BRIP1 |
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PDBに登録されている構造 |
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PDB | オルソログ検索: RCSB PDBe PDBj |
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PDBのIDコード一覧 |
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1T15, 1T29, 3AL3 |
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識別子 |
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記号 | BRIP1, BACH1, FANCJ, OF, BRCA1 interacting protein C-terminal helicase 1, BRCA1 interacting helicase 1 |
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外部ID | OMIM: 605882 MGI: 2442836 HomoloGene: 32766 GeneCards: BRIP1 |
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遺伝子オントロジー |
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分子機能 | • DNA結合 • 4 iron, 4 sulfur cluster binding • ヌクレオチド結合 • helicase activity • iron-sulfur cluster binding • DNA helicase activity • 金属イオン結合 • hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides • 血漿タンパク結合 • 核酸結合 • 加水分解酵素活性 • ATP binding • クロマチン結合
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細胞の構成要素 | • 細胞質 • 核膜 • 核質 • 細胞核
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生物学的プロセス | • regulation of transcription by RNA polymerase II • DNA damage checkpoint signaling • cellular response to DNA damage stimulus • cellular response to vitamin • 核酸塩基を含む化合物の代謝プロセス • negative regulation of cell population proliferation • DNA複製 • DNA duplex unwinding • double-strand break repair • DNA修復 • homologous chromosome pairing at meiosis • 精子形成 • spermatogonial cell division • spermatid development • 男性生殖腺発生 • 毒性物質への反応 • 遺伝子発現の負の調節 • 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 • ヌクレオチド除去修復 • regulation of signal transduction by p53 class mediator
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出典:Amigo / QuickGO |
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オルソログ |
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種 | ヒト | マウス |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (タンパク質) | | |
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場所 (UCSC) | Chr 17: 61.68 – 61.86 Mb | Chr 17: 85.95 – 86.09 Mb |
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PubMed検索 | [3] | [4] |
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ウィキデータ |
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BRIP1(BRCA1-interacting protein 1)もしくはFANCJ(Fanconi anemia group J protein)は、ヒトではBRIP1遺伝子にコードされるタンパク質である[5][6][7]。
機能
BRIP1遺伝子にコードされるBRIP1タンパク質はRecQ(英語版) DEAHヘリカーゼファミリーの一員であり、BRCA1のBRCT(英語版)リピートと相互作用する。結合によって形成された複合体は、BRCA1の正常なDNA二本鎖切断修復機能に重要である。BRIP1遺伝子は、生殖細胞系列におけるがん誘発変異の標的となっている可能性がある[7]。
BRIP1タンパク質は卵巣がんにおいても重要なようであり、がん抑制因子として作用しているようである[8]。BRIP1の変異は卵巣がんのリスクの10–15%と関係している[9]。
BRIP1は、酸化ストレスや興奮毒性によるDNA損傷を抑制し、ミトコンドリアの完全性を保護することで、神経細胞において重要な役割を果たしているようである[10]。BRIP1の欠乏はDNA損傷の増加、ミトコンドリアの異常、神経細胞死を引き起こす。
DNA修復
BRIP1は、相同組換え修復やDNA複製ストレス応答に関与するDNAヘリカーゼである[11]。BRIP1は他の重要なDNA修復タンパク質、具体的にはMLH1、BRCA1、BLM(英語版)との相互作用を介してその機能を果たす[11]。これらのタンパク質は、特に第一減数分裂前期のDNA二本鎖切断を修復することで、ゲノムの安定性の保証に寄与する。
相互作用
BRIPはBRCA1と相互作用することが示されている[12][13][14][15][16][17]。
出典
- ^ 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:
- ^ Mouse PubMed Reference:
- ^ “SUVi and BACH1: a new subfamily of mammalian helicases?”. Mutation Research 487 (1–2): 67–71. (November 2001). doi:10.1016/s0921-8777(01)00104-5. PMID 11595410.
- ^ “BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function”. Cell 105 (1): 149–160. (April 2001). doi:10.1016/S0092-8674(01)00304-X. PMID 11301010.
- ^ a b “Entrez Gene: BRIP1 BRCA1 interacting protein C-terminal helicase 1”. 2023年3月11日閲覧。
- ^ “Mutations in BRIP1 confer high risk of ovarian cancer”. Nature Genetics 43 (11): 1104–1107. (October 2011). doi:10.1038/ng.955. hdl:2336/228034. PMID 21964575.
- ^ “Current and future role of genetic screening in gynecologic malignancies”. American Journal of Obstetrics and Gynecology 217 (5): 512–521. (November 2017). doi:10.1016/j.ajog.2017.04.011. PMID 28411145.
- ^ “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. (2022). doi:10.3233/JAD-215305. PMID 34776453.
