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    BRIP1 BRCA1 interacting helicase 1 [ Homo sapiens (human) ]

    Gene ID: 83990, updated on 8-Jul-2021

    Summary

    Official Symbol
    BRIP1provided by HGNC
    Official Full Name
    BRCA1 interacting helicase 1provided by HGNC
    Primary source
    HGNC:HGNC:20473
    See related
    Ensembl:ENSG00000136492 MIM:605882
    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
    OF; BACH1; FANCJ
    Summary
    The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]
    Annotation information
    Note: BACH1 (Gene ID: 571) and BRIP1 (Gene ID: 83990) share the BACH1 symbol/alias in common. BACH1 is a widely used alternative name for BRCA1 interacting protein C-terminal helicase 1 (BRIP1), which can be confused with the official symbol for BTB domain and CNC homolog 1 (BACH1). [10 Jul 2018]
    Expression
    Broad expression in testis (RPKM 1.9), bone marrow (RPKM 1.0) and 16 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See BRIP1 in Genome Data Viewer
    Location:
    17q23.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (61679139..61864120, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (59756500..59940889, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene T-box transcription factor 4 Neighboring gene nascent polypeptide associated complex subunit alpha 2 Neighboring gene VISTA enhancer hs778 Neighboring gene integrator complex subunit 2 Neighboring gene mediator complex subunit 13 Neighboring gene RNA, 7SL, cytoplasmic 800, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Familial cancer of breast Compare labs
    Fanconi anemia, complementation group J Compare labs
    Gene network analysis in a pediatric cohort identifies novel lung function genes.
    GeneReviews: Not available
    Mutations in BRIP1 confer high risk of ovarian cancer.
    GeneReviews: Not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-02-15)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2019-02-15)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ90232, MGC126521, MGC126523

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables 5'-3' DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA helicase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables RNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage checkpoint signaling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to angiotensin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to vitamin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chiasma assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in double-strand break repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in double-strand break repair involved in meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in meiotic DNA double-strand break processing involved in reciprocal meiotic recombination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nucleotide-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
     
    involved_in response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in seminiferous tubule development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatid development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatogonial cell division IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    Fanconi anemia group J protein
    Names
    ATP-dependent RNA helicase BRIP1
    BRCA1 interacting protein C-terminal helicase 1
    BRCA1-associated C-terminal helicase 1
    BRCA1-binding helicase-like protein BACH1
    BRCA1/BRCA2-associated helicase 1
    FANCJ helicase
    NP_114432.2
    XP_011523634.1
    XP_011523635.1
    XP_011523636.1
    XP_011523637.1
    XP_011523638.1
    XP_011523639.1
    XP_011523640.1
    XP_011523641.1
    XP_011523642.1
    XP_011523643.1
    XP_016880689.1
    XP_016880690.1
    XP_016880691.1
    XP_016880692.1

    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_007409.2 RefSeqGene

      Range
      5001..189374
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_300

    mRNA and Protein(s)

    1. NM_032043.3NP_114432.2  Fanconi anemia group J protein

      See identical proteins and their annotated locations for NP_114432.2

      Status: REVIEWED

      Source sequence(s)
      AC002994, AC060798, AF360549
      Consensus CDS
      CCDS11631.1
      UniProtKB/Swiss-Prot
      Q9BX63
      UniProtKB/TrEMBL
      A0A024QZ45
      Related
      ENSP00000259008.2, ENST00000259008.7
      Conserved Domains (2) summary
      cl26203
      Location:1861
      PolC; DNA polymerase III, alpha subunit (gram-positive type) [Replication, recombination and repair]
      cl26947
      Location:245881
      HBB; Helical and beta-bridge domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      61679139..61864120 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525333.3XP_011523635.1  Fanconi anemia group J protein isoform X1

      See identical proteins and their annotated locations for XP_011523635.1

      Conserved Domains (3) summary
      TIGR00604
      Location:245901
      rad3; DNA repair helicase (rad3)
      pfam06733
      Location:248415
      DEAD_2; DEAD_2
      pfam13307
      Location:700886
      Helicase_C_2; Helicase C-terminal domain
    2. XM_011525335.3XP_011523637.1  Fanconi anemia group J protein isoform X2

