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Human
BRCA1 - BRCA1 DNA Repair Associated
Alias:
BRCAI
|
BRCC1
|
BROVCA1
|
FANCS
|
IRIS
|
PNCA4
|
PPP1R53
|
PSCP
|
RNF53
Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein 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). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020]
Basic Information
Gene Type | NCBI | Transcripts | Exons | Length | MW (kDa) | Mutations | Related Diseases | Related Mouse Models | Reference |
|---|---|---|---|---|---|---|---|---|---|
Protein-coding | 368 | 31 | 126033 bp | 207.72 | 14736 Pathogenic: 3724 Likely Pathogenic: 232 Likely Benign: 2698 Benign: 818 Uncertain: 7264 | 0 | 31 | 108 |
BRCA1 Genetics information (-)
GRCh38
Sequence Homology
Compare the differences in orthologous genes between rat, mouse, and human regarding the following aspects:
Gene Length: Chromosomal location and the number of base pairs within the gene.
Transcript Length: MANE (Matched Annotation from NCBI and EMBL-EBI) transcript ID and its sequence length.
Protein Length: MANE protein ID and its length information.
Exon count: The count of exons in the MANE transcript of the gene.
CDS homology: Comparison of CDS splice sequence similarity encoding MANE proteins, with human, mouse, or rat sequence as the baseline (100% reference).
Protein homology: Comparison of amino acid sequence similarity of MANE proteins, using human, mouse, or rat sequence as the baseline (100% reference).
Data Sources: NCBI, ALLIANCE
Related Diseases and Mutations
Current Gene-Associated Diseases and their Mutations:
Anatomical category: Specific site or related tissue/organ where the disease occurs.
Score: Indicates the strength of the association between the gene and the disease. Higher scores imply stronger associations.
Count: Number of mutations related to the gene and the disease. The number in parentheses represents the total data associated with the same Clinvar ID. Click the number to view mutation details.
Data Source: Clinvar
Transcripts & Proteins
Overview of Current Gene Transcripts, Switchable Between Table and Graph Views:
Table: Provides a summary of transcript sequence length, exon count, CDS (Coding Sequence) length, associated protein sequence ID, protein sequence length, and other relevant information.
Tile: Offers a visual representation of introns, exons, UTRs (Untranslated Regions), and CDS (Coding Sequence).
MANE Select: The primary 1:1 matched representative transcript for human genes.
MANE Plus Clinical: Additional transcripts required for clinical interpretation.
RefSeq Select: The best representative transcript for non-human species (e.g., Mouse) or other RefSeq genes.
Data Source: NCBI
Gene Expression
Current RNA expression levels of the gene across various tissues and cell types, allowing users to sort by tissue type, specific expression values, or alphabetical order.
Data Source: NCBI
Interactions
Interacting Genes of the Current Gene, Including:
Acting, Target: Distinguishes the upstream interacting protein from the downstream target protein in the interaction chain.
Regulation: Four types of regulation.
[
] Up-Regulates.
] Up-Regulates.[
] Down-Regulates.
] Down-Regulates.[
] Form Complex.
] Form Complex.[
] Unknown.
] Unknown.Solid lines indicate direct interactions, dashed lines represent indirect ones.
Acting, Target: Distinguishes the upstream interacting protein from the downstream target protein in the interaction chain.
Details: Indicates changes in protein quantity or activity post-interaction.
Mechanism: Elucidates functional transitions resulting from the interaction.
Residues: Specifies the particular amino acid residues involved in the interaction, along with the studied species, tissue, or cell.
References: Summarizes and displays relevant interaction studies, their publications, and overviews, with indications of the studied species, tissue, or cell.
Score: Quantifies the tightness of the interaction through a scoring system. Higher scores imply stronger associations.
Data Source: Signor, PubMed
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.
Data Source: UniProt, PubMed