BRIP1

Fanconi anemia group J protein is a protein that in humans is encoded by the BRCA1-interacting protein 1 (BRIP1) gene.^[5][6][7]

BRIP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1T15, 1T29, 3AL3
Identifiers
Aliases	BRIP1, BACH1, FANCJ, OF, BRCA1 interacting protein C-terminal helicase 1, BRCA1 interacting helicase 1
External IDs	OMIM: 605882; MGI: 2442836; HomoloGene: 32766; GeneCards: BRIP1; OMA:BRIP1 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q23.2 Start 61,679,139 bp[1] End 61,863,559 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 C Start 85,948,964 bp[2] End 86,092,019 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone gonad testicle secondary oocyte ganglionic eminence stromal cell of endometrium bone marrow bone marrow cell trabecular bone left testis Top expressed in zygote primary oocyte genital tubercle tail of embryo secondary oocyte yolk sac morula gray matter layer of cerebellum ventricular zone spermatid More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding 4 iron, 4 sulfur cluster binding nucleotide binding helicase activity iron-sulfur cluster binding DNA helicase activity metal ion binding hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides protein binding nucleic acid binding hydrolase activity ATP binding chromatin binding Cellular component cytoplasm nuclear membrane nucleoplasm nucleus Biological process regulation of transcription by RNA polymerase II DNA damage checkpoint signaling cellular response to DNA damage stimulus cellular response to vitamin nucleobase-containing compound metabolic process negative regulation of cell population proliferation DNA replication DNA duplex unwinding double-strand break repair DNA repair homologous chromosome pairing at meiosis spermatogenesis spermatogonial cell division spermatid development male gonad development response to toxic substance negative regulation of gene expression meiotic DNA double-strand break processing involved in reciprocal meiotic recombination chiasma assembly cellular response to hypoxia seminiferous tubule development cellular response to angiotensin double-strand break repair involved in meiotic recombination nucleotide-excision repair regulation of signal transduction by p53 class mediator Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 83990 237911 Ensembl ENSG00000136492 ENSMUSG00000034329 UniProt Q9BX63 Q5SXJ3 RefSeq (mRNA) NM_032043 NM_178309 RefSeq (protein) NP_114432 NP_840094 Location (UCSC) Chr 17: 61.68 – 61.86 Mb Chr 11: 85.95 – 86.09 Mb PubMed search [3] [4]
Wikidata
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Function

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 (BRCA1). This gene may be a target of germline cancer-inducing mutations.^[7]

This protein also appears to be important in ovarian cancer where it seems to act as a tumor suppressor.^[8] Mutations in BRIP1 are associated with a 10-15% risk of ovarian cancer.^[9]

BRIP1 appears to have an important role in neuronal cells by suppressing oxidative stress, excitotoxicity induced DNA damage, and in protecting the integrity of mitochondria.^[10] A deficiency of BRIP1 causes increased DNA damage, mitochondrial abnormalities and neuronal cell death.

DNA repair

BRIP1 protein is a DNA helicase that is employed in homologous recombinational repair, and in the response of the cell to DNA replication stress.^[11] In part, BRIP1 carries out its function through interaction with other key DNA repair proteins, specifically MLH1, BRCA1 and BLM.^[11] This group of proteins helps to ensuring genome stability, and in particular repairs DNA double-strand breaks during prophase 1 of meiosis.

Meiosis

During prophase I of meiosis in male mice, BRIP1 functions in the repair of DNA double-strand breaks, but does not appear to have a role in the formation of chromosomal crossovers.^[12] BRIP1 co-localizes with TOPBP1 scaffold protein and the BRCA1 repair protein along chromosome cores starting early in meiotic prophase I forming discrete foci, and is also densely localized to the axes of unsynapsed chromosomes during the late zygonema (zygotene) stage of meiosis.^[12]

Interactions

BRIP1 has been shown to interact with BRCA1.^{[13][14][15][16][17]}