Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ABRAXAS1 Gene

Aliases for ABRAXAS1 Gene

  • Abraxas 1, BRCA1 A Complex Subunit 2 3 5
  • Family With Sequence Similarity 175 Member A 2 3
  • Coiled-Coil Domain Containing 98 2 3
  • Abraxas Protein 2 3
  • FAM175A 3 4
  • CCDC98 3 4
  • ABRA1 3 4
  • Family With Sequence Similarity 175, Member A 2
  • Coiled-Coil Domain-Containing Protein 98 4
  • BRCA1-A Complex Subunit Abraxas 1 3
  • BRCA1-A Complex Subunit Abraxas 3
  • Protein FAM175A 4

External Ids for ABRAXAS1 Gene

Previous HGNC Symbols for ABRAXAS1 Gene

  • CCDC98
  • FAM175A

Summaries for ABRAXAS1 Gene

Entrez Gene Summary for ABRAXAS1 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]

GeneCards Summary for ABRAXAS1 Gene

ABRAXAS1 (Abraxas 1, BRCA1 A Complex Subunit) is a Protein Coding gene. Diseases associated with ABRAXAS1 include Breast Cancer. Among its related pathways are DNA Double Strand Break Response and DNA Double-Strand Break Repair. An important paralog of this gene is ABRAXAS2.

UniProtKB/Swiss-Prot for ABRAXAS1 Gene

  • Involved in DNA damage response and double-strand break (DSB) repair. Component of the BRCA1-A complex, acting as a central scaffold protein that assembles the various components of the complex and mediates the recruitment of BRCA1. The BRCA1-A complex specifically recognizes Lys-63-linked ubiquitinated histones H2A and H2AX at DNA lesion sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at DSBs. This complex also possesses deubiquitinase activity that specifically removes Lys-63-linked ubiquitin on histones H2A and H2AX.

Additional gene information for ABRAXAS1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABRAXAS1 Gene

Genomics for ABRAXAS1 Gene

Regulatory Elements for ABRAXAS1 Gene

Enhancers for ABRAXAS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H083254 1.5 Ensembl ENCODE dbSUPER 20.3 +265.3 265262 6 PKNOX1 FOXA2 FEZF1 ZNF143 ATF7 FOS RUNX3 TSHZ1 REST PPARG HNRNPD HNRNPDL HELQ SEC31A ABRAXAS1 LOC391674 THAP9-AS1 PLAC8 PIR52005 GC04P083274
GH04H083454 1.2 ENCODE 19.2 +67.2 67204 3 PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 HELQ ABRAXAS1 MRPS18C SEC31A HPSE GPAT3 SLC25A14P1
GH04H083033 1.2 ENCODE 19.1 +488.1 488061 2 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 HNRNPD HELQ THAP9-AS1 ABRAXAS1 HNRNPDL SEC31A COPS4 GC04P083035
GH04H083547 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12 -25.2 -25169 1 PKNOX1 ATF1 FOXA2 ARNT SIN3A FEZF1 GLIS2 ATF7 FOS RUNX3 ABRAXAS1 HPSE GPAT3 MRPS18C PLAC8 COQ2 HELQ ENSG00000201633 GC04M083639
GH04H083551 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12 -29.5 -29454 1 PKNOX1 FEZF1 ZNF766 FOS CEBPB ZEB2 ZNF592 HMBOX1 NR2C1 HNF4A ABRAXAS1 HPSE MRPS18C PLAC8 COQ2 HELQ GPAT3 ENSG00000201633 GC04M083639
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABRAXAS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABRAXAS1 Gene

Chromosome:
4
Start:
83,459,517 bp from pter
End:
83,523,348 bp from pter
Size:
63,832 bases
Orientation:
Minus strand

Genomic View for ABRAXAS1 Gene

Genes around ABRAXAS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABRAXAS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABRAXAS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABRAXAS1 Gene

Proteins for ABRAXAS1 Gene

  • Protein details for ABRAXAS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UWZ7-ABRX1_HUMAN
    Recommended name:
    BRCA1-A complex subunit Abraxas 1
    Protein Accession:
    Q6UWZ7
    Secondary Accessions:
    • A5JJ07
    • Q9H8I1
    • Q9H9N4

