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

Gene ID: 83990, updated on 17-May-2023

Summary

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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; AllianceGenome:HGNC:20473
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
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Genomic context

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See BRIP1 in Genome Data Viewer
Location:
17q23.2
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (61679139..61863528, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (62547944..62734245, complement)
105.20220307 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 Sharpr-MPRA regulatory region 7395 Neighboring gene nascent polypeptide associated complex subunit alpha 2 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:59835525-59836270 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Spectrum of BRCA1 interacting helicase 1 aberrations and potential prognostic and therapeutic implication: a pan cancer analysis. Long G, et al. Sci Rep, 2023 Mar 17. PMID 36932143, Free PMC Article
  2. Multimolecular characteristics and role of BRCA1 interacting protein C-terminal helicase 1 (BRIP1) in human tumors: a pan-cancer analysis. Wang R, et al. World J Surg Oncol, 2023 Mar 13. PMID 36907870, Free PMC Article
  3. Dominant-negative pathogenic variant BRIP1 c.1045G>C is a high-risk allele for non-mucinous epithelial ovarian cancer: A case-control study. Flaum N, et al. Clin Genet, 2022 Jan. PMID 34585738
  4. Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report. Papez J, et al. Genes (Basel), 2021 Feb 3. PMID 33546375, Free PMC Article
  5. Two tSNPs in BRIP1 are associated with breast cancer during TDT analysis. Li X, et al. Mol Genet Genomic Med, 2021 Feb. PMID 33403820, Free PMC Article

See all (203) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
    Title: UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
  2. Spectrum of BRCA1 interacting helicase 1 aberrations and potential prognostic and therapeutic implication: a pan cancer analysis.
    Title: Spectrum of BRCA1 interacting helicase 1 aberrations and potential prognostic and therapeutic implication: a pan cancer analysis.
  3. Multimolecular characteristics and role of BRCA1 interacting protein C-terminal helicase 1 (BRIP1) in human tumors: a pan-cancer analysis.
    Title: Multimolecular characteristics and role of BRCA1 interacting protein C-terminal helicase 1 (BRIP1) in human tumors: a pan-cancer analysis.
  4. Dominant-negative pathogenic variant BRIP1 c.1045G>C is a high-risk allele for non-mucinous epithelial ovarian cancer: A case-control study.
    Title: Dominant-negative pathogenic variant BRIP1 c.1045G>C is a high-risk allele for non-mucinous epithelial ovarian cancer: A case-control study.
  5. BRIP1 rs10744996C>A variant increases the risk of chronic obstructive pulmonary disease in the Mongolian population of northern China.
    Title: BRIP1 rs10744996C>A variant increases the risk of chronic obstructive pulmonary disease in the Mongolian population of northern China.
  6. A Novel Role for BRIP1/FANCJ in Neuronal Cells Health and in Resolving Oxidative Stress-Induced DNA Lesions.
    Title: A Novel Role for BRIP1/FANCJ in Neuronal Cells Health and in Resolving Oxidative Stress-Induced DNA Lesions.
  7. BRIP1, a Gene Potentially Implicated in Familial Colorectal Cancer Type X.
    Title: BRIP1, a Gene Potentially Implicated in Familial Colorectal Cancer Type X.
  8. Comprehensive Mutational Analysis of the BRCA1-Associated DNA Helicase and Tumor-Suppressor FANCJ/BACH1/BRIP1.
    Title: Comprehensive Mutational Analysis of the BRCA1-Associated DNA Helicase and Tumor-Suppressor FANCJ/BACH1/BRIP1.
  9. Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.
    Title: Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.
  10. Two tSNPs in BRIP1 are associated with breast cancer during TDT analysis.
    Title: Two tSNPs in BRIP1 are associated with breast cancer during TDT analysis.
Submit: New GeneRIF Correction See all GeneRIFs (113)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

EBI GWAS Catalog

Description
Gene network analysis in a pediatric cohort identifies novel lung function genes.
EBI GWAS Catalog
Mutations in BRIP1 confer high risk of ovarian cancer.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 DNA repair NAS
Non-traceable Author Statement
more info
 PubMed 
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 homologous recombination NAS
Non-traceable Author Statement
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
part_of BRCA1-B complex IPI
Inferred from Physical Interaction
more info
 PubMed 
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

