Fanconi Anemia Complementation Group F Protein: A Fanconi anemia complementation group protein. It is an essential component of a nuclear core complex that protects the GENOME against CHROMOSOMAL INSTABILITY. It interacts directly with FANCG PROTEIN and helps stabilize a complex with FANCA PROTEIN and FANCC PROTEIN.Fanconi Anemia Complementation Group C Protein: A Fanconi anemia complementation group protein that regulates the activities of CYTOCHROME P450 REDUCTASE and GLUTATHIONE S-TRANSFERASE. It is found predominately in the CYTOPLASM, but moves to the CELL NUCLEUS in response to FANCE PROTEIN.Fanconi Anemia Complementation Group Proteins: A diverse group of proteins whose genetic MUTATIONS have been associated with the chromosomal instability syndrome FANCONI ANEMIA. Many of these proteins play important roles in protecting CELLS against OXIDATIVE STRESS.Fanconi Anemia: Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)Fanconi Anemia Complementation Group A Protein: A Fanconi anemia complementation group protein that is the most commonly mutated protein in FANCONI ANEMIA. It undergoes PHOSPHORYLATION by PROTEIN KINASE B and forms a complex with FANCC PROTEIN in the CELL NUCLEUS.Fanconi Anemia Complementation Group D2 Protein: A Fanconi anemia complementation group protein that undergoes mono-ubiquitination by FANCL PROTEIN in response to DNA DAMAGE. Also, in response to IONIZING RADIATION it can undergo PHOSPHORYLATION by ataxia telangiectasia mutated protein. Modified FANCD2 interacts with BRCA2 PROTEIN in a stable complex with CHROMATIN, and it is involved in DNA REPAIR by homologous RECOMBINATION.Fanconi Anemia Complementation Group E Protein: A Fanconi anemia complementation group protein that interacts with FANCC PROTEIN and FANCD2 PROTEIN. It promotes the accumulation of FANCC protein in the CELL NUCLEUS.Fanconi Anemia Complementation Group L Protein: An E3 UBIQUITIN LIGASE that plays a key role in the DNA damage response pathway of FANCONI ANEMIA PROTEINS. It is associated with mono-ubiquitination of FANCD2 PROTEIN and the redistribution of FANCD2 to nuclear foci containing BRCA1 PROTEIN.Mitomycin: An antineoplastic antibiotic produced by Streptomyces caespitosus. It is one of the bi- or tri-functional ALKYLATING AGENTS causing cross-linking of DNA and inhibition of DNA synthesis.Fanconi Anemia Complementation Group G Protein: A Fanconi anemia complementation group protein that undergoes PHOSPHORYLATION by CDC2 PROTEIN KINASE during MITOSIS. It forms a complex with other FANCONI ANEMIA PROTEINS and helps protect CELLS from DNA DAMAGE by genotoxic agents.DNA Repair: The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.Genetic Complementation Test: A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.Nuclear Proteins: Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.DNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.Fanconi Syndrome: A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA.Anemia: A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.Cockayne Syndrome: A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.Mad2 Proteins: Mad2 is a component of the spindle-assembly checkpoint apparatus. It binds to and inhibits the Cdc20 activator subunit of the anaphase-promoting complex, preventing the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. Mad2 is required for proper microtubule capture at KINETOCHORES.Spindle Apparatus: A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.M Phase Cell Cycle Checkpoints: The cellular signaling system that halts the progression of cells through MITOSIS or MEIOSIS if a defect that will affect CHROMOSOME SEGREGATION is detected.DNA-Directed DNA Polymerase: DNA-dependent DNA polymerases found in bacteria, animal and plant cells. During the replication process, these enzymes catalyze the addition of deoxyribonucleotide residues to the end of a DNA strand in the presence of DNA as template-primer. They also possess exonuclease activity and therefore function in DNA repair.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.Cell Cycle Proteins: Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.Nucleotidyltransferases: A class of enzymes that transfers nucleotidyl residues. EC 2.7.7.Antibodies: Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the ANTIGEN (or a very similar shape) that induced their synthesis in cells of the lymphoid series (especially PLASMA CELLS).BRCA1 Protein: The phosphoprotein encoded by the BRCA1 gene (GENE, BRCA1). In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (Science 1995;270(5237):713,789-91)Genes, BRCA1: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways.Antibody Specificity: The property of antibodies which enables them to react with some ANTIGENIC DETERMINANTS and not with others. Specificity is dependent on chemical composition, physical forces, and molecular structure at the binding site.BRCA2 Protein: A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)Antibodies, Monoclonal: Antibodies produced by a single clone of cells.Antibodies, Viral: Immunoglobulins produced in response to VIRAL ANTIGENS.Authorship: The profession of writing. Also the identity of the writer as the creator of a literary production.