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Aliases for BRIP1 Gene

Aliases for BRIP1 Gene

  • BRCA1 Interacting Protein C-Terminal Helicase 1 2 3 5
  • BRCA1-Associated C-Terminal Helicase 1 3 4
  • BRCA1/BRCA2-Associated Helicase 1 2 3
  • ATP-Dependent RNA Helicase BRIP1 3 4
  • BACH1 3 4
  • FANCJ 3 4
  • BRCA1-Interacting Protein C-Terminal Helicase 1 4
  • BRCA1-Binding Helicase-Like Protein BACH1 3
  • Fanconi Anemia Group J Protein 3
  • BRCA1-Interacting Protein 1 4
  • Protein FACJ 4
  • EC 4
  • OF 3

External Ids for BRIP1 Gene

Previous GeneCards Identifiers for BRIP1 Gene

  • GC17M059523
  • GC17M062245
  • GC17M060101
  • GC17M060234
  • GC17M057114
  • GC17M059759
  • GC17M055122

Summaries for BRIP1 Gene

Entrez Gene Summary for BRIP1 Gene

  • 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]

GeneCards Summary for BRIP1 Gene

BRIP1 (BRCA1 Interacting Protein C-Terminal Helicase 1) is a Protein Coding gene. Diseases associated with BRIP1 include Fanconi Anemia, Complementation Group J and Breast Cancer. Among its related pathways are Gene Expression and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and 4 iron, 4 sulfur cluster binding. An important paralog of this gene is RTEL1.

UniProtKB/Swiss-Prot for BRIP1 Gene

  • DNA-dependent ATPase and 5 to 3 DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1.

Gene Wiki entry for BRIP1 Gene

Additional gene information for BRIP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BRIP1 Gene

Genomics for BRIP1 Gene

GeneHancer (GH) Regulatory Elements for BRIP1 Gene

Promoters and enhancers for BRIP1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J061861 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 658.3 +1.0 986 3.5 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 BRIP1 RPS10P26 MED13 GC17M061751
GH17J062062 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 5.9 -200.6 -200558 4.3 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MED13 TBC1D3P2 USP32P4 EFCAB3 RPLP2P5 RPS23P7 LOC101927877 TRMT112P3 RPS10P26 TLK2
GH17J061815 Enhancer 0.8 VISTA ENCODE 11.6 +47.6 47633 1.1 JUNB FOS SPI1 BRIP1 GC17M061751 GC17P061743
GH17J061837 Enhancer 0.6 ENCODE 6.7 +26.5 26522 0.2 CTCF ZNF654 TRIM22 ZBTB25 PYGO2 ZNF384 REST RAD21 ZSCAN21 ZNF366 BRIP1 GC17M061751
GH17J061904 Enhancer 0.4 ENCODE 7.3 -40.7 -40723 1.2 JUNB RBBP5 CREM BRIP1 INTS2 GC17M061875 ENSG00000202361
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BRIP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BRIP1 gene promoter:
  • RP58
  • Sox9
  • HNF-1A
  • HNF-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • Cdc5
  • ATF-2

Genomic Locations for BRIP1 Gene

Genomic Locations for BRIP1 Gene
184,752 bases
Minus strand
184,374 bases
Minus strand

Genomic View for BRIP1 Gene

Genes around BRIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BRIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BRIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BRIP1 Gene

Proteins for BRIP1 Gene

  • Protein details for BRIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Fanconi anemia group J protein
    Protein Accession:
    Secondary Accessions:
    • Q3MJE2
    • Q8NCI5

    Protein attributes for BRIP1 Gene

    1249 amino acids
    Molecular mass:
    140878 Da
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Binds directly to the BRCT domains of BRCA1.
    • Sequence=BAC11156.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BRIP1 Gene

    Alternative splice isoforms for BRIP1 Gene


neXtProt entry for BRIP1 Gene

Post-translational modifications for BRIP1 Gene

  • Phosphorylated. Phosphorylation is necessary for interaction with BRCA1, and is cell-cycle regulated.
  • Acetylation at Lys-1249 facilitates DNA end processing required for repair and checkpoint signaling.
  • Ubiquitination at Lys862
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BRIP1 Gene

Domains & Families for BRIP1 Gene

Gene Families for BRIP1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for BRIP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • 4Fe-4S iron-sulfur-binding is required for helicase activity.
  • Belongs to the DEAD box helicase family. DEAH subfamily.
  • 4Fe-4S iron-sulfur-binding is required for helicase activity.
  • Belongs to the DEAD box helicase family. DEAH subfamily.
genes like me logo Genes that share domains with BRIP1: view

Function for BRIP1 Gene

Molecular function for BRIP1 Gene

UniProtKB/Swiss-Prot Function:
DNA-dependent ATPase and 5 to 3 DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.

