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BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) is a gene situated on chromosome 17q22, covering 19 exons within its 184-kb coding region to encode a protein containing 1249 amino acids. BRIP1 is integral to the DNA repair processes, specifically through its interaction with the BRCA1 gene, and is involved in the Fanconi anemia complementation group J (FANC J). Mutations in BRIP1 have been identified, playing a role in cancer predisposition with a notable eightfold increased risk for ovarian cancer and associations with cervical cancer risk through its single nucleotide polymorphisms (SNPs). Amplifications and other mutations of BRIP1 are prevalent in a variety of cancers, and its expression involves significant correlations with copy number variations (CNV) and DNA methylation across numerous tumor types. BRIP1's expression is upregulated in certain contexts, which can contribute to cancer progression, as evidenced in the Omani population with breast cancer. These interactions validate its association with DNA damage repair, cell cycle, and metabolism across multiple cancer types.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: ATP-dependent RNA helicase BRIP1; BACH 1; BACH1 BRIP1; BRCA1-associated C-terminal helicase 1; BRCA1-binding helicase-like protein BACH1; BRCA1-interacting protein 1; BRCA1-interacting protein C-terminal helicase 1; BRCA1/BRCA2-associated helicase 1; BRIP 1; DNA 5'-3' helicase FANCJ; FANCJ protein; Fanconi anemia group J protein; FLJ90232; MGC126521; MGC126523
基因别名: BACH1; BRIP1; FANCJ; OF
UniProt ID: (Human) Q9BX63
Entrez Gene ID: (Human) 83990