- ^ a b “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. (June 2016). doi:10.1007/s00412-015-0549-2. PMC 5415080. PMID 26490168. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5415080/.
- ^ “Structural basis of BACH1 phosphopeptide recognition by BRCA1 tandem BRCT domains”. Structure 12 (7): 1137–1146. (July 2004). doi:10.1016/j.str.2004.06.002. PMC 3652423. PMID 15242590. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652423/.
- ^ “Structure of the 53BP1 BRCT region bound to p53 and its comparison to the Brca1 BRCT structure”. Genes & Development 16 (5): 583–593. (March 2002). doi:10.1101/gad.959202. PMC 155350. PMID 11877378. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC155350/.
- ^ “The BRCT domain is a phospho-protein binding domain”. Science 302 (5645): 639–642. (October 2003). Bibcode: 2003Sci...302..639Y. doi:10.1126/science.1088753. PMID 14576433.
- ^ “Phosphopeptide binding specificities of BRCA1 COOH-terminal (BRCT) domains”. The Journal of Biological Chemistry 278 (52): 52914–52918. (December 2003). doi:10.1074/jbc.C300407200. PMID 14578343.
- ^ “Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer”. Nature Structural & Molecular Biology 11 (6): 512–518. (June 2004). doi:10.1038/nsmb775. PMID 15133502.
- ^ “BRCA1 function mediates a TRAP/DRIP complex through direct interaction with TRAP220”. Oncogene 23 (35): 6000–6005. (August 2004). doi:10.1038/sj.onc.1207786. PMID 15208681.
関連文献
- “A combinatorial code for gene expression generated by transcription factor Bach2 and MAZR (MAZ-related factor) through the BTB/POZ domain”. Molecular and Cellular Biology 20 (5): 1733–1746. (March 2000). doi:10.1128/MCB.20.5.1733-1746.2000. PMC 85356. PMID 10669750. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC85356/.
- “Structure of the 53BP1 BRCT region bound to p53 and its comparison to the Brca1 BRCT structure”. Genes & Development 16 (5): 583–593. (March 2002). doi:10.1101/gad.959202. PMC 155350. PMID 11877378. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC155350/.
- “No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast-cancer families linked to 17q22”. International Journal of Cancer 98 (4): 638–639. (April 2002). doi:10.1002/ijc.10214. PMID 11920628.
- “No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families”. European Journal of Cancer 39 (3): 366–371. (February 2003). doi:10.1016/S0959-8049(02)00498-7. PMID 12565990.
- “Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals”. Human Mutation 22 (2): 121–128. (August 2003). doi:10.1002/humu.10238. PMID 12872252.
- “Cadmium induces nuclear export of Bach1, a transcriptional repressor of heme oxygenase-1 gene”. The Journal of Biological Chemistry 278 (49): 49246–49253. (December 2003). doi:10.1074/jbc.M306764200. PMID 14504288.
- “The BRCT domain is a phospho-protein binding domain”. Science 302 (5645): 639–642. (October 2003). Bibcode: 2003Sci...302..639Y. doi:10.1126/science.1088753. PMID 14576433.
- “Phosphopeptide binding specificities of BRCA1 COOH-terminal (BRCT) domains”. The Journal of Biological Chemistry 278 (52): 52914–52918. (December 2003). doi:10.1074/jbc.C300407200. PMID 14578343.
- “The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations”. Proceedings of the National Academy of Sciences of the United States of America 101 (8): 2357–2362. (February 2004). Bibcode: 2004PNAS..101.2357C. doi:10.1073/pnas.0308717101. PMC 356955. PMID 14983014. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC356955/.
- “Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling”. Molecular Cell 14 (3): 405–412. (May 2004). doi:10.1016/S1097-2765(04)00238-2. PMID 15125843.
- “Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer”. Nature Structural & Molecular Biology 11 (6): 512–518. (June 2004). doi:10.1038/nsmb775. PMID 15133502.
- “BRCA1 function mediates a TRAP/DRIP complex through direct interaction with TRAP220”. Oncogene 23 (35): 6000–6005. (August 2004). doi:10.1038/sj.onc.1207786. PMID 15208681.
- “Structural basis of BACH1 phosphopeptide recognition by BRCA1 tandem BRCT domains”. Structure 12 (7): 1137–1146. (July 2004). doi:10.1016/j.str.2004.06.002. PMC 3652423. PMID 15242590. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652423/.
- “Analysis of the DNA substrate specificity of the human BACH1 helicase associated with breast cancer”. The Journal of Biological Chemistry 280 (27): 25450–25460. (July 2005). doi:10.1074/jbc.M501995200. PMID 15878853.
外部リンク
- 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.