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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_011523641.1
XP_011523642.1
XP_011523643.1
XP_047292847.1
XP_047292848.1
XP_047292849.1
XP_047292850.1
XP_047292851.1
XP_047292852.1
XP_047292853.1
XP_047292855.1
XP_047292856.1
XP_047292857.1
XP_047292858.1
XP_047292859.1
XP_047292860.1
XP_054173470.1
XP_054173471.1
XP_054173472.1
XP_054173473.1
XP_054173474.1
XP_054173475.1
XP_054173476.1
XP_054173477.1
XP_054173478.1
XP_054173479.1
XP_054173480.1
XP_054173481.1
XP_054173482.1
XP_054173483.1
XP_054173484.1
XP_054173485.1
XP_054173486.1
XP_054173487.1
XP_054173488.1
XP_054173489.1
XP_054173490.1

NCBI Reference Sequences (RefSeq)

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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_032043.3 → NP_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
    Q8NCI5, Q9BX63
    UniProtKB/TrEMBL
    A0A024QZ45
    Related
    ENSP00000259008.2, ENST00000259008.7
    Conserved Domains (2) summary
    cl26203
    Location:18 → 61
    PolC; DNA polymerase III, alpha subunit (gram-positive type) [Replication, recombination and repair]
    cl26947
    Location:245 → 881
    HBB; Helical and beta-bridge domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    61679139..61863528 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047436893.1 → XP_047292849.1  Fanconi anemia group J protein isoform X4

  2. XM_047436891.1 → XP_047292847.1  Fanconi anemia group J protein isoform X2

    UniProtKB/Swiss-Prot
    Q8NCI5

  3. XM_011525333.4 → XP_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:245 → 901
    rad3; DNA repair helicase (rad3)
    pfam06733
    Location:248 → 415
    DEAD_2; DEAD_2
    pfam13307
    Location:700 → 886
    Helicase_C_2; Helicase C-terminal domain

  4. XM_011525336.3 → XP_011523638.1  Fanconi anemia group J protein isoform X4

    Conserved Domains (3) summary
    TIGR00604
    Location:245 → 861
    rad3; DNA repair helicase (rad3)
    pfam06733
    Location:248 → 415
    DEAD_2; DEAD_2
    pfam13307
    Location:660 → 846
    Helicase_C_2; Helicase C-terminal domain

  5. XM_011525335.4 → XP_011523637.1  Fanconi anemia group J protein isoform X3

    Conserved Domains (3) summary
    TIGR00604
    Location:245 → 881
    rad3; DNA repair helicase (rad3)
    pfam06733
    Location:248 → 415
    DEAD_2; DEAD_2
    pfam13307
    Location:680 → 866
    Helicase_C_2; Helicase C-terminal domain

  6. XM_011525332.4 → XP_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:245 → 901
    rad3; DNA repair helicase (rad3)
    pfam06733
    Location:248 → 415
    DEAD_2; DEAD_2
    pfam13307
    Location:700 → 886
    Helicase_C_2; Helicase C-terminal domain

  7. XM_047436894.1 → XP_047292850.1  Fanconi anemia group J protein isoform X4

  8. XM_047436892.1 → XP_047292848.1  Fanconi anemia group J protein isoform X2

    UniProtKB/Swiss-Prot
    Q8NCI5

  9. XM_011525334.3 → XP_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:245 → 901
    rad3; DNA repair helicase (rad3)
    pfam06733
    Location:248 → 415
    DEAD_2; DEAD_2
    pfam13307
    Location:700 → 886
    Helicase_C_2; Helicase C-terminal domain

  10. XM_047436901.1 → XP_047292857.1  Fanconi anemia group J protein isoform X8

    UniProtKB/TrEMBL
    A0A804HJU1
    Related
    ENSP00000507646.1, ENST00000683235.1

  11. XM_047436900.1 → XP_047292856.1  Fanconi anemia group J protein isoform X8

    UniProtKB/TrEMBL
    A0A804HJU1

  12. XM_011525340.4 → XP_011523642.1  Fanconi anemia group J protein isoform X6

    Conserved Domains (2) summary
    pfam06733
    Location:248 → 415
    DEAD_2; DEAD_2
    pfam13307
    Location:700 → 851
    Helicase_C_2; Helicase C-terminal domain

