictional character in the Marvel Comics universe * Werner, a fictional character in '' Darwin's Soldiers'' * Werner Ziegler, a fictional character from tv show Better Call Saul Geography *Werner, West Virginia * Mount Werner, a mountain that includes the Steamboat Ski Resort, in the Park Range of Colorado * Werner (crater), a crater in the south-central highlands of the Moon * Werner projection, an equal-area map projection preserving distances along parallels, central meridian and from the North pole Companies * Carsey-Werner, an American television and film production studio * Werner Enterprises, a Nebraska-based trucking company * Werner Co., a manufacturer of ladders * Werner Motors, an early aut ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TP53BP1
Tumor suppressor p53-binding protein 1 also known as p53-binding protein 1 or 53BP1 is a protein that in humans is encoded by the ''TP53BP1'' gene. Clinical significance 53BP1 is underexpressed in most cases of triple-negative breast cancer. DNA repair DNA double-strand breaks (DSBs) are cytotoxic damages that can be repaired either by the homologous recombinational repair (HR) pathway or by the non-homologous end-joining (NHEJ) pathway. NHEJ, although faster than HR, is less accurate. The early divergent step between the two pathways is end resection, and this step is regulated by numerous factors. In particular, BRCA1 and 53BP1 play a role in determining the balance between the two pathways. 53BP1 restricts resection and promotes NHEJ. Age-associated deficient repair Ordinarily during the G1 phase of the cell cycle, when a sister chromatid is unavailable for HR, NHEJ is the predominant pathway for repairing DNA double-strand breaks (DSBs). However, as individuals age, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TOP3A
DNA topoisomerase 3-alpha is an enzyme that in humans is encoded by the ''TOP3A'' gene. Function This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. Meiosis Recombination during meiosis is often initiated by a DNA double-strand break (DSB). During recombination, sections of DNA at the 5' ends of the break are cut away in a process called ''resection''. In the ''strand invasion'' step that follows, an overhanging 3' end of the broken DNA molecule then "invades" the DNA of an homologous chromosome that is not broken forming a displacement loop (D-loop). After strand invasion, the further seque ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Replication Protein A1
Replication protein A 70 kDa DNA-binding subunit is a protein that in humans is encoded by the ''RPA1'' gene. Interactions Replication protein A1 has been shown to interact with: * BRCA2, * BLM, * MCM2, * MCM4, * MCM6, * MCM7, * MUTYH, * ORC2L, * ORC6L, * P53, * RPA2, * RPA3, * TIPIN, * TP53BP1, and * XPA. See also * Replication protein A * Replication protein A2 * Replication protein A3 * Single-stranded binding protein Single-stranded binding proteins (SSBs) are a class of proteins that have been identified in both viruses and organisms from bacteria to humans. Viral SSB Although the overall picture of ''human cytomegalovirus'' (HHV-5) DNA synthesis appears ... References Further reading * * * * * * * * * * * * * * * * * * {{DNA replication ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RAD51
DNA repair protein RAD51 homolog 1 is a protein encoded by the gene ''RAD51''. The enzyme encoded by this gene is a member of the RAD51 protein family which assists in repair of DNA double strand breaks. RAD51 family members are homologous to the bacterial RecA, Archaeal RadA and yeast Rad51. The protein is highly conserved in most eukaryotes, from yeast to humans. Variants Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. Transcript variants utilizing alternative polyA signals exist. Family In mammals, seven recA-like genes have been identified: Rad51, Rad51L1/B, Rad51L2/C, Rad51L3/D, XRCC2, XRCC3, and DMC1/Lim15. All of these proteins, with the exception of meiosis-specific DMC1, are essential for development in mammals. Rad51 is a member of thRecA-like NTPases Function In humans, RAD51 is a 339-amino acid protein that plays a major role in homologous recombination of DNA during double strand break r ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RAD51L3