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)MedlinePlus: NATIONAL LIBRARY OF MEDICINE service for health professionals and consumers. It links extensive information from the National Institutes of Health and other reviewed sources of information on specific diseases and conditions.Enzyme-Linked Immunosorbent Assay: An immunoassay utilizing an antibody labeled with an enzyme marker such as horseradish peroxidase. While either the enzyme or the antibody is bound to an immunosorbent substrate, they both retain their biologic activity; the change in enzyme activity as a result of the enzyme-antibody-antigen reaction is proportional to the concentration of the antigen and can be measured spectrophotometrically or with the naked eye. Many variations of the method have been developed.Reagent Kits, Diagnostic: Commercially prepared reagent sets, with accessory devices, containing all of the major components and literature necessary to perform one or more designated diagnostic tests or procedures. They may be for laboratory or personal use.Sensitivity and Specificity: Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed)Reindeer: A genus of deer, Rangifer, that inhabits the northern parts of Europe, Asia, and America. Caribou is the North American name; reindeer, the European. They are often domesticated and used, especially in Lapland, for drawing sleds and as a source of food. Rangifer is the only genus of the deer family in which both sexes are antlered. Most caribou inhabit arctic tundra and surrounding arboreal coniferous forests and most have seasonal shifts in migration. They are hunted extensively for their meat, skin, antlers, and other parts. (From Webster, 3d ed; Walker's Mammals of the World, 5th ed, p1397)Hematopoietic Stem Cells: Progenitor cells from which all blood cells derive.Receptors, Notch: A family of conserved cell surface receptors that contain EPIDERMAL GROWTH FACTOR repeats in their extracellular domain and ANKYRIN repeats in their cytoplasmic domains. The cytoplasmic domain of notch receptors is released upon ligand binding and translocates to the CELL NUCLEUS where it acts as transcription factor.Receptor, Notch2: A notch receptor that plays an important role in CELL DIFFERENTIATION in a variety of cell types. It is the preferentially expressed notch receptor in mature B-LYMPHOCYTES.Goats: Any of numerous agile, hollow-horned RUMINANTS of the genus Capra, in the family Bovidae, closely related to the SHEEP.Peptides: Members of the class of compounds composed of AMINO ACIDS joined together by peptide bonds between adjacent amino acids into linear, branched or cyclical structures. OLIGOPEPTIDES are composed of approximately 2-12 amino acids. Polypeptides are composed of approximately 13 or more amino acids. PROTEINS are linear polypeptides that are normally synthesized on RIBOSOMES.ArchivesBiological Science Disciplines: All of the divisions of the natural sciences dealing with the various aspects of the phenomena of life and vital processes. The concept includes anatomy and physiology, biochemistry and biophysics, and the biology of animals, plants, and microorganisms. It should be differentiated from BIOLOGY, one of its subdivisions, concerned specifically with the origin and life processes of living organisms.Periodicals as Topic: A publication issued at stated, more or less regular, intervals.Melanoma: A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)PubMed: A bibliographic database that includes MEDLINE as its primary subset. It is produced by the National Center for Biotechnology Information (NCBI), part of the NATIONAL LIBRARY OF MEDICINE. PubMed, which is searchable through NLM's Web site, also includes access to additional citations to selected life sciences journals not in MEDLINE, and links to other resources such as the full-text of articles at participating publishers' Web sites, NCBI's molecular biology databases, and PubMed Central.Directories as Topic: Lists of persons or organizations, systematically arranged, usually in alphabetic or classed order, giving address, affiliations, etc., for individuals, and giving address, officers, functions, and similar data for organizations. (ALA Glossary of Library and Information Science, 1983)Publishing: "The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing.Sorting Nexins: A large family of phosphatidylinositol phosphate-binding proteins that are involved in mediating intracellular transport and sorting of proteins via a variety of endocytic pathways.Knowledge Bases: Collections of facts, assumptions, beliefs, and heuristics that are used in combination with databases to achieve desired results, such as a diagnosis, an interpretation, or a solution to a problem (From McGraw Hill Dictionary of Scientific and Technical Terms, 6th ed).Protease Nexins: Extracellular protease inhibitors that are secreted from FIBROBLASTS. They form a covalent complex with SERINE PROTEASES and can mediate their cellular internalization and degradation.Editorial Policies: The guidelines and policy statements set forth by the editor(s) or editorial board of a publication.Scientific Misconduct: Intentional falsification of scientific data by presentation of fraudulent or incomplete or uncorroborated findings as scientific fact.