    Protein attributes for ABRAXAS1 Gene

    Size:
    409 amino acids
    Molecular mass:
    46663 Da
    Quaternary structure:
    • Component of the ARISC complex, at least composed of UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1 (PubMed:24075985). Component of the BRCA1-A complex, at least composed of BRCA1, BARD1, UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1. In the complex, interacts directly with UIMC1/RAP80, BRCC3/BRCC36 and BABAM2. Interacts directly (when phosphorylated at Ser-406) with BRCA1. Homodimer. The homodimer interacts directly (when phosphorylated at Ser-404 and Ser-406) with two BRCA1 chains, giving rise to a heterotetramer. Binds polyubiquitin.
    SequenceCaution:
    • Sequence=AAH39573.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ABRAXAS1 Gene

    Alternative splice isoforms for ABRAXAS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABRAXAS1 Gene

Post-translational modifications for ABRAXAS1 Gene

  • Phosphorylation of Ser-406 of the pSXXF motif by ATM or ATR constitutes a specific recognition motif for the BRCT domain of BRCA1 (PubMed:17643121, PubMed:17525340, PubMed:17643122). Ionizing radiation promotes rapid phosphorylation at Ser-404 and Ser-406 by ATM; this promotes recruitment of BRCA1 to sites of DNA damage (PubMed:26778126).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ABRAXAS1 Gene

Domains & Families for ABRAXAS1 Gene

Gene Families for ABRAXAS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ABRAXAS1 Gene

Suggested Antigen Peptide Sequences for ABRAXAS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UWZ7

UniProtKB/Swiss-Prot:

ABRX1_HUMAN :
  • The MPN-like region is similar to the MPN (JAB/Mov34) domain. Its presence reveals similarities between the structure of the 19S proteasome and the BRCA1-A complexes.
  • Belongs to the FAM175 family. Abraxas subfamily.
Domain:
  • The MPN-like region is similar to the MPN (JAB/Mov34) domain. Its presence reveals similarities between the structure of the 19S proteasome and the BRCA1-A complexes.
Family:
  • Belongs to the FAM175 family. Abraxas subfamily.
genes like me logo Genes that share domains with ABRAXAS1: view

Function for ABRAXAS1 Gene

Molecular function for ABRAXAS1 Gene

UniProtKB/Swiss-Prot Function:
Involved in DNA damage response and double-strand break (DSB) repair. Component of the BRCA1-A complex, acting as a central scaffold protein that assembles the various components of the complex and mediates the recruitment of BRCA1. The BRCA1-A complex specifically recognizes Lys-63-linked ubiquitinated histones H2A and H2AX at DNA lesion sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at DSBs. This complex also possesses deubiquitinase activity that specifically removes Lys-63-linked ubiquitin on histones H2A and H2AX.

Gene Ontology (GO) - Molecular Function for ABRAXAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17525340
GO:0031593 polyubiquitin binding IDA 19261749
genes like me logo Genes that share ontologies with ABRAXAS1: view
genes like me logo Genes that share phenotypes with ABRAXAS1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ABRAXAS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABRAXAS1 Gene

Localization for ABRAXAS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABRAXAS1 Gene

Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs). {ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABRAXAS1 gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABRAXAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 17525340
GO:0005654 nucleoplasm TAS --
GO:0016604 nuclear body IDA --
GO:0070531 BRCA1-A complex IDA 17525340
genes like me logo Genes that share ontologies with ABRAXAS1: view

Pathways & Interactions for ABRAXAS1 Gene

genes like me logo Genes that share pathways with ABRAXAS1: view

Pathways by source for ABRAXAS1 Gene

SIGNOR curated interactions for ABRAXAS1 Gene

Activates:

Gene Ontology (GO) - Biological Process for ABRAXAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006302 double-strand break repair IMP 17525340
GO:0006303 double-strand break repair via nonhomologous end joining TAS --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0010212 response to ionizing radiation IMP 17525340
genes like me logo Genes that share ontologies with ABRAXAS1: view

Drugs & Compounds for ABRAXAS1 Gene

No Compound Related Data Available

Transcripts for ABRAXAS1 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ABRAXAS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ABRAXAS1 Gene