      Conserved Domains (3) summary
      TIGR00604
      Location:245881
      rad3; DNA repair helicase (rad3)
      pfam06733
      Location:248415
      DEAD_2; DEAD_2
      pfam13307
      Location:680866
      Helicase_C_2; Helicase C-terminal domain
    3. XM_011525332.3XP_011523634.1  Fanconi anemia group J protein isoform X1

      See identical proteins and their annotated locations for XP_011523634.1

      Conserved Domains (3) summary
      TIGR00604
      Location:245901
      rad3; DNA repair helicase (rad3)
      pfam06733
      Location:248415
      DEAD_2; DEAD_2
      pfam13307
      Location:700886
      Helicase_C_2; Helicase C-terminal domain
    4. XM_011525337.2XP_011523639.1  Fanconi anemia group J protein isoform X4

      Conserved Domains (3) summary
      TIGR00604
      Location:245834
      rad3; DNA repair helicase (rad3)
      pfam06733
      Location:248415
      DEAD_2; DEAD_2
      pfam13307
      Location:633819
      Helicase_C_2; Helicase C-terminal domain
    5. XM_011525336.2XP_011523638.1  Fanconi anemia group J protein isoform X3

      Conserved Domains (3) summary
      TIGR00604
      Location:245861
      rad3; DNA repair helicase (rad3)
      pfam06733
      Location:248415
      DEAD_2; DEAD_2
      pfam13307
      Location:660846
      Helicase_C_2; Helicase C-terminal domain
    6. XM_011525334.2XP_011523636.1  Fanconi anemia group J protein isoform X1

      See identical proteins and their annotated locations for XP_011523636.1

      Conserved Domains (3) summary
      TIGR00604
      Location:245901
      rad3; DNA repair helicase (rad3)
      pfam06733
      Location:248415
      DEAD_2; DEAD_2
      pfam13307
      Location:700886
      Helicase_C_2; Helicase C-terminal domain
    7. XM_017025200.1XP_016880689.1  Fanconi anemia group J protein isoform X6

      Related
      ENSP00000508044.1, ENST00000684584.1
    8. XM_011525338.2XP_011523640.1  Fanconi anemia group J protein isoform X5

      Conserved Domains (3) summary
      TIGR00604
      Location:84740
      rad3; DNA repair helicase (rad3)
      pfam06733
      Location:87254
      DEAD_2; DEAD_2
      pfam13307
      Location:539725
      Helicase_C_2; Helicase C-terminal domain
    9. XM_017025201.1XP_016880690.1  Fanconi anemia group J protein isoform X7

    10. XM_017025203.1XP_016880692.1  Fanconi anemia group J protein isoform X11

      Related
      ENST00000683535.1
    11. XM_017025202.1XP_016880691.1  Fanconi anemia group J protein isoform X11

    12. XM_011525340.3XP_011523642.1  Fanconi anemia group J protein isoform X9

      Related
      ENSP00000507646.1, ENST00000683235.1
      Conserved Domains (2) summary
      pfam06733
      Location:248415
      DEAD_2; DEAD_2
      pfam13307
      Location:700851
      Helicase_C_2; Helicase C-terminal domain
    13. XM_011525339.3XP_011523641.1  Fanconi anemia group J protein isoform X8

      Related
      ENSP00000508184.1, ENST00000683381.1
      Conserved Domains (3) summary
      TIGR00604
      Location:245809
      rad3; DNA repair helicase (rad3)
      pfam06733
      Location:248415
      DEAD_2; DEAD_2
      cl21455
      Location:700814
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    14. XM_011525341.3XP_011523643.1  Fanconi anemia group J protein isoform X10

      Conserved Domains (2) summary
      TIGR00604
      Location:245648
      rad3; DNA repair helicase (rad3)
      pfam06733
      Location:248415
      DEAD_2; DEAD_2
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