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

Gene ID: 83990, updated on 14-Nov-2024

Summary

Official Symbol
BRIP1provided by HGNC
Official Full Name
BRCA1 interacting DNA 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

See BRIP1 in Genome Data Viewer
Location:
17q23.2
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (61679139..61863528, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (62547944..62734245, complement)
RS_2024_09 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 uncharacterized LOC124904042 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:59531395-59532276 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:59532277-59533157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59539816-59540478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59541142-59541803 Neighboring gene Sharpr-MPRA regulatory region 11492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59553878-59554580 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59554581-59555281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59563448-59564310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59564311-59565173 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59591549-59592049 Neighboring gene T-box transcription factor 4 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 ATAC-STARR-seq lymphoblastoid active region 12535 Neighboring gene VISTA enhancer hs778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12536 Neighboring gene integrator complex subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8802 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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 ATP-dependent H2AZ histone chaperone activity IEA
Inferred from Electronic Annotation
more info
 
enables ATP-dependent H3-H4 histone complex chaperone activity IEA
Inferred from Electronic Annotation
more info
 
enables DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
enables DNA clamp loader activity IEA
Inferred from Electronic Annotation
more info
 
enables DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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 chromatin extrusion motor activity IEA
Inferred from Electronic Annotation
more info
 
enables cohesin loader activity IEA
Inferred from Electronic Annotation
more info
 
enables isomerase activity 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 G-quadruplex DNA unwinding IDA
Inferred from Direct Assay
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 chromatin looping IEA
Inferred from Electronic Annotation
more info
 
involved_in chromatin remodeling 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
 
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
 
involved_in protein-DNA covalent cross-linking repair IDA
Inferred from Direct Assay
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
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus NAS
Non-traceable Author Statement
more info
PubMed 
is_active_in replication fork IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
Fanconi anemia group J protein
Names
ATP-dependent RNA helicase BRIP1
BRCA1 interacting helicase 1
BRCA1 interacting protein C-terminal helicase 1
BRCA1-associated C-terminal helicase 1
BRCA1-binding helicase-like protein BACH1
BRCA1/BRCA2-associated helicase 1
DNA 5'-3' helicase FANCJ
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)

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
    A0A024QZ45, Q3MJE2, Q8NCI5, Q9BX63
    UniProtKB/TrEMBL
    A0A804HJV4
    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: GCF_000001405.40-RS_2024_08

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_047436893.1XP_047292849.1  Fanconi anemia group J protein isoform X4

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

    UniProtKB/Swiss-Prot
    A0A024QZ45, Q3MJE2, Q8NCI5, Q9BX63
  3. XM_011525333.4XP_011523635.1  Fanconi anemia group J protein isoform X1

    See identical proteins and their annotated locations for XP_011523635.1

    UniProtKB/TrEMBL
    A0A804HJV4
    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_011525336.3XP_011523638.1  Fanconi anemia group J protein isoform X4

    UniProtKB/TrEMBL
    A0A804HJV4
    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
  5. XM_011525335.4XP_011523637.1  Fanconi anemia group J protein isoform X3

    UniProtKB/TrEMBL
    A0A804HJV4
    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
  6. XM_011525332.4XP_011523634.1  Fanconi anemia group J protein isoform X1

    See identical proteins and their annotated locations for XP_011523634.1

    UniProtKB/TrEMBL
    A0A804HJV4
    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_047436894.1XP_047292850.1  Fanconi anemia group J protein isoform X4

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

    UniProtKB/Swiss-Prot
    A0A024QZ45, Q3MJE2, Q8NCI5, Q9BX63
  9. XM_011525334.3XP_011523636.1  Fanconi anemia group J protein isoform X1

    See identical proteins and their annotated locations for XP_011523636.1

    UniProtKB/TrEMBL
    A0A804HJV4
    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
  10. XM_047436901.1XP_047292857.1  Fanconi anemia group J protein isoform X8

    UniProtKB/TrEMBL
    A0A804HJU1
    Related
    ENSP00000507646.1, ENST00000683235.1
  11. XM_047436900.1XP_047292856.1  Fanconi anemia group J protein isoform X8

    UniProtKB/TrEMBL
    A0A804HJU1
  12. XM_011525340.4XP_011523642.1  Fanconi anemia group J protein isoform X6

    UniProtKB/TrEMBL
    A0A804HK62
    Conserved Domains (2) summary
    pfam06733
    Location:248415
    DEAD_2; DEAD_2
    pfam13307
    Location:700851
    Helicase_C_2; Helicase C-terminal domain
  13. XM_047436903.1XP_047292859.1  Fanconi anemia group J protein isoform X9

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

    UniProtKB/TrEMBL
    A0A804HL36
  15. XM_011525339.4XP_011523641.1  Fanconi anemia group J protein isoform X5

    UniProtKB/TrEMBL
    A0A804HK62, A0A804HL36
    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
  16. XM_047436904.1XP_047292860.1  Fanconi anemia group J protein isoform X9

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

    UniProtKB/TrEMBL
    J3QKX0
  18. XM_047436902.1XP_047292858.1  Fanconi anemia group J protein isoform X9

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

    UniProtKB/TrEMBL
    J3QKX0
    Related
    ENSP00000463272.2, ENST00000584322.2
  20. XM_047436899.1XP_047292855.1  Fanconi anemia group J protein isoform X7

    UniProtKB/TrEMBL
    J3QKX0
  21. XM_011525341.4XP_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 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_054317499.1XP_054173474.1  Fanconi anemia group J protein isoform X2

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

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

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

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

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

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

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

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

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

    UniProtKB/TrEMBL
    A0A804HJU1
  11. XM_054317510.1XP_054173485.1  Fanconi anemia group J protein isoform X8

    UniProtKB/TrEMBL
    A0A804HJU1
  12. XM_054317506.1XP_054173481.1  Fanconi anemia group J protein isoform X6

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

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

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

    UniProtKB/TrEMBL
    A0A804HL36
  16. XM_054317504.1XP_054173479.1  Fanconi anemia group J protein isoform X5

    UniProtKB/TrEMBL
    A0A804HL36
  17. XM_054317509.1XP_054173484.1  Fanconi anemia group J protein isoform X7

    UniProtKB/TrEMBL
    J3QKX0
  18. XM_054317508.1XP_054173483.1  Fanconi anemia group J protein isoform X7

    UniProtKB/TrEMBL
    J3QKX0
  19. XM_054317512.1XP_054173487.1  Fanconi anemia group J protein isoform X9

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

    UniProtKB/TrEMBL
    J3QKX0
  21. XM_054317515.1XP_054173490.1  Fanconi anemia group J protein isoform X10