ID:FANCJ_HUMAN DESCRIPTION: RecName: Full=Fanconi anemia group J protein; Short=Protein FACJ; EC=3.6.4.13; AltName: Full=ATP-dependent RNA helicase BRIP1; AltName: Full=BRCA1-associated C-terminal helicase 1; AltName: Full=BRCA1-interacting protein C-terminal helicase 1; Short=BRCA1-interacting protein 1; 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. CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate. COFACTOR: Binds 1 4Fe-4S cluster. SUBUNIT: Binds directly to the BRCT domains of BRCA1. INTERACTION: P38398:BRCA1; NbExp=3; IntAct=EBI-3509650, EBI-349905; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in testis. DOMAIN: 4Fe-4S iron-sulfur-binding is required for helicase activity (PubMed:20639400). PTM: Phosphorylated. Phosphorylation is necessary for interaction with BRCA1, and is cell-cycle regulated. DISEASE: Defects in BRIP1 are a cause of susceptibility to 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. DISEASE: Defects in BRIP1 are the cause of Fanconi anemia complementation group J (FANCJ) [MIM:609054]. It is 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. SIMILARITY: Belongs to the DEAD box helicase family. DEAH subfamily. SIMILARITY: Contains 1 helicase ATP-binding domain. SEQUENCE CAUTION: Sequence=BAC11156.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=Fanconi Anemia Mutation Database; URL="http://www.rockefeller.edu/fanconi/mutate/jumpj.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BRIP1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BX63
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000077 DNA damage checkpoint GO:0006139 nucleobase-containing compound metabolic process GO:0006260 DNA replication GO:0006281 DNA repair GO:0006302 double-strand break repair GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006974 cellular response to DNA damage stimulus GO:0007129 synapsis GO:0007283 spermatogenesis GO:0007284 spermatogonial cell division GO:0007286 spermatid development GO:0008285 negative regulation of cell proliferation GO:0008584 male gonad development GO:0009636 response to toxic substance GO:0010629 negative regulation of gene expression GO:0010705 meiotic DNA double-strand break processing involved in reciprocal meiotic recombination GO:0032508 DNA duplex unwinding GO:0051026 chiasma assembly GO:0071295 cellular response to vitamin GO:0071456 cellular response to hypoxia GO:0072520 seminiferous tubule development GO:1904385 cellular response to angiotensin GO:1990918 double-strand break repair involved in meiotic recombination
AF360549 - Homo sapiens BRCA1-binding helicase-like protein BACH1 mRNA, complete cds. BC101472 - Homo sapiens BRCA1 interacting protein C-terminal helicase 1, mRNA (cDNA clone MGC:126521 IMAGE:8068978), complete cds. BC101474 - Homo sapiens BRCA1 interacting protein C-terminal helicase 1, mRNA (cDNA clone MGC:126523 IMAGE:8068980), complete cds. HQ258538 - Synthetic construct Homo sapiens clone IMAGE:100072967 BRCA1 interacting protein C-terminal helicase 1 (BRIP1) gene, encodes complete protein. KJ899749 - Synthetic construct Homo sapiens clone ccsbBroadEn_09143 BRIP1 gene, encodes complete protein. KR711727 - Synthetic construct Homo sapiens clone CCSBHm_00028903 BRIP1 (BRIP1) mRNA, encodes complete protein. KR711728 - Synthetic construct Homo sapiens clone CCSBHm_00028906 BRIP1 (BRIP1) mRNA, encodes complete protein. KR711729 - Synthetic construct Homo sapiens clone CCSBHm_00028909 BRIP1 (BRIP1) mRNA, encodes complete protein. KR711730 - Synthetic construct Homo sapiens clone CCSBHm_00028911 BRIP1 (BRIP1) mRNA, encodes complete protein. AK074713 - Homo sapiens cDNA FLJ90232 fis, clone NT2RM2000497, weakly similar to CHL1 PROTEIN. JD507310 - Sequence 488334 from Patent EP1572962. JD522452 - Sequence 503476 from Patent EP1572962. JD474202 - Sequence 455226 from Patent EP1572962. JD521097 - Sequence 502121 from Patent EP1572962. JD120101 - Sequence 101125 from Patent EP1572962. JD098784 - Sequence 79808 from Patent EP1572962. JD334329 - Sequence 315353 from Patent EP1572962. JD374322 - Sequence 355346 from Patent EP1572962. JD506258 - Sequence 487282 from Patent EP1572962. JD356559 - Sequence 337583 from Patent EP1572962. JD460234 - Sequence 441258 from Patent EP1572962. JD422621 - Sequence 403645 from Patent EP1572962. JD416493 - Sequence 397517 from Patent EP1572962. JD193078 - Sequence 174102 from Patent EP1572962. JD365029 - Sequence 346053 from Patent EP1572962. JD307280 - Sequence 288304 from Patent EP1572962. JD095406 - Sequence 76430 from Patent EP1572962. JD213175 - Sequence 194199 from Patent EP1572962. JD217962 - Sequence 198986 from Patent EP1572962. JD278414 - Sequence 259438 from Patent EP1572962. JD059606 - Sequence 40630 from Patent EP1572962. JD527066 - Sequence 508090 from Patent EP1572962. JD152736 - Sequence 133760 from Patent EP1572962. JD063912 - Sequence 44936 from Patent EP1572962. JD063911 - Sequence 44935 from Patent EP1572962. JD265932 - Sequence 246956 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9BX63 (Reactome details) participates in the following event(s):
R-HSA-5685985 EXO1 or DNA2 in complex with BLM or WRN binds initially resected DNA DSBs along with BRIP1 recruitment R-HSA-5686410 BLM mediates dissolution of double Holliday junction R-HSA-5686657 ERCC1:XPF cleaves flaps generated by SSA R-HSA-5693589 D-loop dissociation and strand annealing R-HSA-5693542 Association of RPA complexes with ssDNA at resected DNA DSBs R-HSA-5685994 Long-range resection of DNA DSBs by EXO1 or DNA2 R-HSA-5684887 Activation of CHEK1 at resected DNA DSBs R-HSA-5684882 CHEK1 is recruited to resected DNA DSBs R-HSA-5693561 RAD51 binds BRCA2 at resected DNA DSBs R-HSA-5693580 Association of RAD52 with the RPA complex at resected DNA DSBs R-HSA-5685156 ATR phosphorylates RPA2 R-HSA-5685341 BCDX2 complex stabilizes RAD51 filament R-HSA-5685838 CX3 complex binds D-loop structures R-HSA-5693620 D-loop formation mediated by PALB2, BRCA2 and RAD51 R-HSA-5684875 Binding of ATR:ATRIP to RPA at resected DNA DSBs R-HSA-5693564 Association of RAD51 with RAD52:DNA double-strand break ends R-HSA-5693593 D-loop extension by DNA polymerases R-HSA-5693584 Cleavage of Holliday junctions by GEN1 or SLX1A:SLX4:MUS81:EME1,(MUS81:EME2) R-HSA-5686440 MUS81:EME1,EME2 cleaves D-loop R-HSA-5685011 ATR activation at DNA DSBs R-HSA-5686642 RAD52 promotes single strand annealing at resected DNA DSBs R-HSA-6799332 ATR phosphorylates TP53 R-HSA-5693607 Processing of DNA double-strand break ends R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates R-HSA-5685938 HDR through Single Strand Annealing (SSA) R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) R-HSA-2564830 Cytosolic iron-sulfur cluster assembly R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange R-HSA-5693579 Homologous DNA Pairing and Strand Exchange R-HSA-5693567 HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) R-HSA-5693537 Resolution of D-Loop Structures R-HSA-1430728 Metabolism R-HSA-5685942 HDR through Homologous Recombination (HRR) R-HSA-5693538 Homology Directed Repair R-HSA-5693532 DNA Double-Strand Break Repair R-HSA-73894 DNA Repair R-HSA-69473 G2/M DNA damage checkpoint R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation R-HSA-69481 G2/M Checkpoints R-HSA-5633007 Regulation of TP53 Activity R-HSA-69620 Cell Cycle Checkpoints R-HSA-3700989 Transcriptional Regulation by TP53 R-HSA-1640170 Cell Cycle R-HSA-212436 Generic Transcription Pathway R-HSA-73857 RNA Polymerase II Transcription R-HSA-74160 Gene expression (Transcription)
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
