ABRAXAS1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
ABRAXAS1
Official Name
abraxas 1, BRCA1 A complex subunit [Source:HGNC Symbol;Acc:HGNC:25829]
Ensembl ID
ENSG00000163322
Bio databases IDs NCBI: 84142 Ensembl: ENSG00000163322
Aliases abraxas 1, BRCA1 A complex subunit, Abraxas protein
Synonyms 3830405G04RIK, 5630400M01RIK, ABRA1, abraxas 1, BRCA1 A complex subunit, AV118690, BRCA1 A complex subunit, CCDC98, FAM175A, FLJ13614, RGD1305287
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ABRAXAS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • protein binding
  • Abraxas-like_domain

Pathways

Biological processes and signaling networks where the ABRAXAS1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • epithelial neoplasia
  • cancer
  • epithelial cancer
  • lymphomagenesis
  • hematologic cancer
  • lymphoid cancer
  • hematological neoplasia
  • lymphatic neoplasia
  • prostate cancer
regulated by
role in cell
  • G2/M phase
  • abnormal morphology
  • G2/M phase transition
  • sensitivity
  • breakage

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nucleoplasm
  • nuclear bodies

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ABRAXAS1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • positive regulation of DNA repair
  • mitotic cell cycle G2/M transition DNA damage checkpoint
  • regulation of DNA repair
  • attachment of spindle microtubules to kinetochore
  • chromatin organization
  • spindle assembly involved in mitosis
  • double-strand break repair
  • protein K63-linked deubiquitination
  • response to ionizing radiation

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • nuclear body
  • BRCA1-A complex
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • polyubiquitin binding
  • microtubule binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.