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BRCA1 ProteinGenes, BRCA1BRCA2 ProteinGenes, BRCA2PhylogenyEvolution, MolecularMolecular Sequence DataGerm-Line MutationBreast NeoplasmsMutationOvarian NeoplasmsAmino Acid SequenceSequence AlignmentSequence Homology, Amino AcidConserved SequenceSyntenyJewsGenetic TestingHeterozygoteRad51 RecombinaseSpecies SpecificityGenetic Predisposition to DiseaseFounder EffectTranscription FactorsProtein Structure, TertiaryMultigene FamilyGenomeSequence Analysis, DNABase SequenceGenomicsGene DuplicationDNA RepairBreast Neoplasms, MaleDNA Mutational AnalysisDNA DamageNeoplasm ProteinsNeoplastic Syndromes, HereditaryZebrafishGenetic CounselingPhenotypeCaenorhabditis elegansProtein BindingComputational BiologyExonsModels, GeneticDatabases, GeneticExpressed Sequence TagsSequence Homology, Nucleic AcidGene Expression ProfilingTakifuguNuclear ProteinsChromosome MappingDNA-Binding ProteinsGenome, BacterialPlant ProteinsGenes, PlantUbiquitin-Protein LigasesGene DeletionGene Expression Regulation, DevelopmentalArabidopsisCloning, MolecularCaenorhabditis elegans ProteinsTumor Suppressor ProteinsSalpingectomyGene Expression Regulation, PlantGene OrderGenomic InstabilityVertebratesGenes, DuplicateMolecular Sequence AnnotationDNA, ComplementaryZebrafish ProteinsHomologous RecombinationDrosophila ProteinsBacterial ProteinsGenetic VariationPedigreePromoter Regions, GeneticProteinsGenome, ArchaealAmino Acid MotifsOryza sativaDrosophila melanogasterRNA, MessengerArabidopsis ProteinsCarrier ProteinsCell Line, TumorFallopian Tube NeoplasmsRNA InterferenceSaccharomyces cerevisiaeSequence DeletionFish ProteinsGenes, HelminthModels, MolecularSequence Analysis, ProteinTwo-Hybrid System TechniquesCell Cycle ProteinsBinding SitesIntronsMammals
BRCA2Tumor suppBRCTGenesHomologySusceptibilityProteinMutationsHeterodimerProteinsInteractionStabilizationChromosomeUbiquitinationVariantsNucleusBreast cancerHumanExpressionContributeSpeciesMutationBARD1VertebrateInteractsPromoterJsonAmino acidsCancersDouble-strandCheckpointDataMolecularComplexBreastImportantCellRINGTypeAspectRangeMultiplePotential
BRCA27
  • BRCA1 and BRCA2 are unrelated proteins, but both are normally expressed in the cells of breast and other tissue, where they help repair damaged DNA, or destroy cells if DNA cannot be repaired. (wikipedia.org)
  • If BRCA1 or BRCA2 itself is damaged by a BRCA mutation, damaged DNA is not repaired properly, and this increases the risk for breast cancer. (wikipedia.org)
  • Methods to test for the likelihood of a patient with mutations in BRCA1 and BRCA2 developing cancer were covered by patents owned or controlled by Myriad Genetics. (wikipedia.org)
  • citation needed] BRCA1 is unrelated to BRCA2, i.e. they are not homologs or paralogs. (wikipedia.org)
  • BRCA1 polypeptides, in particular, Lys-48-linked polyubiquitin chains are dispersed throughout the resting cell nucleus, but at the start of DNA replication, they gather in restrained groups that also contain BRCA2 and BARD1. (wikipedia.org)
  • Approximately 5-10% of all breast and ovarian cancers are thought to arise from a hereditary predisposition to the disease, 1 BRCA1 and BRCA2 being the most important susceptibility genes. (bmj.com)
  • Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells. (lu.se)
Tumor supp2
  • BRCA1 is a human tumor suppressor gene (also known as a caretaker gene) and is responsible for repairing DNA. (wikipedia.org)
  • Furthermore ETS-2 overexpression can inhibit expression of the tumor-suppressor gene BRCA1 the downregulation of which is clearly linked to familial breast cancer [7 8 Overexpression of one ETS protein in particular the epithelium-specific ETS factor ESE-1 is implicated in human mammary transformation. (ap26113.com)
BRCT3
  • The BRCA1 protein contains the following domains: Zinc finger, C3HC4 type (RING finger) BRCA1 C Terminus (BRCT) domain This protein also contains nuclear localization signals and nuclear export signal motifs. (wikipedia.org)
  • the Znf C3HC4- RING domain, the BRCA1 serine domain and two BRCT domains. (wikipedia.org)
  • 11 Both proteins possess an N-terminal RING finger motif and two BRCA1 C-terminal (BRCT) domains present in numerous proteins involved in DNA repair and cell cycle regulation. (bmj.com)
Genes4
  • 8- 10 In attempts to identify new breast and ovarian cancer susceptibility genes, much research has focused on BRCA1 associated proteins. (bmj.com)
  • Genes without known orthologs are listed at the bottom of the file. (mcw.edu)
  • Identification of high-penetrance breast cancer genes such as Brca1 has been accomplished by analysing familial cases. (mcw.edu)
  • The FANs are created from mammalian gene set libraries where mouse genes are converted to their human orthologs. (biomedcentral.com)