"Entrez Gene: FANCL Fanconi anemia, complementation group L". D'Andrea AD (2010). "Susceptibility pathways in Fanconi's anemia ... The FA proteins interact through a multi-protein pathway. DNA interstrand crosslinks are highly deleterious damages that are ... 2005). "A Human Orthologue of Archaeal DNA Repair Protein Hef is Defective in Fanconi Anemia Complementation Group M". Nat. ... The clinical phenotype of mutational defects in all Fanconi anemia (FA) complementation groups is similar. This phenotype is ...
Fanconi anemia group B protein is a protein that in humans is encoded by the FANCB gene. The Fanconi anemia complementation ... The FANCB gene product is FANCB protein. FANCB is a component of a "core complex" of nine Fanconi Anemia proteins: FANCA, FANCB ... "Entrez Gene: FANCB Fanconi anemia, complementation group B". Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C, ... This gene encodes the protein for complementation group B. Alternative splicing results in two transcript variants encoding the ...
Fanconi anemia group D2 protein is a protein that in humans is encoded by the FANCD2 gene. The Fanconi anemia complementation ... "Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway". Mol. Cell. 7 (2): 249-62. doi:10.1016/s1097-2765(01) ... "Entrez Gene: FANCD2 Fanconi anemia, complementation group D2". D'Andrea AD (2010). "Susceptibility pathways in Fanconi's anemia ... This gene encodes the protein for complementation group D2. This protein is monoubiquitinated in response to DNA damage, ...
Mutations in the FANCI gene are known to cause Fanconi anemia. The Fanconi anemia complementation group (FANC) currently ... Fanconi anemia, complementation group I (FANCI) also known as KIAA1794, is a protein which in humans is encoded by the FANCI ... The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 8 (2): 85-95. doi: ... 2007). "Identification of the Fanconi anemia complementation group I gene, FANCI". Cell. Oncol. 29 (3): 211-8. PMID 17452773. ...
It has also been shown to bind to the Fanconi anemia, complementation group A protein. This gene results in two transcript ... 2001). "A large family of endosome-localized proteins related to sorting nexin 1". Biochem. J. 358 (Pt 1): 7-16. doi:10.1042/ ... binds to the Fanconi anemia complementation group A protein". Biochem Biophys Res Commun. 265 (3): 630-5. doi:10.1006/bbrc. ... Sorting nexin-5 is a protein that in humans is encoded by the SNX5 gene. This gene encodes a member of the sorting nexin family ...
Fanconi anemia group F protein is a protein that in humans is encoded by the FANCF gene. FANCF has been shown to interact with ... "Entrez Gene: FANCF Fanconi anemia, complementation group F". Léveillé F, Blom E, Medhurst AL, Bier P, Laghmani el H, Johnson M ... "Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway". Human Molecular Genetics. ... "A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M". Nature Genetics. ...
Fanconi anemia group E protein is a protein that in humans is encoded by the FANCE gene. The Fanconi anemia complementation ... "Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway". Hum. Mol. Genet. 10 (4): ... "Entrez Gene: FANCE Fanconi anemia, complementation group E". Taniguchi T, D'Andrea AD (Oct 2002). "The Fanconi anemia protein, ... "Isolation of a cDNA representing the Fanconi anemia complementation group E gene". Am J Hum Genet. 67 (5): 1306-8. doi:10.1016/ ...
... has been shown to interact with: Abl gene, FANCA, Fanconi anemia, complementation group C, GRIA2, Plectin, SHANK1, and ... "Synaptic scaffolding proteins in rat brain. Ankyrin repeats of the multidomain Shank protein family interact with the ... McMahon LW, Walsh CE, Lambert MW (November 1999). "Human alpha spectrin II and the Fanconi anemia proteins FANCA and FANCC ... Alpha II-spectrin, also known as Spectrin alpha chain, brain is a protein that in humans is encoded by the SPTAN1 gene. Alpha ...
Fanconi anemia, complementation group M, also known as FANCM is a human gene. The protein encoded by this gene, FANCM displays ... It is believed that FANCM in conjunction with other Fanconi anemia- proteins repair DNA at stalled replication forks, and ... September 2005). "A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M". ... MHF2 histone-like protein complex. Homozygous mutations in the FANCM gene are associated with Fanconi anemia, although several ...
... is a protein which in humans is encoded by the FANCA gene. It belongs to the Fanconi anaemia complementation group (FANC) ... "The fanconi anemia proteins FANCA and FANCG stabilize each other and promote the nuclear accumulation of the Fanconi anemia ... "Entrez Gene: FANCA Fanconi anemia, complementation group A". Dokal I (2006). "Fanconi's anaemia and related bone marrow failure ... The Fanconi Anaemia/Breast Cancer Consortium. (1996). "Positional cloning of the Fanconi anaemia group A gene". Nat. Genet. 14 ...