No ASD Table

Relevant External Links for ABRAXAS1 Gene

GeneLoc Exon Structure for
ABRAXAS1
ECgene alternative splicing isoforms for
ABRAXAS1

Expression for ABRAXAS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABRAXAS1 Gene:

ABRAXAS1
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABRAXAS1 Gene

Orthologs for ABRAXAS1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ABRAXAS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC98 33 34
  • 99.92 (n)
dog
(Canis familiaris)
Mammalia FAM175A 33 34
  • 88.02 (n)
cow
(Bos Taurus)
Mammalia FAM175A 33 34
  • 86.15 (n)
mouse
(Mus musculus)
Mammalia Fam175a 33 34
  • 77.64 (n)
Abraxas1 16
rat
(Rattus norvegicus)
Mammalia Fam175a 33
  • 77.28 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 74 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
-- 34
  • 42 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia FAM175A 34
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM175A 33 34
  • 68.82 (n)
lizard
(Anolis carolinensis)
Reptilia FAM175A 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam175a 33
  • 61.54 (n)
Str.1487 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.11518 33
zebrafish
(Danio rerio)
Actinopterygii fam175a 33 34
  • 53.12 (n)
Species where no ortholog for ABRAXAS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ABRAXAS1 Gene

ENSEMBL:
Gene Tree for ABRAXAS1 (if available)
TreeFam:
Gene Tree for ABRAXAS1 (if available)

Paralogs for ABRAXAS1 Gene

Paralogs for ABRAXAS1 Gene

Pseudogenes.org Pseudogenes for ABRAXAS1 Gene

genes like me logo Genes that share paralogs with ABRAXAS1: view

Variants for ABRAXAS1 Gene

Sequence variations from dbSNP and Humsavar for ABRAXAS1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs201627097 Breast cancer (BC) [MIM:114480] 83,462,617(+) ACAAC(C/T)GAGAT reference, missense
rs587780261 Pathogenic 83,462,666(-) TCATT(-/T)AAGCA reference, frameshift-variant
rs587780262 Pathogenic 83,462,592(-) AAACG(-/G)ATCTA reference, frameshift-variant
rs137876115 Likely pathogenic 83,470,315(+) CTCCT(A/C/G/T)CAAGT nc-transcript-variant, reference, missense
rs115192589 Likely benign 83,470,504(+) ATTTA(A/G)AAAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABRAXAS1 Gene

Variant ID Type Subtype PubMed ID
esv3601196 CNV loss 21293372
esv3601197 CNV loss 21293372
esv3893971 CNV gain 25118596
nsv829994 CNV loss 17160897

Variation tolerance for ABRAXAS1 Gene

Residual Variation Intolerance Score: 46.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.98; 84.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABRAXAS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABRAXAS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABRAXAS1 Gene

Disorders for ABRAXAS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABRAXAS1 Gene - From: Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
breast cancer
  • breast cancer, invasive ductal
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ABRX1_HUMAN
  • Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269 PubMed:22357538, ECO:0000269 PubMed:25105795}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for ABRAXAS1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABRAXAS1
genes like me logo Genes that share disorders with ABRAXAS1: view

No data available for Genatlas for ABRAXAS1 Gene

Publications for ABRAXAS1 Gene

  1. Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response. (PMID: 17525340) Wang B … Elledge SJ (Science (New York, N.Y.) 2007) 2 3 4 60
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4 60
  3. Structure of BRCA1-BRCT/Abraxas Complex Reveals Phosphorylation-Dependent BRCT Dimerization at DNA Damage Sites. (PMID: 26778126) Wu Q … Blundell TL (Molecular cell 2016) 3 4 60
  4. Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions. (PMID: 22357538) Solyom S … Winqvist R (Science translational medicine 2012) 3 4 60
  5. NBA1, a new player in the Brca1 A complex, is required for DNA damage resistance and checkpoint control. (PMID: 19261749) Wang B … Elledge SJ (Genes & development 2009) 3 4 60

Products for ABRAXAS1 Gene

Sources for ABRAXAS1 Gene

Content
Loading form....