BRCA1

乳腺癌一號基因（BRCA1）是一種蛋白質，由在人體中編碼為BRCA1的基因組成^[6]，BRCA1是人類腫瘤抑制基因，負責修復DNA。

BRCA1
已知的結構 PDB 直系同源搜尋: PDBe RCSB PDBID列表 1JM7、​1JNX、​1N5O、​1OQA、​1T15、​1T29、​1T2U、​1T2V、​1Y98、​2ING、​3COJ、​3K0H、​3K0K、​3K15、​3PXA、​3PXB、​3PXC、​3PXD、​3PXE、​4IFI、​4IGK、​4JLU、​4OFB、​4U4A、​4Y18、​4Y2G
識別號
別名	BRCA1；, breast cancer 1, early onset, BRCAI, BRCC1, BROVCA1, IRIS, PNCA4, PPP1R53, PSCP, RNF53, FANCS, breast cancer 1, DNA repair associated, BRCA1 DNA repair associated, Genes
外部ID	OMIM：113705 MGI：104537 HomoloGene：5276 GeneCards：BRCA1
相關疾病
BRCA1 hereditary breast and ovarian cancer syndrome、​breast carcinoma、​泌尿生殖腫瘤、​卵巢腫瘤、​hereditary breast ovarian cancer[1]
基因位置（人類） 染色體 17號染色體[2] 基因座 17q21.31 起始 43,044,295 bp[2] 終止 43,170,245 bp[2]
基因位置（小鼠） 染色體 小鼠11號染色體[3] 基因座 11 65.18 cM|11 D 起始 101,379,590 bp[3] 終止 101,442,781 bp[3]
RNA表達模式
查閱更多表達數據
基因本體 分子功能 • tubulin binding • 金屬離子結合 • 酶結合 • 鋅離子結合 • damaged DNA binding • 血漿蛋白結合 • 轉錄共活化因子活性 • 雄激素受體結合 • RNA binding • 泛素蛋白連接酶結合 • 泛素蛋白轉移酶活性 • DNA結合 • 轉移酶活性 • RNA polymerase binding • 相同蛋白質結合 細胞組分 • BRCA1-BARD1 complex • condensed nuclear chromosome • BRCA1-A complex • ubiquitin ligase complex • 細胞膜 • 核質 • condensed chromosome • 細胞質 • 染色體 • 細胞核 • lateral element • 大分子複合體 • 核糖核蛋白 生物學過程 • response to ionizing radiation • centrosome cycle • 染色體分離 • protein K6-linked ubiquitination • intrinsic apoptotic signaling pathway in response to DNA damage • 細胞週期 • double-strand break repair via nonhomologous end joining • 細胞凋亡 • regulation of apoptotic process • regulation of gene expression by genetic imprinting • regulation of transcription, DNA-templated • negative regulation of fatty acid biosynthetic process • transcription, DNA-templated • regulation of transcription by RNA polymerase III • fatty acid biosynthetic process • regulation of DNA methylation • negative regulation of intracellular estrogen receptor signaling pathway • protein autoubiquitination • positive regulation of histone H3-K9 methylation • DNA重組 • positive regulation of angiogenesis • response to estrogen • cellular response to indole-3-methanol • 死亡域受體對外源性凋亡信號通路的負調控 • negative regulation of transcription, DNA-templated • positive regulation of protein ubiquitination • androgen receptor signaling pathway • negative regulation of centriole replication • postreplication repair • 脂質代謝 • cellular response to tumor necrosis factor • positive regulation of DNA repair • 脂肪酸代謝 • positive regulation of gene expression • negative regulation of histone H3-K4 methylation • regulation of cell population proliferation • negative regulation of reactive oxygen species metabolic process • positive regulation of vascular endothelial growth factor production • DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator • positive regulation of transcription by RNA polymerase II • positive regulation of histone H4-K20 methylation • DNA double-strand break processing • double-strand break repair via homologous recombination • negative regulation of histone acetylation • protein ubiquitination • positive regulation of histone H3-K4 methylation • DNA修復 • double-strand break repair • positive regulation of histone acetylation • dosage compensation by inactivation of X chromosome • negative regulation of histone H3-K9 methylation • positive regulation of histone H3-K9 acetylation • positive regulation of transcription, DNA-templated • chordate embryonic development • positive regulation of histone H4-K16 acetylation • cellular response to DNA damage stimulus • protein deubiquitination • 脫氧核糖核酸複製 • mitotic G2/M transition checkpoint • regulation of transcription by RNA polymerase II • negative regulation of G0 to G1 transition • transcription by RNA polymerase II • mitotic G2 DNA damage checkpoint signaling • regulation of signal transduction by p53 class mediator Sources:Amigo / QuickGO
直系同源
物種	人類	小鼠
Entrez	672	12189
Ensembl	ENSG00000012048	ENSMUSG00000017146
UniProt	P38398	P48754
mRNA​序列	​NM_007294 ​NM_007295 ​NM_007296 ​NM_007297 ​NM_007298 ​NM_007299 ​NM_007300 ​NM_007301 ​NM_007302 ​NM_007303 ​NM_007305 ​NM_007306	NM_009764
蛋白序列	NP_009225 ​NP_009228 ​NP_009229 ​NP_009230 ​NP_009231	NP_033894
基因位置​（UCSC）	Chr 17: 43.04 – 43.17 Mb	Chr 11: 101.38 – 101.44 Mb
PubMed​查找	[4]	[5]
維基數據
檢視/編輯人類 檢視/編輯小鼠

