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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)
End	61,863,559 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	86,092,019 bp
RNA expression pattern
	Top expressed in
	ventricular zone; ; gonad; ; testicle; ; secondary oocyte; ; ganglionic eminence; ; stromal cell of endometrium; ; bone marrow; ; bone marrow cells; ; 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
	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
	83990
	237911
	ENSG00000136492
	ENSMUSG00000034329
	Q9BX63
	Q5SXJ3
	NM_032043
	NM_178309
	NP_114432
	NP_840094
	Wikidata
View/Edit Human	View/Edit Mouse

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

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000136492 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034329 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Menichini P, Linial M (November 2001). "SUVi and BACH1: a new subfamily of mammalian helicases?". Mutation Research. 487 (1–2): 67–71. doi:10.1016/s0921-8777(01)00104-5. PMID 11595410.
^ Cantor SB, Bell DW, Ganesan S, Kass EM, Drapkin R, Grossman S, et al. (April 2001). "BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function". Cell. 105 (1): 149–160. doi:10.1016/S0092-8674(01)00304-X. PMID 11301010. S2CID 15966253.
^ ^a ^b "Entrez Gene: BRIP1 BRCA1 interacting protein C-terminal helicase 1".
^ Rafnar T, Gudbjartsson DF, Sulem P, Jonasdottir A, Sigurdsson A, Jonasdottir A, et al. (October 2011). "Mutations in BRIP1 confer high risk of ovarian cancer". Nature Genetics. 43 (11): 1104–1107. doi:10.1038/ng.955. hdl:2336/228034. PMID 21964575. S2CID 24535565.
^ Ring KL, Garcia C, Thomas MH, Modesitt SC (November 2017). "Current and future role of genetic screening in gynecologic malignancies". American Journal of Obstetrics and Gynecology. 217 (5): 512–521. doi:10.1016/j.ajog.2017.04.011. PMID 28411145. S2CID 29024566.
^ Mani C, Acharya G, Kshirsagar S, Vijayan M, Khan H, Reddy PH, Palle K (2022). "A Novel Role for BRIP1/FANCJ in Neuronal Cells Health and in Resolving Oxidative Stress-Induced DNA Lesions". Journal of Alzheimer's Disease. 85 (1): 207–221. doi:10.3233/JAD-215305. PMID 34776453. S2CID 244078679.
^ ^a ^b Sun X, Brieño-Enríquez MA, Cornelius A, Modzelewski AJ, Maley TT, Campbell-Peterson KM, et al. (June 2016). "FancJ (Brip1) loss-of-function allele results in spermatogonial cell depletion during embryogenesis and altered processing of crossover sites during meiotic prophase I in mice". Chromosoma. 125 (2): 237–252. doi:10.1007/s00412-015-0549-2. PMC 5415080. PMID 26490168.
^ ^a ^b Horan TS, Ascenção CF, Mellor CA, Wang M, Smolka MB, Cohen PE (October 2023). "The DNA helicase FANCJ (BRIP1) functions in Double Strand Break repair processing, but not crossover formation during Prophase I of meiosis in male mice". bioRxiv. doi:10.1101/2023.10.06.561296. PMC 10592954. PMID 37873301.
^ Botuyan MV, Nominé Y, Yu X, Juranic N, Macura S, Chen J, Mer G (July 2004). "Structural basis of BACH1 phosphopeptide recognition by BRCA1 tandem BRCT domains". Structure. 12 (7): 1137–1146. doi:10.1016/j.str.2004.06.002. PMC 3652423. PMID 15242590.
^ Joo WS, Jeffrey PD, Cantor SB, Finnin MS, Livingston DM, Pavletich NP (March 2002). "Structure of the 53BP1 BRCT region bound to p53 and its comparison to the Brca1 BRCT structure". Genes & Development. 16 (5): 583–593. doi:10.1101/gad.959202. PMC 155350. PMID 11877378.
^ Yu X, Chini CC, He M, Mer G, Chen J (October 2003). "The BRCT domain is a phospho-protein binding domain". Science. 302 (5645): 639–642. Bibcode:2003Sci...302..639Y. doi:10.1126/science.1088753. PMID 14576433. S2CID 29407635.
^ Rodriguez M, Yu X, Chen J, Songyang Z (December 2003). "Phosphopeptide binding specificities of BRCA1 COOH-terminal (BRCT) domains". The Journal of Biological Chemistry. 278 (52): 52914–52918. doi:10.1074/jbc.C300407200. PMID 14578343.
^ Clapperton JA, Manke IA, Lowery DM, Ho T, Haire LF, Yaffe MB, Smerdon SJ (June 2004). "Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer". Nature Structural & Molecular Biology. 11 (6): 512–518. doi:10.1038/nsmb775. PMID 15133502. S2CID 7354915.

External links

Human BACH1 genome location and BACH1 gene details page in the UCSC Genome Browser.
Human BRIP1 genome location and BRIP1 gene details page in the UCSC Genome Browser.