Homology1
  • Colocalisation of BARD1 with BRCA1 and RAD51 in response to DNA damage indicates a role in DNA repair, 19, 20 which is supported by the recent observation of BARD1 participation along with BRCA1 in homology directed repair of chromosome breaks. (bmj.com)
Susceptibility2
  • Breast cancer type 1 susceptibility protein is a protein that in humans is encoded by the BRCA1 (/ˌbrækəˈwʌn/) gene. (wikipedia.org)
  • The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. (utsouthwestern.edu)
Protein6
  • BRCA1 combines with other tumor suppressors, DNA damage sensors and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). (wikipedia.org)
  • The BRCA1 protein associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. (wikipedia.org)
  • These domains encode approximately 27% of BRCA1 protein. (wikipedia.org)
  • The BRCA1 RING motif is flanked by alpha helices formed by residues 8-22 and 81-96 of the BRCA1 protein. (wikipedia.org)
  • Human DNA topoisomerase II-binding protein 1 (TopBP1) and its orthologs play important roles in DNA replication and checkpoint control [ 1 ]. (biomedcentral.com)
  • 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. (lookformedical.com)
Mutations2
  • 11- 13 The finding of breast cancer associated mutations within the RING finger domain of BRCA1 , disrupting BRCA1/BARD1 interaction, 11, 14 and the occurrence of BARD1 missense mutations in breast cancer patients, 15- 17 implies participation of BARD1 in BRCA1 mediated tumour suppression. (bmj.com)
  • Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. (lu.se)
Heterodimer3
  • These four helices combine to form a heterodimerization interface and stabilize the BRCA1-BARD1 heterodimer complex. (wikipedia.org)
  • 11 The functionally important BARD1/BRCA1 heterodimer formation is mediated by the RING finger motifs and has also been shown to markedly increase the stability of both proteins. (bmj.com)
  • 21 Furthermore, interaction between the BARD1/BRCA1 heterodimer and cleavage stimulation factor subunit 1 (CSTF1, also called CstF-50) represses the polyadenylation machinery, presumably to prevent inappropriate mRNA processing at sites of DNA repair. (bmj.com)
Proteins6
  • The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. (wikipedia.org)
  • 6, 7 BRCA1 interacts with a variety of proteins and is involved in multiple cellular processes including DNA repair, transcription, and checkpoint control. (bmj.com)
  • BARD1, unlike BRCA1, also contains a centrally located sequence of three ankyrin repeats 11 that are found in many proteins involved in transcriptional regulation. (bmj.com)
  • The phenotype of Bard1 null mice was found to be remarkably similar to that of Brca1 nulls, further emphasising the functional relationship between these two proteins. (bmj.com)
  • These methods have been previously applied to detection of ortholog proteins, projection of functional pathways, and construction of phylogenetic trees. (biomedcentral.com)
  • On top of that to cell cycle progres sion molecules, quite a few cell cycle inhibitors, such as p16 and p27, and tumor suppressor proteins such as p53 and BRCA1 are also increased in levels during the AD brain. (fgfrinhibitors.com)
Interaction3
  • BARD1 was originally identified through its interaction with BRCA1, with which it has a closely related domain structure. (bmj.com)
  • 26 The suggested role in TP53 dependent apoptotic signalling 27 and interaction with the ankyrin repeats of proto-oncoprotein BCL3, thereby possibly modulating the activity of transcription factor NFKB, 28 represent BRCA1 independent functions of BARD1. (bmj.com)
  • 4) HSP90 plays a conserved chaperone-client interaction with SIRT1 orthologs. (silexon.tech)
Stabilization1
  • Furthermore, it is involved in the stabilization and activation of SIRT1 orthologs and mediates HSF1 activation in a mutp53-dependent manner. (silexon.tech)
Chromosome1
  • The human BRCA1 gene is located on the long (q) arm of chromosome 17 at region 2 band 1, from base pair 41,196,312 to base pair 41,277,500 (Build GRCh37/hg19) (map). (wikipedia.org)
Ubiquitination1
  • May contribute to ubiquitination and degradation of BRCA1 (PubMed:19887602). (nih.gov)
Variants1
  • Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. (lu.se)
Nucleus1
  • 25 BARD1 also regulates the subcellular localisation of BRCA1, both by translocating BRCA1 into the nucleus and by inhibiting its nuclear export. (bmj.com)
Breast cancer1
  • 2, 3 Genomic alterations in BRCA1 are found in 40-50% of families with a high incidence of breast cancer (six or more cases), and in a majority (75-80%) of the families that display both breast and ovarian cancers. (bmj.com)