Fanconi anemia group G protein is a protein that in humans is encoded by the FANCG gene. FANCG, involved in Fanconi anemia, ... "Entrez Gene: FANCG Fanconi anemia, complementation group G". D'Andrea AD (2010). "Susceptibility pathways in Fanconi's anemia ... "The fanconi anemia proteins FANCA and FANCG stabilize each other and promote the nuclear accumulation of the Fanconi anemia ... The FANCG gene is responsible for complementation group G. The clinical phenotype of all Fanconi anemia (FA) complementation ...
... has been shown to interact with Fanconi anemia, complementation group C and MAPK8. GST-Pi is expressed in many human ... is a polymorphic gene encoding active, functionally different GSTP1 variant proteins that are thought to function in xenobiotic ... "Fanconi anemia group C protein prevents apoptosis in hematopoietic cells through redox regulation of GSTP1". Nat. Med. 7 (7): ... "Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative ...
CREB-binding protein, Calcitriol receptor, Epidermal growth factor receptor, Fanconi anemia, complementation group C, GNB2L1, ... "Interactions between STAT and non-STAT proteins in the interferon-stimulated gene factor 3 transcription complex". Molecular ... "The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality". Blood. 98 (5): 1392-401. ... Database, GeneCards Human Gene. "IRF9 Gene - GeneCards , IRF9 Protein , IRF9 Antibody". www.genecards.org. Retrieved 2017-06-01 ...
Fanconi anemia group C protein is a protein that in humans is encoded by the FANCC gene. The protein encoded by this gene ... McMahon LW, Walsh CE, Lambert MW (Nov 1999). "Human alpha spectrin II and the Fanconi anemia proteins FANCA and FANCC interact ... "Entrez Gene: FANCC Fanconi anemia, complementation group C". Garcia-Higuera I, Taniguchi T, Ganesan S, Meyn MS, Timmers C, ... "The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality". Blood. 98 (5): 1392-401. ...
FA patients with ERCC4 mutations have been classified as belonging to Fanconi anemia complementation group P (FANCP). ERCC4 ( ... The human ERCC4 gene encodes the XPF protein of 916 amino acids with a molecular mass of about 104,000 daltons. Genes similar ... DNA repair, involving high expression of ERCC4 (XPF), PMS2 and ERCC1 proteins, appears to be very active in colon crypts in ... Several human patients with symptoms of Fanconi anemia (FA) have causative mutations in the ERCC4 gene. Fanconi anemia is a ...
Li Y, Youssoufian H (1998). "MxA overexpression reveals a common genetic link in four Fanconi anemia complementation groups". J ... The protein encoded by this gene is similar to the mouse protein as determined by its antigenic relatedness, induction ... Horisberger MA (1992). "Interferon-induced human protein MxA is a GTPase which binds transiently to cellular proteins". J. ... Interferon-induced GTP-binding protein Mx1 is a protein that in humans is encoded by the MX1 gene. In mouse, the interferon- ...
Fanconi anemia complementation group C (FANCC), Thioredoxin interacting protein (TXNIP), CAVE interaction unspecific ? Vitamin ... Zinc finger and BTB domain-containing protein 32 is encoded by the ZBTB32 gene. The protein is a transcriptional repressor and ... as other UBZ containing proteins do with Ub-PCNA (REF). Fanconi Anemia GRCh38: Ensembl release 89: ENSG00000011590 - Ensembl, ... "A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF". Blood. 94 (11): ...
Dangel, NJ; Knoll, A; Puchta, H (2014). "MHF1 plays Fanconi anaemia complementation group M protein (FANCM)-dependent and FANCM ... Such genes include mei-41, mei-9, hdm, spnA, and brca2. This large group of conserved genes between processes supports the ... Mismatch repair (MMR) proteins, for instance, are a well-known regulatory family of proteins, responsible for regulating ... One such particular protein complex that is conserved between processes is RAD51, a well conserved recombinase protein that has ...
... and this gene restored UV resistance to cells of complementation group 1. The human ERCC1 gene encodes the ERCC1 protein of 297 ... and Fanconi anemia". American Journal of Human Genetics. 92 (5): 807-19. doi:10.1016/j.ajhg.2013.04.007. PMC 3644632 . PMID ... Hoeijmakers JH (1987). "Characterization of genes and proteins involved in excision repair of human cells". Journal of Cell ... "Entrez Gene: ERCC4 excision repair cross-complementing rodent repair deficiency, complementation group 4". Gregg SQ, Robinson ...
