The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 0.1 - 1 µg/ml. Predicted molecular weight: 150 kDa.
Use a concentration of 1 - 10 µg/ml.
Use a concentration of 10 - 20 µg/ml.
機能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.
組織特異性Ubiquitously expressed, with highest levels in testis.
関連疾患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.
配列類似性Belongs to the DEAD box helicase family. DEAH subfamily. Contains 1 helicase ATP-binding domain.
ドメイン4Fe-4S iron-sulfur-binding is required for helicase activity (PubMed:20639400).
翻訳後修飾Phosphorylated. Phosphorylation is necessary for interaction with BRCA1, and is cell-cycle regulated.