Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83990
Gene name Gene Name - the full gene name approved by the HGNC.
BRCA1 interacting DNA helicase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BRIP1
Synonyms (NCBI Gene) Gene synonyms aliases
BACH1, FANCJ, OF
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q23.2
Summary Summary of gene provided in NCBI Entrez 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 (
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs4988349 T>A Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, genic upstream transcript variant
rs4988356 A>C Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity Coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs28903098 G>C,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Genic upstream transcript variant, missense variant, coding sequence variant
rs28997571 G>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Upstream transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs45437094 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Genic downstream transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024519 hsa-miR-215-5p Microarray 19074876
MIRT026770 hsa-miR-192-5p Microarray 19074876
MIRT047176 hsa-miR-182-5p CLASH 23622248
MIRT043978 hsa-miR-378a-5p CLASH 23622248
MIRT824672 hsa-let-7a CLIP-seq
Transcription factors
Transcription factor Regulation Reference
FOXM1 Unknown 23108394
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000077 Process DNA damage checkpoint signaling NAS 14576433
GO:0000166 Function Nucleotide binding IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding NAS 15878853
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605882 20473 ENSG00000136492
Protein
UniProt ID Q9BX63
Protein name Fanconi anemia group J protein (EC 5.6.2.3) (BRCA1-associated C-terminal helicase 1) (BRCA1-interacting protein C-terminal helicase 1) (BRCA1-interacting protein 1) (DNA 5'-3' helicase FANCJ)
Protein function DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of chromosomal stability (PubMed:11301010, PubMed:14983014, PubMed:16116421, PubMed:16153896, PubMed:17596542, PubMed:36608669). Acts late in the Fanconi anemia pathway, af
PDB 1T15 , 1T29 , 3AL3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06733 DEAD_2 248 415 DEAD_2 Family
PF13307 Helicase_C_2 680 867 Helicase C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in testis. {ECO:0000269|PubMed:11301010}.
Sequence
MSSMWSEYTIGGVKIYFPYKAYPSQLAMMNSILRGLNSKQHCLLESPTGSGKSLALLCSA
LAWQQSLSGKPADEGVSEKAEVQLSCCCACHSKDFTNNDMNQGTSRHFNYPSTPPSERNG
TSSTCQDSPEKTTLAAKLSAKKQASIYRDENDDFQVEKKRIRPLETTQQIRKRHCFGTEV
HNLDAKVDSGKTVKLNSPLEKINSFSPQKPPGHCSRCCCSTKQGNSQESSNTIKKDHTGK
SKIPKIYFGTRTHKQIAQITRELRRTAYSGVPMTILSSRDHTCVHPEVVGNFNRNEKCME
LLDGKNGKSCYFYHGVHKISDQHTLQTFQGMCKAWDIEELVSLGKKLKACPYYTARELIQ
DADIIFCPYNYLLDAQIRESMDLNLKEQVVILDEAHNIEDCARESASYSVTEVQL
RFARD
ELDSMVNNNIRKKDHEPLRAVCCSLINWLEANAEYLVERDYESACKIWSGNEMLLTLHKM
GITTATFPILQGHFSAVLQKEEKISPIYGKEEAREVPVISASTQIMLKGLFMVLDYLFRQ
NSRFADDYKIAIQQTYSWTNQIDISDKNGLLVLPKNKKRSRQKTAVHVLNFWCLNPAVAF
SDINGKVQTIVLTSGTLSPMKSFSSELGVTFTIQLEANHIIKNSQVWVGTIGSGPKGRNL
CATFQNTETFEFQDEVGALLLSVCQTVSQGILCFLPSYKLLEKLKERWLSTGLWHNLELV
KTVIVEPQGGEKTNFDELLQVYYDAIKYKGEKDGALLVAVCRGKVSEGLDFSDDNARAVI
TIGIPFPNVKDLQVELKRQYNDHHSKLRGLLPGRQWYEIQAYRALNQALGRCIRHRNDWG
ALILVDDRFRNNPSRYISGLSKWVRQQ
IQHHSTFESALESLAEFSKKHQKVLNVSIKDRT
NIQDNESTLEVTSLKYSTSPYLLEAASHLSPENFVEDEAKICVQELQCPKIITKNSPLPS
SIISRKEKNDPVFLEEAGKAEKIVISRSTSPTFNKQTKRVSWSSFNSLGQYFTGKIPKAT
PELGSSENSASSPPRFKTEKMESKTVLPFTDKCESSNLTVNTSFGSCPQSETIISSLKID
ATLTRKNHSEHPLCSEEALDPDIELSLVSEEDKQSTSNRDFETEAEDESIYFTPELYDPE
DTDEEKNDLAETDRGNRLANNSDCILAKDLFEIRTIKEVDSAREVKAEDCIDTKLNGILH
IEESKIDDIDGNVKTTWINELELGKTHEIEIKNFKPSPSKNKGMFPGFK
Sequence length 1249
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Homologous recombination
Fanconi anemia pathway
  HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Breast Cancer Malignant tumor of breast rs1555607022, rs760551339, rs774684620, rs1603293306, rs1603275367, rs587780240, rs1064793887 N/A
Breast Carcinoma breast carcinoma rs774684620, rs1257401983 N/A
Fanconi Anemia Fanconi anemia complementation group J, fanconi anemia, Fanconi anemia complementation group D2 rs775537066, rs775735278, rs137852986, rs876660203, rs780020495, rs368796923, rs1555591308, rs747604569, rs149364097, rs587781985, rs1028347439, rs587780224, rs574552037, rs763009188, rs760551339
View all (21 more)
N/A
Ovarian cancer Familial ovarian cancer rs752411477, rs1555591361, rs587780226, rs786202125, rs730881647, rs753023295 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Adenoma colorectal adenoma N/A N/A GenCC
Cervical Cancer cervical cancer N/A N/A ClinVar
hereditary cancer Hereditary cancer N/A N/A ClinVar
neoplasm Neoplasm N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36907870
Anemia Associate 38452035
Anemia Hemolytic Associate 26921362
Anus Imperforate Associate 33028645
Bloom Syndrome Associate 22024395
Brain Neoplasms Associate 29287594
Breast Diseases Associate 34261476
Breast Neoplasms Associate 15113441, 16430786, 17292821, 17342202, 17596542, 17697391, 18628483, 19127258, 19150983, 19419957, 19935797, 20512659, 21356067, 21799032, 22383991
View all (39 more)
Breast Neoplasms Inhibit 20173781
Breast Neoplasms Stimulate 32888398