... biallelic mutations in BRCA1 have been identified to be responsible for Fanconi Anemia, Complementation Group S, a genetic ... BRCA1 is a human tumor suppressor gene (to be specific, a caretaker gene), found in all humans; its protein, also called by the ... "Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative ... "BRCA1 interacts directly with the Fanconi anemia protein FANCA". Hum. Mol. Genet. 11 (21): 2591-7. doi:10.1093/hmg/11.21.2591. ...
"Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2.6- ... Among the repair proteins with which XPA interacts is a protein complex (including the ERCC1 protein) that is capable of ... "Entrez Gene: XPA xeroderma pigmentosum, complementation group A". Sugitani N, Sivley RM, Perry KE, Capra JA, Chazin WJ (2016 ... DNA repair protein complementing XP-A cells is a protein that in humans is encoded by the XPA gene. Nucleotide excision repair ...
"Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative ... These two complexes control G1/S gene transcription; however, they are normally inactive. SBF is inhibited by the protein Whi5 ... "Complementation used to clone a human homologue of the fission yeast cell cycle control gene cdc2". Nature. 327 (6117): 31-35. ... "Phosphorylation by cdc2 kinase modulates DNA binding activity of high mobility group I nonhistone chromatin protein". J. Biol. ...
"Entrez Gene: ATM ataxia telangiectasia mutated (includes complementation groups A, C and D)". Lee JH, Paull TT (December 2007 ... "Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative ... It mediates protein-protein interaction for example with the histone acetyltransferase TIP60 (HIV-1 Tat interacting protein 60 ... Most other AT-like disorders are defective in genes encoding the MRN protein complex. One feature of the ATM protein is its ...
... biallelic mutations in BRCA1 have been identified to be responsible for Fanconi Anemia, Complementation Group S,[36] a genetic ... Breast cancer type 1 susceptibility protein is a protein that in humans is encoded by the BRCA1 (/ˌbrækəˈwʌn/) gene.[5] ... "BRCA1 gene tree". Ensembl.. *^ Duncan JA, Reeves JR, Cooke TG (October 1998). "BRCA1 and BRCA2 proteins: roles in health and ... "BRCA1 interacts directly with the Fanconi anemia protein FANCA". Hum. Mol. Genet. 11 (21): 2591-7. doi:10.1093/hmg/11.21.2591. ...
Protein domains in homologous recombination-related proteins are conserved across the three main groups of life: archaea, ... Fanconi anemia[edit]. Fanconi anemia (FA) is a hereditary condition characterized by cellular hypersensitivity to DNA cross- ... RAD51 is a eukaryotic gene. The enzyme encoded by this gene is a member of the RAD51 protein family which assists in repair of ... Dai J, Voloshin O, Potapova S, Camerini-Otero RD (2017). "Meiotic Knockdown and Complementation Reveals Essential Role of RAD51 ...
Dangel, NJ; Knoll, A; Puchta, H (2014). "MHF1 plays Fanconi anaemia complementation group M protein (FANCM)-dependent and FANCM ... Such genes include mei-41, mei-9, hdm, spnA, and brca2.[5] This large group of conserved genes between processes supports the ... Mismatch repair (MMR) proteins, for instance, are a well-known regulatory family of proteins, responsible for regulating ... One such particular protein complex that is conserved between processes is RAD51, a well conserved recombinase protein that has ...
Protein Coding), Fanconi Anemia Complementation Group C, including: function, proteins, disorders, pathways, orthologs, and ... FANCC (Fanconi Anemia Complementation Group C) is a Protein Coding gene. Diseases associated with FANCC include Fanconi Anemia ... Gene Families for FANCC Gene. HGNC:. *548 : Fanconi anemia complementation groups. Human Protein Atlas (HPA):. *Cancer-related ... Complementation Group C and Fanconi Anemia, Complementation Group A. Among its related pathways are Fanconi anemia pathway and ...
Protein Coding), Fanconi Anemia Complementation Group B, including: function, proteins, disorders, pathways, orthologs, and ... Entrez Gene Summary for FANCB Gene. * This gene encodes a member of the Fanconi anemia complementation group B. This protein is ... FANCB (Fanconi Anemia Complementation Group B) is a Protein Coding gene. Diseases associated with FANCB include Fanconi Anemia ... Domains & Families for FANCB Gene Gene Families for FANCB Gene. HGNC:. *548 : Fanconi anemia complementation groups ...
... complementation group G), Authors: Jean-Loup Huret. Published in: Atlas Genet Cytogenet Oncol Haematol. ... Chemical/Protein Interactions : CTD. 2189. Chemical/Pharm GKB Gene. PA28002. Clinical trial. FANCG. ... Fanconi anemia proteins localize to chromatin and the nuclear matrix in a DNA damage- and cell cycle-regulated manner.. ... Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia ...
DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in ... The Gene Wiki collection of pages on human genes and proteins. More...GeneWikii. Fanconi_anemia,_complementation_group_C. ... Fanconi anemia group C protein. Fanconi anemia group C protein (cDNA FLJ61092, highly similar to Fanconi anemia group C protein ... Fanconi anemia complementation group C isoform 2 (Fanconi anemia group C protein) ...
Fanconi anaemia (FA) is an autosomal recessive disorder associated with progressive bone-marrow failure, a variety of ... Fanconi Anemia / genetics* * Fanconi Anemia Complementation Group C Protein * Fanconi Anemia Complementation Group Proteins ... but the genes for the other complementation groups have not yet been identified. The group A gene (FAA) has recently been ... Positional cloning of the Fanconi anaemia group A gene Nat Genet. 1996 Nov;14(3):324-8. doi: 10.1038/ng1196-324. ...
Regulates TCF7L2-mediated gene transcription and may play a role in epithelial-mesenchymal transdifferentiation. ... Adapter protein able to interact with different proteins and involved in different biological processes. Mediates the ... Fanconi anemia, complementation group V (FANCV)1 Publication. ,p>Manually curated information for which there is published ... Protein. Similar proteins. Organisms. Length. Cluster ID. Cluster name. Size. Q9UI95. A0A024R4I4. F7DNN5. H9EQN4. H2PY08. ...
FANCD1 gene antibody. *Fanconi anemia complementation group D1 antibody. *Fanconi anemia group D1 protein antibody ... Proteins and Peptides. Proteomics tools. Agonists, activators, antagonists and inhibitors. Lysates. Multiplex miRNA assays. By ... Defects in BRCA2 are the cause of Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]. It is a disorder ... Breast and ovarian cancer susceptibility gene early onset antibody. *breast and ovarian cancer susceptibility protein 2 ...
Fanconi anemia group D2 protein is a protein that in humans is encoded by the FANCD2 gene. The Fanconi anemia complementation ... "Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway". Mol. Cell. 7 (2): 249-62. doi:10.1016/s1097-2765(01) ... "Entrez Gene: FANCD2 Fanconi anemia, complementation group D2". DAndrea AD (2010). "Susceptibility pathways in Fanconis anemia ... This gene encodes the protein for complementation group D2. This protein is monoubiquitinated in response to DNA damage, ...
wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary ... knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound ... Fanconi anemia, complementation group I. Homo sapiens. Synonyms: FLJ10719, Fanconi anemia group I protein, KIAA1794, Protein ... FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway. Ishiai, M., Kitao, H., ...
Mutations in the FANCI gene are known to cause Fanconi anemia. The Fanconi anemia complementation group (FANC) currently ... Fanconi anemia, complementation group I (FANCI) also known as KIAA1794, is a protein which in humans is encoded by the FANCI ... The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 8 (2): 85-95. doi: ... 2007). "Identification of the Fanconi anemia complementation group I gene, FANCI". Cell. Oncol. 29 (3): 211-8. PMID 17452773. ...
We combine protein signatures from a number of member databases into a single searchable resource, capitalising on their ... InterPro provides functional analysis of proteins by classifying them into families and predicting domains and important sites ... Four complementation groups have been identified, designated A to D. The gene for group C (FACC) has been cloned. Expression of ... Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR.. Hum. Mol. Genet. 2 35-8 1993 ...
Fanconi anemia group G protein is a protein that in humans is encoded by the FANCG gene. FANCG, involved in Fanconi anemia, ... "Entrez Gene: FANCG Fanconi anemia, complementation group G". DAndrea AD (2010). "Susceptibility pathways in Fanconis anemia ... "The fanconi anemia proteins FANCA and FANCG stabilize each other and promote the nuclear accumulation of the Fanconi anemia ... The FANCG gene is responsible for complementation group G. The clinical phenotype of all Fanconi anemia (FA) complementation ...
From NCBI Gene:. The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called ... This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding ... How do genes direct the production of proteins?. *More about How Genes Work ... Fanconi anemia complementation group I (FANCI): A disorder affecting all bone marrow elements and resulting in anemia, ...
Seventeen complementation groups have been identified for Fanconi anemia; details regarding the genes associated with these ... encodes two proteins, p16 and p14, both inhibitors of cellular senescence. The protein produced when the alternate reading ... Other Fanconi anemia genes, () and (), have also been identified as rare breast cancer susceptibility genes. (Refer to the PDQ ... The gene product of the gene has also been found to complex with Fanconi proteins, raising the possibility of connections ...
