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    FAM175A family with sequence similarity 175, member A [ Homo sapiens (human) ]

    Gene ID: 84142, updated on 14-May-2013
    Official Symbol
    FAM175Aprovided by HGNC
    Official Full Name
    family with sequence similarity 175, member Aprovided by HGNC
    Primary source
    HGNC:25829
    Locus tag
    UNQ496/PRO1013
    See related
    Ensembl:ENSG00000163322; HPRD:08584; MIM:611143; Vega:OTTHUMG00000130429
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ABRA1; CCDC98
    Location :
    4q21.23
    Sequence :
    Chromosome: 4; NC_000004.11 (84382092..84406290, complement)
    See FAM175A in Epigenomics, MapViewer

    Chromosome 4 - NC_000004.11Genomic Context describing neighboring genes Neighboring gene chromosome 18 open reading frame 21 pseudogene Neighboring gene helicase, POLQ-like Neighboring gene mitochondrial ribosomal protein S18C Neighboring gene solute carrier family 25 (mitochondrial carrier, brain), member 14 pseudogene 1 Neighboring gene ribosomal protein L30 pseudogene 5 Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 9

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. RNF4-dependent hybrid SUMO-ubiquitin chains are signals for RAP80 and thereby mediate the recruitment of BRCA1 to sites of DNA damage. Guzzo CM, et al. Sci Signal, 2012 Dec 4. PMID 23211528.
    2. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. Povlsen LK, et al. Nat Cell Biol, 2012 Oct. PMID 23000965.
    3. Charting the landscape of tandem BRCT domain-mediated protein interactions. Woods NT, et al. Sci Signal, 2012 Sep 18. PMID 22990118.
    4. Loss of BRCA1-A complex function in RAP80 null tumor cells. Bian C, et al. PLoS One, 2012. PMID 22792303.
    5. Rap80 protein recruitment to DNA double-strand breaks requires binding to both small ubiquitin-like modifier (SUMO) and ubiquitin conjugates. Hu X, et al. J Biol Chem, 2012 Jul 20. PMID 22689573.

    See all (36) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. The recurrent Abraxas c.1082G>A mutation connects to breast cancer predisposition.
      Title: Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions.
    2. low expression correlates with better response to chemotherapy and longer survival in patients with advanced non small-cell lung cancer
      Title: Tubulin, BRCA1, ERCC1, Abraxas, RAP80 mRNA expression, p53/p21 immunohistochemistry and clinical outcome in patients with advanced non small-cell lung cancer receiving first-line platinum-gemcitabine chemotherapy.
    3. it seems unlikely that moderate to highly penetrant alleles of either RAP80 or Abraxas, confer a significantly high relative risk of breast cancer.
      Title: Analysis of the genes coding for the BRCA1-interacting proteins, RAP80 and Abraxas (CCDC98), in high-risk, non-BRCA1/2, multiethnic breast cancer cases.
    4. examined RAP80 and Abraxas expression and their effect on treatment outcome in non-small-cell lung cancer
      Title: Customized treatment in non-small-cell lung cancer based on EGFR mutations and BRCA1 mRNA expression.
    5. Mutational analysis in 168 multiple-case breast/ovarian cancer families, negative for mutations in BRCA1 or BRCA2, suggests that CCDC98 does not play an important role as a high penetrance breast cancer susceptibility gene.
      Title: Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Analysis of the genes coding for the BRCA1-interacting proteins, RAP80 and Abraxas (CCDC98), in high-risk, non-BRCA1/2, multiethnic breast cancer cases.
    7. the human Ubc13/Rnf8 ubiquitin ligases control foci formation of the Rap80/Abraxas/Brca1/Brcc36 complex in response to DNA damage
      Title: Ubc13/Rnf8 ubiquitin ligases control foci formation of the Rap80/Abraxas/Brca1/Brcc36 complex in response to DNA damage.
    8. CCDC98 is a mediator of BRCA1 function involved in the mammalian DNA damage response.
      Title: CCDC98 is a BRCA1-BRCT domain-binding protein involved in the DNA damage response.
    9. CCDC98 is a BRCA1 binding partner that mediates BRCA1 function in response to DNA damage.
      Title: CCDC98 targets BRCA1 to DNA damage sites.
    10. Abraxas and RAP80 were required for DNA damage resistance, G(2)-M checkpoint control, and DNA repair.
      Title: Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    Q6UWZ7 P38398 BRCA1    HPRD  PubMed  
    Q6UWZ7 Q96RL1 UIMC1    HPRD  PubMed  
    BioGRID:123911 BioGRID:118855 BABAM1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:123911 BioGRID:107056 BARD1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:123911 BioGRID:107140 BRCA1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-localization; Reconstituted Complex 
    BioGRID:123911 BioGRID:122599 BRCC3    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:123911 BioGRID:114946 BRE    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:123911 BioGRID:109540 HSPA4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:123911 BioGRID:115014 MDC1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:123911 BioGRID:116625 PAXIP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:123911 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:123911 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:123911 BioGRID:119697 UIMC1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-localization; Reconstituted Complex 

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ11520, FLJ12642, FLJ13614

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    polyubiquitin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    G2 DNA damage checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    chromatin modification IEA
    Inferred from Electronic Annotation
    more info
    		  
    double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    positive regulation of DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    response to ionizing radiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    BRCA1-A complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Preferred Names
    BRCA1-A complex subunit Abraxas
    Names
    BRCA1-A complex subunit Abraxas
    abraxas protein
    coiled-coil domain containing 98
    coiled-coil domain-containing protein 98

    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.

    mRNA and Protein(s)

    1. NM_139076.2 → NP_620775.2  BRCA1-A complex subunit Abraxas

      Status: VALIDATED

      Source sequence(s)
      AY358576, BC039573, BQ775930, DA765424
      Consensus CDS
      CCDS3605.2
      UniProtKB/Swiss-Prot
      Q6UWZ7
      Related
      ENSP00000369857, OTTHUMP00000160985, ENST00000321945, OTTHUMT00000252818

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000004.11 Reference GRCh37.p10 Primary Assembly

      Range
      84382092..84406290, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000136.1 Alternate HuRef

      Range
      80124868..80149059, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018915.1 Alternate CHM1_1.0

      Range
      84196913..84221110, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01063465.1 (104509..128700) None
    genomic AC096768.3 (78157..102315) None
    genomic AMYH01014359.1 (273599..297796) None
    genomic CH471057.1 EAX05941.1
      EAX05942.1
      EAX05943.1
    mRNA AK021582.1 None
    mRNA AK022704.1 BAB14189.1
    mRNA AK023676.1 BAB14635.1
    mRNA AY358576.1 AAQ88939.1
    mRNA BC016905.1 AAH16905.1
    mRNA BC039573.1 AAH39573.1
    mRNA BQ775930.1 None
    mRNA DA765424.1 None
    mRNA EF531340.1 ABP87396.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UWZ7.2 GenPept UniProtKB/Swiss-Prot:Q6UWZ7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

      General information

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