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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 3.6.4.13 4
  • EC 3.6.1 61
  • 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 Metabolism and Cytosolic iron-sulfur cluster assembly. 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

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

Genomics for BRIP1 Gene

Regulatory Elements for BRIP1 Gene

Enhancers for BRIP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F061815 1.4 VISTA Ensembl ENCODE 11.6 +47.6 47634 1.1 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 BRIP1 GC17M061751 GC17P061743
GH17F061615 0.2 Ensembl 9.4 +247.8 247836 0.6 PKNOX1 BMI1 EBF1 POLR2A EED ETV6 CREM SMAD5 MTA2 CBFB NACA2 BRIP1 GC17P061618
GH17F061809 1.6 Ensembl ENCODE 9 +53.8 53836 0.6 PKNOX1 GTF2E2 ETV1 ZNF175 BACH1 SIN3A ZNF384 IRF9 ZNF316 NFE2 BRIP1 GC17M061751 GC17P061743
GH17F061861 1.2 FANTOM5 ENCODE 8.3 +1.0 987 3.5 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 FOS C17orf82 RPS10P26 TBX2-AS1 BRIP1 GC17M061751
GH17F061904 0.2 ENCODE 7.3 -40.7 -40724 1.2 JUNB RBBP5 IRF1 CREM BRIP1 INTS2 ENSG00000202361 GC17M061875
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around BRIP1 on UCSC Golden Path with GeneCards custom track

Promoters for BRIP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001350610 737 2401 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 FOS

Genomic Location for BRIP1 Gene

Chromosome:
17
Start:
61,679,186 bp from pter
End:
61,863,937 bp from pter
Size:
184,752 bases
Orientation:
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:
    Q9BX63-FANCJ_HUMAN
    Recommended name:
    Fanconi anemia group J protein
    Protein Accession:
    Q9BX63
    Secondary Accessions:
    • Q3MJE2
    • Q8NCI5

    Protein attributes for BRIP1 Gene

    Size:
    1249 amino acids
    Molecular mass:
    140878 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Binds directly to the BRCT domains of BRCA1.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for BRIP1 Gene

Selected DME Specific Peptides for BRIP1 Gene

Post-translational modifications for BRIP1 Gene

  • Acetylation at Lys-1249 facilitates DNA end processing required for repair and checkpoint signaling.
  • Phosphorylated. Phosphorylation is necessary for interaction with BRCA1, and is cell-cycle regulated.
  • Ubiquitination at Lys 862
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BRIP1 (BRIP1)
  • Santa Cruz Biotechnology (SCBT) Antibodies for BRIP1

Domains & Families for BRIP1 Gene

Suggested Antigen Peptide Sequences for BRIP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BX63

UniProtKB/Swiss-Prot:

FANCJ_HUMAN :
  • 4Fe-4S iron-sulfur-binding is required for helicase activity.
  • Belongs to the DEAD box helicase family. DEAH subfamily.
Domain:
  • 4Fe-4S iron-sulfur-binding is required for helicase activity.
  • Contains 1 helicase ATP-binding domain.
Family:
  • 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 CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
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.

Enzyme Numbers (IUBMB) 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 IEA,NAS 15878853
GO:0003682 chromatin binding IEA --
GO:0004003 ATP-dependent DNA helicase activity IEA,NAS 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

miRNA for BRIP1 Gene

Transcription Factor Targets for BRIP1 Gene

Selected GeneGlobe predicted Target genes for BRIP1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BRIP1

Flow Cytometry Products

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

COMPARTMENTS
Jensen Localization Image for BRIP1 Gene COMPARTMENTS Subcellular localization image for BRIP1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for BRIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,NAS 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 Cell Signaling Technology pathway for BRIP1 Gene
2 KEGG pathways for BRIP1 Gene
1 GeneGo (Thomson Reuters) 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 14
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Poly(ADP-ribose) Polymerase Inhibitors Pharma 309

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with BRIP1: view

Transcripts for BRIP1 Gene

mRNA/cDNA for BRIP1 Gene

(15) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BRIP1 Gene

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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BRIP1