From NCBI Gene:. This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). ... This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi ... How do genes direct the production of proteins?. *More about How Genes Work ... Fanconi anemia complementation group L (FANCL): A disorder affecting all bone marrow elements and resulting in anemia, ...
FANCB; Fanconi anemia, complementation group B; Fanconi anemia group B protein; FAAP95; FAB; FLJ34064; Fanconi anemia- ... This gene encodes the protein for complementation group B. Alternative splicing results in two transcript variants encoding the ... Fanconi Anemia pathway, organism-specific biosystem; Fanconi anemia pathway, organism-specific biosystem; Fanconi anemia ... The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, ...
Fanconi Anemia Complementation Group M ELISA Kits * Fanconi Anemia Group A Protein ELISA Kits ... This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding ... FANCJ (show BRIP1 ELISA Kits) protein is important for the stability of FANCD2 (show FANCD2 ELISA Kits)/FANCI proteins and ... Fanconi Anemia Complementation Group I (FANCI) ELISA Kits. The Fanconi anemia complementation group (FANC) currently includes ...
Defects in the UBE2T gene have been associated with Fanconi anemia of complementation group T.. ⚠WARNING: This product can ... Cell proliferation-inducing gene 50 protein; E2 ubiquitin-conjugating enzyme T; HSPC150 protein similar to ubiquitin- ... UBE2T is involved in the covalent conjugation of ubiquitin to proteins regulates diverse cellular pathways and proteins. ... Ubiquitin is transferred to a target protein through a concerted action of a ubiquitin-activating enzyme (E1), a ubiquitin- ...
... with 15 complementation groups identified thus far. The genes encoding the groups A (FANCA), B (FANCB), C (FANCC), D1 (FANCD1/ ... The studies demonstrate that eight of the FA proteins (groups A, B, C, E, F, G, L, and M) form a core complex that functions as ... Each lane contains protein from 50,000 Lineage-depleted cells (Miltenyi Biotec, Auburn, CA). Signals were visualized by ... TNF-α induces leukemic clonal evolution ex vivo in Fanconi anemia group C murine stem cells. J. Clin. Invest. 117: 3283-3295. ...
Gene Summary:. *The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called ... This gene encodes the protein for complementation group G. [provided by RefSeq ... The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly ... The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder ...
This gene encodes the protein for complementation group B. Alternative splicing results in two transcript variants encoding the ... The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly ... The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder ... The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, ...
There are eleven complementation groups of FA (A, B, C, D1, D2, E, F, G, L, I, J), and nine FA genes have been cloned. The ... FANCD2 gene is identical to the BRCA2 gene. The nine cloned FA proteins cooperate in a novel cellular DNA damage response ... This complex monoubiquitinates the downstream FANCD2 protein, leading to its targeting to DNA repair foci containing FANCD1/ ... Fanconi Anemia (FA) is an autosomal recessive cancer susceptibility syndrome characterized by cellular hypersensitivity to DNA ...
Fanconi anemia complementation group D2 (FANCD2, Hs00276992_m1); DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16, Hs00374356_ ... In contrast, none of these genes responded to UV treatment in UACC903(+6) cells (Fig. 4a). It is known that FANCD2 protein ... Garcia-Higuera I, Taniguchi T, Ganesan S et al (2001) Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway ... Expression patterns of genes involved in proapoptosis (16 genes), antiapoptosis (3 genes), DNA damage repair (5 genes) and G2 ...
SNX5, a new member of the sorting nexin family, binds to the Fanconi anemia complementation group A protein. Otsuki, T., ... tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs ... SNX5, a new member of the sorting nexin family, binds to the Fanconi anemia complementation group A protein [1]. ... wikigene or wiki gene protein drug chemical gene disease author authorship ...
Kee, Y., and DAndrea, A. D. (2010). Expanded roles of the Fanconi anemia pathway in preserving genomic stability. Genes Dev. ... During G1 the excision repair cross-complementation group 1-xeroderma pigmentosum group F (ERCC1-XPF) endonuclease initiates ... the endogenous proteins are isolated together with the protein-DNA complex they are bound to. These studies revealed that NER ... When ICLs are encountered by the replication fork a Fanconi anemia (FA) protein complex comprised of FANCA, -B, -C, -E, -F, -G ...