Enzyme Numbers (IUBMB) for BRIP1 Gene

Phenotypes From GWAS Catalog for BRIP1 Gene

Gene Ontology (GO) - Molecular Function for BRIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding NAS,IEA 15878853
GO:0003682 chromatin binding IEA --
GO:0004003 ATP-dependent DNA helicase activity NAS,IEA 11301010
genes like me logo Genes that share ontologies with BRIP1: view
genes like me logo Genes that share phenotypes with BRIP1: view

Human Phenotype Ontology for BRIP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Transcription Factor Targets for BRIP1 Gene

Selected GeneGlobe predicted Target genes for BRIP1

Clone Products

  • Addgene plasmids for BRIP1

No data available for Animal Models and HOMER Transcription for BRIP1 Gene

Localization for BRIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRIP1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BRIP1 gene
Compartment Confidence
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BRIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS,IEA 11301010
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 14504288
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with BRIP1: view

Pathways & Interactions for BRIP1 Gene

genes like me logo Genes that share pathways with BRIP1: view

Pathways by source for BRIP1 Gene

1 GeneGo (Thomson Reuters) pathway for BRIP1 Gene
1 Cell Signaling Technology pathway for BRIP1 Gene

Gene Ontology (GO) - Biological Process for BRIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint NAS 14576433
GO:0000731 DNA synthesis involved in DNA repair TAS --
GO:0000732 strand displacement TAS --
GO:0006139 nucleobase-containing compound metabolic process IEA --
GO:0006260 DNA replication TAS --
genes like me logo Genes that share ontologies with BRIP1: view

No data available for SIGNOR curated interactions for BRIP1 Gene

Drugs & Compounds for BRIP1 Gene

(5) Drugs for BRIP1 Gene - From: ClinicalTrials and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rucaparib Approved, Investigational Pharma PARP inhibitor, PARP Inhibitors, Other 23
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0
Poly(ADP-ribose) Polymerase Inhibitors Pharma 389

(1) Additional Compounds for BRIP1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with BRIP1: view

Transcripts for BRIP1 Gene

Unigene Clusters for BRIP1 Gene

BRCA1 interacting protein C-terminal helicase 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for BRIP1

Alternative Splicing Database (ASD) splice patterns (SP) for BRIP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21
SP1: - -
SP2: -

Relevant External Links for BRIP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BRIP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BRIP1 Gene

mRNA differential expression in normal tissues according to GTEx for BRIP1 Gene

This gene is overexpressed in Testis (x7.5).

Protein differential expression in normal tissues from HIPED for BRIP1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (65.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BRIP1 Gene

Protein tissue co-expression partners for BRIP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of BRIP1 Gene:


SOURCE GeneReport for Unigene cluster for BRIP1 Gene:


mRNA Expression by UniProt/SwissProt for BRIP1 Gene:

Tissue specificity: Ubiquitously expressed, with highest levels in testis.

Phenotype-based relationships between genes and organs from Gene ORGANizer for BRIP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • breast
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • intestine
  • kidney
  • large intestine
  • liver
  • stomach
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
  • arm
  • digit
  • finger
  • forearm
  • hand
  • radius
  • upper limb
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with BRIP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Evidence on tissue expression from TISSUES for BRIP1 Gene

