ABRAXAS1
BRCA1-A complex subunit Abraxas 1
Also known as: ABRA1, ABRAXAS, ABRX1_HUMAN, CCDC98, FAM175A, FLJ13614
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6UWZ7
- Gene
- ABRAXAS1
- Ensembl
- ENSG00000163322
- Chromosome
- 4
- Canonical length
- 409 aa
- Protein class
- Disease related genes, Predicted intracellular proteins
- Subcellular location
- Nuclear bodies
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
409 residues, UniProt reviewed canonical sequence.
>Q6UWZ7|ABRAXAS1
1 MEGESTSAVL SGFVLGALAF QHLNTDSDTE GFLLGEVKGE AKNSITDSQM DDVEVVYTID
61 IQKYIPCYQL FSFYNSSGEV NEQALKKILS NVKKNVVGWY KFRRHSDQIM TFRERLLHKN
121 LQEHFSNQDL VFLLLTPSII TESCSTHRLE HSLYKPQKGL FHRVPLVVAN LGMSEQLGYK
181 TVSGSCMSTG FSRAVQTHSS KFFEEDGSLK EVHKINEMYA SLQEELKSIC KKVEDSEQAV
241 DKLVKDVNRL KREIEKRRGA QIQAAREKNI QKDPQENIFL CQALRTFFPN SEFLHSCVMS
301 LKNRHVSKSS CNYNHHLDVV DNLTLMVEHT DIPEASPAST PQIIKHKALD LDDRWQFKRS
361 RLLDTQDKRS KADTGSSNQD KASKMSSPET DEEIEKMKGF GEYSRSPTFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ABRAXAS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.47
- Highest tissue expression
- 10 nTPM
Expression across tissuesHPA
Tissue
- ovary: 10 nTPM
- testis: 10 nTPM
- lymph node: 7.4 nTPM
- bone marrow: 7.2 nTPM
- thyroid gland: 6.9 nTPM
- endometrium: 6 nTPM
Single-cell type
- early primary spermatocytes: 149 nCPM
- differentiating spermatogonia: 113 nCPM
- early spermatids: 86 nCPM
- choroid plexus epithelial cells: 80 nCPM
- late primary spermatocytes: 80 nCPM
- late spermatids: 72 nCPM
Immune cell
- naive CD4 T-cell: 5.3 nTPM
- NK-cell: 4.7 nTPM
- naive CD8 T-cell: 4.2 nTPM
- basophil: 3.5 nTPM
- memory CD4 T-cell: 3.4 nTPM
- T-reg: 3.2 nTPM
Brain region
- choroid plexus: 44 nTPM
- cerebellum: 34 nTPM
- white matter: 29 nTPM
- cerebral cortex: 25 nTPM
- basal ganglia: 25 nTPM
- midbrain: 25 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ABRAXAS1.
Disease | AllUniProt
Conditions ABRAXAS1 is implicated in, by any mechanism.
- Breast cancer (BC) MIM:114480
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.01
- gnomAD pLI
- 0
- DepMap mean gene effect
- -0.3
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- attachment of spindle microtubules to kinetochore
- chromatin organization
- double-strand break repair
- mitotic G2 DNA damage checkpoint signaling
- mitotic G2/M transition checkpoint
- mitotic spindle assembly
- positive regulation of DNA repair
- regulation of DNA repair
- response to ionizing radiation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- FAM175 family
- MPN domain
- BRCA1-A complex subunit Abraxas 1 MPN domain
- BRISC complex, Abraxas 1 subunit
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ABRAXAS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ABRAXAS1 as an antibody target. Whether an autoantibody or antibody against ABRAXAS1 could matter depends on whether native ABRAXAS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ABRAXAS1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ABRAXAS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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