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

Gene ID: 83990, updated on 17-Oct-2018

Summary

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]
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

Genomic context

See BRIP1 in Genome Data Viewer
Location:
17q23.2
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...

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
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
nucleotide-excision repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II 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
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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-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

NCBI Reference Sequences (RefSeq)

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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    61679186..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

  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_011525340.3XP_011523642.1  Fanconi anemia group J protein isoform X9

    Related
    ENSP00000464654.1, OTTHUMP00000260962, ENST00000577598.5
    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

    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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