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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.
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Tissue specificity
Ubiquitously expressed, with highest levels in testis.
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Involvement in 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.
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.
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Sequence similarities
Belongs to the DEAD box helicase family. DEAH subfamily.
Contains 1 helicase ATP-binding domain.
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Domain
4Fe-4S iron-sulfur-binding is required for helicase activity (PubMed:20639400).
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Post-translational
modifications
Phosphorylated. Phosphorylation is necessary for interaction with BRCA1, and is cell-cycle regulated.
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Cellular localization
Nucleus.
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Information by UniProt
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Database links
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Alternative names
- ATP dependent RNA helicase BRIP1 antibody
- ATP-dependent RNA helicase BRIP1 antibody
- BACH 1 antibody
- BRAC 1 Associated C Terminal Helicase 1 antibody
- BRCA 1 Interacting Protein 1 antibody
- BRCA1 binding helicase like protein BACH1 antibody
- BRCA1 interacting protein C terminal helicase 1 antibody
- BRCA1-associated C-terminal helicase 1 antibody
- BRCA1-interacting protein 1 antibody
- BRCA1-interacting protein C-terminal helicase 1 antibody
- BRCA1/BRCA2 associated helicase 1 antibody
- BRIP 1 antibody
- BRIP1 antibody
- FANCJ antibody
- FANCJ_HUMAN antibody
- Fanconi anemia group J protein antibody
- FLJ90232 antibody
- MGC126521 antibody
- MGC126523 antibody
- OF antibody
- Protein FACJ antibody
see all