Flow Cytometry Products

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: -
SP3:
SP4:
SP5:

Relevant External Links for BRIP1 Gene

GeneLoc Exon Structure for
BRIP1
ECgene alternative splicing isoforms for
BRIP1

Expression for BRIP1 Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for BRIP1 Gene



Protein tissue co-expression partners for BRIP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of BRIP1 Gene:

BRIP1

SOURCE GeneReport for Unigene cluster for BRIP1 Gene:

Hs.128903

mRNA Expression by UniProt/SwissProt for BRIP1 Gene:

Q9BX63-FANCJ_HUMAN
Tissue specificity: Ubiquitously expressed, with highest levels in testis.
genes like me logo Genes that share expression patterns with BRIP1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
chimpanzee
(Pan troglodytes)
Mammalia BRIP1 34 35
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia BRIP1 34 35
  • 88.52 (n)
cow
(Bos Taurus)
Mammalia BRIP1 34 35
  • 87.39 (n)
mouse
(Mus musculus)
Mammalia Brip1 34 16 35
  • 80.73 (n)
rat
(Rattus norvegicus)
Mammalia Brip1 34
  • 80.08 (n)
oppossum
(Monodelphis domestica)
Mammalia BRIP1 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BRIP1 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves BRIP1 34 35
  • 64.51 (n)
lizard
(Anolis carolinensis)
Reptilia BRIP1 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia brip1 34
  • 61.68 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68622 34
zebrafish
(Danio rerio)
Actinopterygii brip1 34 35
  • 62.34 (n)
Dr.15442 34
fruit fly
(Drosophila melanogaster)
Insecta CG4078 36
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea dog-1 36 35
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHL1 35
  • 23 (a)
OneToMany
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

ENSEMBL:
Gene Tree for BRIP1 (if available)
TreeFam:
Gene Tree for BRIP1 (if available)

Paralogs for BRIP1 Gene

Paralogs for BRIP1 Gene

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

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 Sequence Context AA Info Type
rs28903098 Breast cancer (BC) [MIM:114480], Pathogenic 61,859,862(-) AGAGT(A/C/G)CCACA reference, missense
VAR_020900 Breast cancer (BC) [MIM:114480]
VAR_023700 Fanconi anemia complementation group J (FANCJ) [MIM:609054]
VAR_023702 Fanconi anemia complementation group J (FANCJ) [MIM:609054]
VAR_023703 Fanconi anemia complementation group J (FANCJ) [MIM:609054]

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)

Relevant External Links for BRIP1 Gene

Human Gene Mutation Database (HGMD)
BRIP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BRIP1

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

Disorders for BRIP1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
fanconi anemia, complementation group j
  • fanconi anemia complementation group j
breast cancer
  • breast cancer, invasive ductal
familial breast cancer
  • breast cancer, familial
fanconi anemia, complementation group a
  • fanconi's anemia
brip1-related fanconi anemia
- elite association - COSMIC cancer census association via MalaCards
Search BRIP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FANCJ_HUMAN
  • 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}. 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.

Relevant External Links for BRIP1

Genetic Association Database (GAD)
BRIP1
Human Genome Epidemiology (HuGE) Navigator
BRIP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BRIP1
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 S.B. … Livingston D.M. (Cell 2001) 2 3 4 22 64
  2. Mutation analysis of BRIP1/BACH1 in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives. (PMID: 18483852) Cao A.Y. … Shao Z.M. (Breast Cancer Res. Treat. 2009) 3 22 46 64
  3. Polymorphisms in BRCA1, BRCA1-interacting genes and susceptibility of breast cancer in Chinese women. (PMID: 19484476) Huo X. … Tang J. (J. Cancer Res. Clin. Oncol. 2009) 3 22 46 64
  4. Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families. (PMID: 18414782) GuAcnard F. … Durocher F. (J. Hum. Genet. 2008) 3 22 46 64
  5. The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. (PMID: 16116424) Levran O. … Auerbach A.D. (Nat. Genet. 2005) 3 4 22 64

Products for BRIP1 Gene

Sources for BRIP1 Gene

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