Human1
Expression1
  • Brca1 expression is regulated by a bidirectional promoter that is shared by the Nbr1 gene in mouse. (nih.gov)
Contribute1
  • 22, 23 The significance of BARD1/BRCA1 collaboration has also been emphasised by studies of its ubiquitin ligase activity that might contribute to tumour suppression and other biological functions of BRCA1. (bmj.com)
Species3
  • The full BRCA1 ortholog set includes 306 species, while the Mustelidae set has only 6 species. (nih.gov)
  • Orthologs are common in other vertebrate species, whereas invertebrate genomes may encode a more distantly related gene. (wikipedia.org)
  • IMP is usually highly conserved across eukaryotes, with a single ortholog present in each species. (bassresearch.com)
Mutation2
  • Time to decide about risk-reducing mastectomy: a case series of BRCA1/2 gene mutation carriers. (medscape.com)
  • We have very limited knowledge of the risk associated in carrying a specific BRCA1 mutation. (nih.gov)
BARD13
  • These four helices combine to form a heterodimerization interface and stabilize the BRCA1-BARD1 heterodimer complex. (wikipedia.org)
  • 15. BRCA1-associated protein 1 interferes with BRCA1/BARD1 RING heterodimer activity. (nih.gov)
  • 17. Down-regulation of BRCA1-BARD1 ubiquitin ligase by CDK2. (nih.gov)
Vertebrate1
  • The vertebrate orthologs includes a specialized set for fish. (nih.gov)
Interacts1
  • The BRCA1 protein associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. (wikipedia.org)
Promoter2
  • For example, the detection of the promoter methylation of the tumor suppressor gene BRCA1 , which is frequent in BC and is associated with a decrease of BRCA1 expression, can help to predict the response to conventional chemotherapies in triple negative BC patients [ 9 ]. (biomedcentral.com)
  • Recruits BRCA1 and POU2F1 to the ESR1 promoter. (nih.gov)
Json2
  • You can retrieve metadata for gene orthologs in JSON Format, or you can download a compressed (zip) archive containing both metadata and sequences (Figure 1). (nih.gov)
  • Command-lines that use a gene symbol (BRCA1) to retrieve mammalian ortholog metadata (top, JSON metadata shown in part in the image) and sequences (bottom). (nih.gov)
Amino acids1
  • There are six known isoforms of BRCA1, with isoforms 1 and 2 comprising 1863 amino acids each. (wikipedia.org)
Cancers1
  • BRCA1-associated protein-1 (BAP1), a deubiquitinating enzyme of unknown cellular function, is mutated in breast and lung cancers. (nih.gov)
Double-strand1
  • The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). (nih.gov)
Checkpoint1
  • By restoring BRCA1 to BRCA1 -minus cells, we were able to demonstrate that BRCA1 is essential for maintaining the DNA damage checkpoint preceding the G2-to-M transition. (nih.gov)
Data3
  • BRCA1 orthologs have been identified in most vertebrates for which complete genome data are available. (wikipedia.org)
  • You can now get gene ortholog data using the NCBI Datasets command-line tool using a gene ID, gene symbol, or RefSeq nucleotide or protein accession. (nih.gov)
  • See our help documentation , for more information on using the datasets command-line tool to access ortholog data. (nih.gov)
Molecular1
  • Molecular cloning of the gene showed that HER2, Neu, and ErbB-2 are all encoded by the same orthologs. (iiab.me)
Complex4
  • BRCA1 combines with other tumor suppressors, DNA damage sensors and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). (wikipedia.org)
  • Predicted to be part of BRCA1-A complex. (nih.gov)
  • RAP80 protein is important for genomic stability and is required for stabilizing BRCA1-A complex at DNA damage sites in vivo. (nih.gov)
  • Autologous K63 deubiquitylation within the BRCA1-A complex licenses DNA damage recognition. (nih.gov)
Breast1
  • Breast cancer type 1 susceptibility protein is a protein that in humans is encoded by the BRCA1 (/ˌbrækəˈwʌn/) gene. (wikipedia.org)
Important1
  • We recently found that BRCA1 plays an important role in the regulation of the cell cycle. (nih.gov)
Cell1
  • BRCA1 appears to control this activity by directly interacting with the cell cycle regulator. (nih.gov)
RING1
Type1
  • Surprisingly, BAP1-mediated growth suppression is independent of wild-type BRCA1. (nih.gov)
Aspect1
  • Work from numerous labs suggests that BRCA1 controls some aspect of DNA repair. (nih.gov)
Range1
  • here, the user can define the taxonomic range for the requested ortholog set. (nih.gov)
Multiple1
  • can retrive multiple ortholog sets based on a list of symbols, accessions or gene-ids. (nih.gov)
Potential1
  • Spectrum of BRCA1 interacting helicase 1 aberrations and potential prognostic and therapeutic implication: a pan cancer analysis. (nih.gov)