Orthologs for BRIP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BRIP1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BRIP1 34 33
  • 99.6 (n)
(Canis familiaris)
Mammalia BRIP1 34 33
  • 88.52 (n)
(Bos Taurus)
Mammalia BRIP1 34 33
  • 87.39 (n)
(Mus musculus)
Mammalia Brip1 16 34 33
  • 80.73 (n)
(Rattus norvegicus)
Mammalia Brip1 33
  • 80.08 (n)
(Ornithorhynchus anatinus)
Mammalia BRIP1 34
  • 67 (a)
(Monodelphis domestica)
Mammalia BRIP1 34
  • 67 (a)
(Gallus gallus)
Aves BRIP1 34 33
  • 64.51 (n)
(Anolis carolinensis)
Reptilia BRIP1 34
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia brip1 33
  • 61.68 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68622 33
(Danio rerio)
Actinopterygii brip1 34 33
  • 62.34 (n)
Dr.15442 33
fruit fly
(Drosophila melanogaster)
Insecta CG4078 35
  • 39 (a)
(Caenorhabditis elegans)
Secernentea dog-1 34 35
  • 25 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHL1 34
  • 23 (a)
Species where no ortholog for BRIP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BRIP1 Gene

Gene Tree for BRIP1 (if available)
Gene Tree for BRIP1 (if available)
Evolutionary constrained regions (ECRs) for BRIP1: view image

Paralogs for BRIP1 Gene

Paralogs for BRIP1 Gene

(3) SIMAP similar genes for BRIP1 Gene using alignment to 5 proteins:

  • J3KS24_HUMAN
genes like me logo Genes that share paralogs with BRIP1: view

Variants for BRIP1 Gene

Sequence variations from dbSNP and Humsavar for BRIP1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1007260409 uncertain-significance, Neoplasm of the breast, Fanconi anemia 61,680,774(-) T/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1007366346 uncertain-significance, Fanconi anemia, Neoplasm of the breast 61,679,372(-) A/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1007808618 uncertain-significance, not specified, Hereditary cancer-predisposing syndrome 61,686,013(-) C/G/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant
rs1009398860 likely-benign, Hereditary cancer-predisposing syndrome 61,693,527(-) G/A genic_downstream_transcript_variant, intron_variant
rs1028347439 pathogenic, Hereditary cancer-predisposing syndrome 61,801,267(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for BRIP1 Gene

Variant ID Type Subtype PubMed ID
dgv5740n54 CNV loss 21841781
dgv579e214 CNV loss 21293372
esv2489612 CNV deletion 19546169
esv2576756 CNV deletion 19546169
esv3302702 CNV tandem duplication 20981092
esv3438776 CNV insertion 20981092
esv3640953 CNV gain 21293372
esv7670 CNV gain 19470904
esv9358 CNV gain 19470904
nsv1071396 CNV deletion 25765185
nsv1111148 CNV tandem duplication 24896259
nsv1134664 CNV deletion 24896259
nsv575843 CNV loss 21841781

Variation tolerance for BRIP1 Gene

Residual Variation Intolerance Score: 8.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.73; 46.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BRIP1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRIP1 Gene

Disorders for BRIP1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for BRIP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fanconi anemia, complementation group j
  • fancj
breast cancer
  • breast cancer, familial
hereditary breast ovarian cancer syndrome
  • brca1- and brca2-associated hereditary breast and ovarian cancer
ovarian cancer
  • ovarian cancer, somatic
fanconi anemia, complementation group a
  • fanca
- elite association - COSMIC cancer census association via MalaCards
Search BRIP1 in MalaCards View complete list of genes associated with diseases


  • Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269 PubMed:11301010, ECO:0000269 PubMed:14983014}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Fanconi anemia complementation group J (FANCJ) [MIM:609054]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269 PubMed:16116423, ECO:0000269 PubMed:16116424, ECO:0000269 PubMed:20639400}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for BRIP1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BRIP1: view

No data available for Genatlas for BRIP1 Gene

Publications for BRIP1 Gene

  1. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. (PMID: 11301010) Cantor SB … Livingston DM (Cell 2001) 2 3 4 22 58
  2. Polymorphisms in BRCA1, BRCA1-interacting genes and susceptibility of breast cancer in Chinese women. (PMID: 19484476) Huo X … Tang J (Journal of cancer research and clinical oncology 2009) 3 22 44 58
  3. Mutation analysis of BRIP1/BACH1 in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives. (PMID: 18483852) Cao AY … Shao ZM (Breast cancer research and treatment 2009) 3 22 44 58
  4. Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families. (PMID: 18414782) Guénard F … INHERIT BRCAs (Journal of human genetics 2008) 3 22 44 58
  5. The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair. (PMID: 16116421) Bridge WL … Hiom K (Nature genetics 2005) 3 4 22 58

Products for BRIP1 Gene

Sources for BRIP1 Gene

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