| Name | abraxas 1, BRCA1 A complex subunit |
| Description | This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ABRAXAS1 (also known as CCDC98) is a pivotal adaptor protein in the BRCA1‐A complex that orchestrates the cellular response to DNA double‐strand breaks. By directly interacting with the BRCA1 BRCT domains through a phosphorylated serine‐containing motif, ABRAXAS1 mediates the recruitment and stable retention of BRCA1 at sites of DNA damage, thereby facilitating proper checkpoint activation and repair via homologous recombination."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": " Within the complex, its association with ubiquitin-binding proteins such as RAP80 and deubiquitinating enzymes like BRCC36 enables the recognition and processing of Lys63-linked ubiquitin chains on damaged chromatin. This coordinated regulation of chromatin ubiquitination is essential for maintaining genomic stability and ensuring an efficient DNA damage response. Furthermore, loss-of-function mutations in ABRAXAS1 that impair nuclear localization and disrupt BRCA1-dependent repair processes have been identified in familial breast cancer cases, thereby underscoring its tumor suppressor role. Collectively, these findings highlight ABRAXAS1 as a critical mediator that links ubiquitin signaling to BRCA1-driven DNA repair mechanisms.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Szilvia Solyom, Bernadette Aressy, Katri Pylkäs, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Transl Med (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/scitranslmed.3003223"}], "href": "https://doi.org/10.1126/scitranslmed.3003223"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22357538"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22357538"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Andy Castillo, Atanu Paul, Baohua Sun, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The BRCA1-interacting protein Abraxas is required for genomic stability and tumor suppression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2014.06.050"}], "href": "https://doi.org/10.1016/j.celrep.2014.06.050"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25066119"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25066119"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Qian Wu, Atanu Paul, Dan Su, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structure of BRCA1-BRCT/Abraxas Complex Reveals Phosphorylation-Dependent BRCT Dimerization at DNA Damage Sites."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2015.12.017"}], "href": "https://doi.org/10.1016/j.molcel.2015.12.017"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26778126"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26778126"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Qian Wu, Harry Jubb, Tom L Blundell "}, {"type": "b", "children": [{"type": "t", "text": "Phosphopeptide interactions with BRCA1 BRCT domains: More than just a motif."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Prog Biophys Mol Biol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.pbiomolbio.2015.02.003"}], "href": "https://doi.org/10.1016/j.pbiomolbio.2015.02.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25701377"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25701377"}]}]}]}
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| NCBI Gene ID | 84142 |
| API | |
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| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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ABRAXAS1 has 1,252 functional associations with biological entities spanning 5 categories (disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 39 datasets.
Click the + buttons to view associations for ABRAXAS1 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of ABRAXAS1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| CCLE Cell Line Proteomics | Cell lines associated with ABRAXAS1 protein from the CCLE Cell Line Proteomics dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of ABRAXAS1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with ABRAXAS1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of ABRAXAS1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing ABRAXAS1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with ABRAXAS1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of ABRAXAS1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by ABRAXAS1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with ABRAXAS1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with ABRAXAS1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving ABRAXAS1 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving ABRAXAS1 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing ABRAXAS1 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing ABRAXAS1 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by ABRAXAS1 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by ABRAXAS1 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of ABRAXAS1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of ABRAXAS1 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with ABRAXAS1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of ABRAXAS1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of ABRAXAS1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| KEGG Pathways 2026 | pathways involving ABRAXAS1 protein from the KEGG Pathways 2026 dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by ABRAXAS1 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of ABRAXAS1 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving ABRAXAS1 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving ABRAXAS1 protein from the Wikipathways PFOCR 2024 dataset. | |
| Reactome Pathways 2024 | pathways involving ABRAXAS1 protein from the Reactome Pathways 2024 dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of ABRAXAS1 gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of ABRAXAS1 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of ABRAXAS1 gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of ABRAXAS1 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of ABRAXAS1 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of ABRAXAS1 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of ABRAXAS1 gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of ABRAXAS1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of ABRAXAS1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with ABRAXAS1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2024 | pathways involving ABRAXAS1 protein from the WikiPathways Pathways 2024 dataset. | |