  • Four complementation groups have been identified, designated A to D. The gene for group C (FACC) has been cloned. (ebi.ac.uk)
  • The function of the FACC gene is not known. (ebi.ac.uk)
  • Immunofluorescence and sub-cellular fractionation studies of human cell lines, and COS-7 cells transiently expressing human FACC, showed the protein to be located primarily in the cytoplasm. (ebi.ac.uk)
  • Yet, placement of a nuclear localisation signal at the N terminus of FACC directed the hybrid protein to the nuclei of transfected COS-7 cells. (ebi.ac.uk)
  • Expert-reviewed information summary about the genetics of skin cancer - basal cell carcinoma, squamous cell carcinoma, and melanoma - including information about specific gene mutations and related cancer syndromes. (oncolink.org)
  • Basal cell carcinoma (BCC) and squamous cell carcinoma (SCC), which are known collectively as nonmelanoma skin cancer, are two of the most common malignancies in the United States and are often caused by sun exposure, although several hereditary syndromes and genes are also associated with an increased risk of developing these cancers. (oncolink.org)
  • O6-methylguanine-DNA methyltransferase gene: epigenetic silencing and prognostic value in head and neck squamous cell carcinoma. (nih.gov)
  • Fanconi anemia (FA) is a rare, recessive (autosomal and X-linked) genetic disease that is characterized by the triad of congenital anomalies, bone marrow failure and a predisposition to cancer, most notably acute myeloid leukemia and squamous cell carcinoma. (cancertherapyadvisor.com)
  • Bone marrow failure (BMF) in children is usually acquired, but inherited causes of pancytopenia (hemoglobin [Hb] less than 10g/dL, platelets less than 50K/uL, absolute neutrophil count [ANC] less than 1500/uL), such as Fanconi anemia (FA), dyskeratosis congenita (DC), Shwachman-Diamond syndrome (SDS), and congenital amegakaryocytic thrombocytopenia (CAMT) must be excluded. (renalandurologynews.com)
  • Fanconi anemia (FA) is an autosomal recessive disease characterized by pancytopenia, congenital malformation and high predisposition to developing malignancies. (elsevier.com)
  • p>When browsing through different UniProt proteins, you can use the 'basket' to save them, so that you can back to find or analyse them later. (uniprot.org)
  • The single full-length transcript for human XRCC2 is 3,067 bp and there are no additional confirmed protein coding variants known (http://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000196584;r=7:152644779-152676165). (atlasgeneticsoncology.org)
  • Ohira, Seki, Nagase, Ishikawa, Nomura, Ohara: Characterization of a human homolog (BACH1) of the mouse Bach1 gene encoding a BTB-basic leucine zipper transcription factor and its mapping to chromosome 21q22.1. (antikoerper-online.de)
  • As outlined by NCBI (Gene), coding genes located most proximal to XRCC2 on 16p12.2, in the centromeric to telomeric direction, are GALNTL5 (polypeptide N-acetylgalactosaminyltranserase like 5), GALNT11 (polypeptide N-acetylgalactosaminyltransferase 11), KMT2C (lysine methyltransferase 2C), XRCC2, ACTR3B (ARP3 actin related protein 3 B homolog B), DPP6 (dipeptidyl peptidase like 6), and LOC107984014. (atlasgeneticsoncology.org)
  • Ubiquitin is transferred to a target protein through a concerted action of a ubiquitin-activating enzyme (E1), a ubiquitin-conjugating enzyme (E2), such as UBE2T, and a ubiquitin ligase (E3). (thermofisher.com)
  • Although the test is usually sent on a blood sample, testing of skin fibroblasts may be necessary to rule out somatic mosaicism in patients with a high clinical suspicion for Fanconi anemia. (renalandurologynews.com)
  • Finally, we have also started a more clinical project, using mass spectroscopy technology we have used to find FA binding proteins. (yale.edu)
  • Importantly, the identification and management of individuals with high-risk breast cancer predisposition gene mutations is now well accepted in clinical practice. (prolekare.cz)
  • Previous studies showed that yeast Hub1 interacts non‐covalently with the spliceosomal protein Snu66 (also termed SART1 in mammals), and this interaction is critical for alternative splicing of SRC1 , the only gene known to undergo this type of modification in budding yeast (Mishra et al , 2011 ). (embopress.org)
  • For this reason, Fanconi anemia should be considered in patients presenting with aplastic anemia, squamous cell carcinomas presenting at an unusually young age, excessive side effects from chemotherapy or radiation, a personal or family history of cancer predisposition, a family history of cytopenias, or cytopenias together with congenital anomalies. (renalandurologynews.com)
  • Our data demonstrate the utility of intra-family exome-sequencing approaches to uncover cancer predisposition genes, but highlight the major challenge of definitively validating candidates where the incidence of sporadic disease is high, germline mutations are not fully penetrant, and individual predisposition genes may only account for a tiny proportion of breast cancer families. (prolekare.cz)