DNA repair protein RAD51 homolog 4 is a protein that in humans is encoded by the ''RAD51L3'' gene. Function The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, which are known to be involved in the homologous recombination and repair of DNA. This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein complex formed with this protein has been shown to catalyze homologous pairing between single- and double-stranded DNA, and is thought to play a role in the early stage of recombinational repair of DNA. Several alternatively spliced transcript variants of this gene have been described, but the biological validity of some of them has not been determined. Interactions RAD51L3 has been shown to interact with: * Bloom syndrome protein, * RAD51C, and * XRCC2 DNA repair protein XRCC2 is a protein that ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MLH1
DNA mismatch repair protein Mlh1 or MutL protein homolog 1 is a protein that in humans is encoded by the MLH1 gene located on chromosome 3. It is a gene commonly associated with hereditary nonpolyposis colorectal cancer. Orthologs of human MLH1 have also been studied in other organisms including mouse and the budding yeast ''Saccharomyces cerevisiae''. Function This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer. It is a human homolog of the ''E. coli'' DNA mismatch repair gene, mutL, which mediates protein-protein interactions during mismatch recognition, strand discrimination, and strand removal. Defects in MLH1 are associated with the microsatellite instability observed in hereditary nonpolyposis colon cancer. Alternatively spliced transcript variants encoding different isoforms have been described, but their full-length natures have not been determined. Role in DNA mismatch repair MLH1 protein is one component of a system of seve ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
H2AFX
H2A histone family member X (usually abbreviated as H2AX) is a type of histone protein from the H2A family encoded by the ''H2AFX'' gene. An important phosphorylated form is γH2AX (S139), which forms when double-strand breaks appear. In humans and other eukaryotes, the DNA is wrapped around histone octamers, consisting of core histones H2A, H2B, H3 and H4, to form chromatin. H2AX contributes to nucleosome-formation, chromatin-remodeling and DNA repair, and is also used ''in vitro'' as an assay for double-strand breaks in dsDNA. Formation of γH2AX H2AX becomes phosphorylated on serine 139, then called γH2AX, as a reaction on DNA double-strand breaks (DSB). The kinases of the PI3-family ( Ataxia telangiectasia mutated, ATR and DNA-PKcs) are responsible for this phosphorylation, especially ATM. The modification can happen accidentally during replication fork collapse or in the response to ionizing radiation but also during controlled physiological processes such as V(D)J ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Flap Structure-specific Endonuclease 1
Flap endonuclease 1 is an enzyme that in humans is encoded by the ''FEN1'' gene. Function The protein encoded by this gene removes 5' overhanging "flaps" (or short sections of single stranded DNA that "hang off" because their nucleotide bases are prevented from binding to their complementary base pair—despite any base pairing downstream) in DNA repair and processes the 5' ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical interaction between this protein and AP endonuclease 1 during long-patch base excision repair provides coordinated loading of the proteins onto the substrate, thus passing the substrate from one enzyme to another. The protein is a member of the XPG/RAD2 endonuclease family and is one of ten proteins essential for cell-free DNA replication. DNA secondary structure can inhibit flap processing at certain trinucleotide repeats in a length-dependent manner by concealing the 5' end of the flap that is necessary for both binding and cleavage ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FANCM
Fanconi anemia, complementation group M, also known as FANCM is a human gene. It is an emerging target in cancer therapy, in particular cancers with specific genetic deficiencies. Function The protein encoded by this gene, FANCM displays DNA binding against fork structures and an ATPase activity associated with DNA branch migration. It is believed that FANCM in conjunction with other Fanconi anemia- proteins repair DNA at stalled replication forks, and stalled transcription structures called R-loops. The structure of the C-terminus of FANCM (amino acids 1799-2048), bound to a partner protein FAAP24, reveals how the protein complex recognises branched DNA. A structure of amino acids 675-790 of FANCM reveal how the protein binds duplex DNA through a remodeling of the MHF1:MHF2 histone-like protein complex. Disease association Bi-allelic mutations in the FANCM gene were originally associated with Fanconi anemia, although several individuals with FANCM deficiency do not appear to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
