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    ABRAXAS1 abraxas 1, BRCA1 A complex subunit [ Homo sapiens (human) ]

    Gene ID: 84142, updated on 10-Dec-2024

    Summary

    Official Symbol
    ABRAXAS1provided by HGNC
    Official Full Name
    abraxas 1, BRCA1 A complex subunitprovided by HGNC
    Primary source
    HGNC:HGNC:25829
    See related
    Ensembl:ENSG00000163322 MIM:611143; AllianceGenome:HGNC:25829
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ABRA1; CCDC98; FAM175A
    Summary
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 9.6), testis (RPKM 8.6) and 25 other tissues See more
    Orthologs
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    Genomic context

    See ABRAXAS1 in Genome Data Viewer
    Location:
    4q21.23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (83459517..83485100, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (86789585..86815160, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (84380670..84406253, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene C18orf21 pseudogene 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:84309555-84310754 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:84311240-84312057 Neighboring gene helicase, POLQ like Neighboring gene Sharpr-MPRA regulatory region 5990 Neighboring gene mitochondrial ribosomal protein S18C Neighboring gene solute carrier family 25 member 14 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15542 Neighboring gene ribosomal protein L30 pseudogene 5 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:84469077-84470276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15543 Neighboring gene glycerol-3-phosphate acyltransferase 3 Neighboring gene Sharpr-MPRA regulatory region 7334

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (60 hits/1278 screens)

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2023-07-18)

    ClinGen Genome Curation Page
    Haploinsufficency

    No evidence available (Last evaluated 2023-07-18)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ11520, FLJ12642, FLJ13614

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of BRCA1-A complex PubMed 
    part_of BRCA1-A complex PubMed 
    located_in nuclear body  
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus PubMed 
    located_in nucleus PubMed 

    General protein information

    Preferred Names
    BRCA1-A complex subunit Abraxas 1
    Names
    abraxas protein
    coiled-coil domain containing 98
    family with sequence similarity 175 member A

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_051599.2 RefSeqGene

      Range
      5000..30583
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001345962.2 → NP_001332891.1  BRCA1-A complex subunit Abraxas 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC096768
      UniProtKB/TrEMBL
      D6REL5
    2. NM_139076.3 → NP_620775.2  BRCA1-A complex subunit Abraxas 1 isoform 1

      See identical proteins and their annotated locations for NP_620775.2

      Status: REVIEWED

      Source sequence(s)
      AC096768
      Consensus CDS
      CCDS3605.2
      UniProtKB/Swiss-Prot
      A5JJ07, Q6UWZ7, Q9H8I1, Q9H9N4
      UniProtKB/TrEMBL
      D6REL5
      Related
      ENSP00000369857.3, ENST00000321945.12

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      83459517..83485100 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001741334.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      86789585..86815160 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008487045.1 RNA Sequence

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