  13. XM_047436903.1 → XP_047292859.1  Fanconi anemia group J protein isoform X9

  14. XM_047436895.1 → XP_047292851.1  Fanconi anemia group J protein isoform X5

    UniProtKB/TrEMBL
    A0A804HL36

  15. XM_011525339.4 → XP_011523641.1  Fanconi anemia group J protein isoform X5

    UniProtKB/TrEMBL
    A0A804HL36
    Related
    ENSP00000508184.1, ENST00000683381.1
    Conserved Domains (3) summary
    TIGR00604
    Location:245 → 809
    rad3; DNA repair helicase (rad3)
    pfam06733
    Location:248 → 415
    DEAD_2; DEAD_2
    cl21455
    Location:700 → 814
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  16. XM_047436904.1 → XP_047292860.1  Fanconi anemia group J protein isoform X9

  17. XM_047436897.1 → XP_047292853.1  Fanconi anemia group J protein isoform X7

    UniProtKB/TrEMBL
    J3QKX0

  18. XM_047436902.1 → XP_047292858.1  Fanconi anemia group J protein isoform X9

  19. XM_047436896.1 → XP_047292852.1  Fanconi anemia group J protein isoform X7

    UniProtKB/TrEMBL
    J3QKX0
    Related
    ENSP00000463272.2, ENST00000584322.2

  20. XM_047436899.1 → XP_047292855.1  Fanconi anemia group J protein isoform X7

    UniProtKB/TrEMBL
    J3QKX0

  21. XM_011525341.4 → XP_011523643.1  Fanconi anemia group J protein isoform X10

    Conserved Domains (2) summary
    TIGR00604
    Location:245 → 648
    rad3; DNA repair helicase (rad3)
    pfam06733
    Location:248 → 415
    DEAD_2; DEAD_2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    62547944..62734245 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317499.1 → XP_054173474.1  Fanconi anemia group J protein isoform X2

  2. XM_054317497.1 → XP_054173472.1  Fanconi anemia group J protein isoform X1

  3. XM_054317503.1 → XP_054173478.1  Fanconi anemia group J protein isoform X4

  4. XM_054317502.1 → XP_054173477.1  Fanconi anemia group J protein isoform X4

  5. XM_054317498.1 → XP_054173473.1  Fanconi anemia group J protein isoform X2

  6. XM_054317496.1 → XP_054173471.1  Fanconi anemia group J protein isoform X1

  7. XM_054317501.1 → XP_054173476.1  Fanconi anemia group J protein isoform X4

  8. XM_054317500.1 → XP_054173475.1  Fanconi anemia group J protein isoform X3

  9. XM_054317495.1 → XP_054173470.1  Fanconi anemia group J protein isoform X1

  10. XM_054317511.1 → XP_054173486.1  Fanconi anemia group J protein isoform X8

    UniProtKB/TrEMBL
    A0A804HJU1

  11. XM_054317510.1 → XP_054173485.1  Fanconi anemia group J protein isoform X8

    UniProtKB/TrEMBL
    A0A804HJU1

  12. XM_054317506.1 → XP_054173481.1  Fanconi anemia group J protein isoform X6

  13. XM_054317514.1 → XP_054173489.1  Fanconi anemia group J protein isoform X9

  14. XM_054317513.1 → XP_054173488.1  Fanconi anemia group J protein isoform X9

  15. XM_054317505.1 → XP_054173480.1  Fanconi anemia group J protein isoform X5

    UniProtKB/TrEMBL
    A0A804HL36

  16. XM_054317504.1 → XP_054173479.1  Fanconi anemia group J protein isoform X5

    UniProtKB/TrEMBL
    A0A804HL36

  17. XM_054317509.1 → XP_054173484.1  Fanconi anemia group J protein isoform X7

    UniProtKB/TrEMBL
    J3QKX0

  18. XM_054317508.1 → XP_054173483.1  Fanconi anemia group J protein isoform X7

    UniProtKB/TrEMBL
    J3QKX0

  19. XM_054317512.1 → XP_054173487.1  Fanconi anemia group J protein isoform X9

  20. XM_054317507.1 → XP_054173482.1  Fanconi anemia group J protein isoform X7

    UniProtKB/TrEMBL
    J3QKX0

  21. XM_054317515.1 → XP_054173490.1  Fanconi anemia group J protein isoform X10

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BX63.2 GenPept UniProtKB/Swiss-Prot:Q9BX63

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