BRCA1與BRCA2是兩種不相關的蛋白質^[7]，但通常都在乳房與其他細胞組織中出現。它們可幫助修復DNA，也可在無法修復DNA的情況下破壞細胞。它們參與染色體損傷的修復，在DNA雙鏈斷裂的無錯修復中起着重要作用^[8]。如果BRCA1或BRCA2本身因BRCA突變而受損，則受損的DNA無法正確修復，這會增加患乳腺癌的風險^[8]。BRCA1和BRCA2被描述為「乳腺癌易感基因」和「乳腺癌易感蛋白」。主要的等位基因具有正常的腫瘤抑制功能，而這些基因中的高滲透性突變會導致腫瘤抑制功能的喪失，這與患乳腺癌的風險增加相關^[9]。

發現

1990年，加州大學伯克利分校的瑪麗·克萊爾·金（Mary-Claire King）實驗室提供了第一個證據，證明存在編碼與乳腺癌易感性有關的DNA修復酶的基因。 四年後，經過一場國際合作，人們發現了該基因，該基因是由美國猶他大學，國家環境健康科學研究所（NIEHS）和Myriad Genetics於1994年發現的。

參考文獻

1. 與BRCA1相關的疾病；在維基數據上查看/編輯參考.
2. GRCh38: Ensembl release 89: ENSG00000012048 - Ensembl, May 2017
3. GRCm38: Ensembl release 89: ENSMUSG00000017146 - Ensembl, May 2017
4. Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
6. HealthCentral. Retrieved 2010-07-02.. [2021-05-12]. （原始內容存檔於2021-01-25）.
7. Irminger-Finger, Irmgard; Ratajska, Magda; Pilyugin, Maxim. New concepts on BARD1: Regulator of BRCA pathways and beyond. The International Journal of Biochemistry & Cell Biology. 2016-03, 72: 1–17 [2021-05-27]. doi:10.1016/j.biocel.2015.12.008. （原始內容存檔於2018-06-22） （英語）.
8. Friedenson, Bernard. The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers. BMC Cancer. 2007-08-06, 7: 152 [2021-05-12]. ISSN 1471-2407. PMC 1959234 . PMID 17683622. doi:10.1186/1471-2407-7-152. （原始內容存檔於2019-12-16）.
9. O'Donovan, Peter J.; Livingston, David M. BRCA1 and BRCA2: breast/ovarian cancer susceptibility gene products and participants in DNA double-strand break repair. Carcinogenesis. 2010-06, 31 (6): 961–967 [2021-05-12]. ISSN 1460-2180. PMID 20400477. doi:10.1093/carcin/bgq069. （原始內容存檔於2021-05-13）.

外部連結

• 醫學主題詞表（MeSH）：BRCA1 Protein
• 醫學主題詞表（MeSH）：Genes, BRCA1
• PDBe-KB （頁面存檔備份，存於互聯網檔案館） provides an overview of all the structure information available in the PDB for Human BRCA1.