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    BRIP1 BRCA1 interacting protein C-terminal helicase 1 [ Homo sapiens (human) ]

    Gene ID: 83990, updated on 20-May-2017
    Official Symbol
    BRIP1provided by HGNC
    Official Full Name
    BRCA1 interacting protein C-terminal helicase 1provided by HGNC
    Primary source
    HGNC:HGNC:20473
    See related
    Ensembl:ENSG00000136492 MIM:605882; Vega:OTTHUMG00000179233
    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]
    Orthologs
    Location:
    17q23.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (61679186..61864120, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (59756547..59940920, complement)

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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
      Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
    • Cytosolic iron-sulfur cluster assembly, organism-specific biosystem (from REACTOME)
      Cytosolic iron-sulfur cluster assembly, organism-specific biosystemIron-sulfur clusters containing 4 atoms of iron and 4 atoms of sulfur (4Fe-4S clusters) are assembled in the cytosol on a heterotetrameric scaffold composed of NUBP2 and NUBP1 subunits (reviewed in L...
    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
      Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Fanconi anemia pathway, conserved biosystem (from KEGG)
      Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • G2/M Checkpoints, organism-specific biosystem (from REACTOME)
      G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
    • G2/M DNA damage checkpoint, organism-specific biosystem (from REACTOME)
      G2/M DNA damage checkpoint, organism-specific biosystemThroughout the cell cycle, the genome is constantly monitored for damage, resulting either from errors of replication, by-products of metabolism or through extrinsic sources such as ultra-violet or i...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
    • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
    • HDR through Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) through single strand annealing (SSA), similar to HDR through homologous recombination repair (HRR), involves extensive resection of DNA double strand break ends (DSBs)...
    • Homologous DNA Pairing and Strand Exchange, organism-specific biosystem (from REACTOME)
      Homologous DNA Pairing and Strand Exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange begins with the displacement of RPA from 3'-ssDNA overhangs created by extensive resection of DNA double strand break (DSB) ends. R...
    • Homologous recombination, organism-specific biosystem (from KEGG)
      Homologous recombination, organism-specific biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
    • Homologous recombination, conserved biosystem (from KEGG)
      Homologous recombination, conserved biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
    • Homology Directed Repair, organism-specific biosystem (from REACTOME)
      Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystem (from REACTOME)
      Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange during homologous recombination repair (HRR) begins with the displacement of RPA from ssDNA (Thompson and Limoli 2003) by the joint...
    • Processing of DNA double-strand break ends, organism-specific biosystem (from REACTOME)
      Processing of DNA double-strand break ends, organism-specific biosystemHomology directed repair (HDR) through homologous recombination (HRR) or single strand annealing (SSA) requires extensive resection of DNA double strand break (DSB) ends (Thompson and Limoli 2003, Ci...
    • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
    • Regulation of TP53 Activity through Phosphorylation, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity through Phosphorylation, organism-specific biosystemPhosphorylation of TP53 (p53) at the N-terminal serine residues S15 and S20 plays a critical role in protein stabilization as phosphorylation at these sites interferes with binding of the ubiquitin l...
    • Resolution of D-Loop Structures, organism-specific biosystem (from REACTOME)
      Resolution of D-Loop Structures, organism-specific biosystemOnce repair synthesis has occurred, the D-loop structure may be resolved either through Holliday junction intermediates or through synthesis-dependent strand-annealing (SDSA) (Prado and Aguilera 2003...
    • Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystem (from REACTOME)
      Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystemD-loops generated after strand invasion and DNA repair synthesis during homologous recombination repair (HRR) can be resolved through Holliday junction intermediates.A D-loop can be cleaved by the co...
    • Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystem (from REACTOME)
      Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystemIn the synthesis-dependent strand-annealing (SDSA) model of D-loop resolution, D-loop strands extended by DNA repair synthesis dissociate from their sister chromatid complements and reanneal with the...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ90232, MGC126521, MGC126523

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP-dependent DNA helicase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA damage checkpoint NAS
    Non-traceable Author Statement
    more info
    PubMed 
    DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA replication TAS
    Traceable Author Statement
    more info
     
    DNA synthesis involved in DNA repair TAS
    Traceable Author Statement
    more info
     
    cellular response to angiotensin IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to vitamin IEA
    Inferred from Electronic Annotation
    more info
     
    chiasma assembly IEA
    Inferred from Electronic Annotation
    more info
     
    double-strand break repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    double-strand break repair involved in meiotic recombination IEA
    Inferred from Electronic Annotation
    more info
     
    meiotic DNA double-strand break processing involved in reciprocal meiotic recombination IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of signal transduction by p53 class mediator TAS
    Traceable Author Statement
    more info
     
    regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    seminiferous tubule development IEA
    Inferred from Electronic Annotation
    more info
     
    spermatid development IEA
    Inferred from Electronic Annotation
    more info
     
    spermatogonial cell division IEA
    Inferred from Electronic Annotation
    more info
     
    strand displacement TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    Fanconi anemia group J protein
    Names
    ATP-dependent RNA helicase BRIP1
    BRCA1-associated C-terminal helicase 1
    BRCA1-binding helicase-like protein BACH1
    BRCA1/BRCA2-associated helicase 1
    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

    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_032043.2NP_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, OTTHUMP00000260961, ENST00000259008.6, OTTHUMT00000445362
      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

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      61679186..61864120 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525333.2XP_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_011525335.2XP_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_011525332.2XP_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

    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

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

    12. XM_011525340.2XP_011523642.1  Fanconi anemia group J protein isoform X9

      Related
      ENSP00000464654.1, OTTHUMP00000260962, ENST00000577598.5, OTTHUMT00000445363
      Conserved Domains (2) summary
      pfam06733
      Location:248415
      DEAD_2; DEAD_2
      pfam13307
      Location:700851
      Helicase_C_2; Helicase C-terminal domain
    13. XM_011525339.2XP_011523641.1  Fanconi anemia group J protein isoform X8

      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_011525341.2XP_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

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      59821037..60005473 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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