BRCA1

乳腺癌一号基因（BRCA1）是一种蛋白质，由在人体中编码为BRCA1的基因组成^[6]，BRCA1是人类肿瘤抑制基因，负责修复DNA。

BRCA1
已知的结构 PDB 直系同源搜索: 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
识别号
别名	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
相关疾病
BRCA1 hereditary breast and ovarian cancer syndrome、​breast carcinoma、​泌尿生殖肿瘤、​卵巢肿瘤、​hereditary breast ovarian cancer[1]
基因位置（人类） 染色体 17号染色体[2] 基因座 17q21.31 起始 43,044,295 bp[2] 终止 43,170,245 bp[2]
基因位置（小鼠） 染色体 小鼠11号染色体[3] 基因座 11 65.18 cM|11 D 起始 101,379,590 bp[3] 终止 101,442,781 bp[3]
RNA表达模式
查阅更多表达数据
基因本体 分子功能 • tubulin binding • 金属离子结合 • 酶结合 • 锌离子结合 • damaged DNA binding • 血浆蛋白结合 • 转录共激活因子活性 • 雄激素受体结合 • RNA binding • 泛素蛋白连接酶结合 • 泛素蛋白转移酶活性 • DNA结合 • 转移酶活性 • RNA polymerase binding • 相同蛋白质结合 细胞组分 • BRCA1-BARD1 complex • condensed nuclear chromosome • BRCA1-A complex • ubiquitin ligase complex • 细胞膜 • 核质 • condensed chromosome • 细胞质 • 染色体 • 细胞核 • lateral element • 大分子复合体 • 核糖核蛋白 生物学过程 • response to ionizing radiation • centrosome cycle • 染色体分离 • protein K6-linked ubiquitination • intrinsic apoptotic signaling pathway in response to DNA damage • 细胞周期 • double-strand break repair via nonhomologous end joining • 细胞凋亡 • 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重组 • positive regulation of angiogenesis • response to estrogen • cellular response to indole-3-methanol • 死亡域受体对外源性凋亡信号通路的负调控 • negative regulation of transcription, DNA-templated • positive regulation of protein ubiquitination • androgen receptor signaling pathway • negative regulation of centriole replication • postreplication repair • 脂质代谢 • cellular response to tumor necrosis factor • positive regulation of DNA repair • 脂肪酸代谢 • 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修复 • 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 • 脱氧核糖核酸复制 • 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
物种	人类	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]
维基数据
查看/编辑人类 查看/编辑小鼠

BRCA1与BRCA2是两种不相关的蛋白质^[7]，但通常都在乳房与其他细胞组织中出现。它们可帮助修复DNA，也可在无法修复DNA的情况下破坏细胞。它们参与染色体损伤的修复，在DNA双链断裂的无错修复中起着重要作用^[8]。如果BRCA1或BRCA2本身因BRCA突变而受损，则受损的DNA无法正确修复，这会增加患乳腺癌的风险^[8]。BRCA1和BRCA2被描述为“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肿瘤抑制功能，而这些基因中的高渗透性突变会导致肿瘤抑制功能的丧失，这与患乳腺癌的风险增加相关^[9]。

发现

1990年，加州大学伯克利分校的玛丽·克莱尔·金（Mary-Claire King）实验室提供了第一个证据，证明存在编码与乳腺癌易感性有关的DNA修复酶的基因。 四年后，经过一场国际合作，人们发现了该基因，该基因是由美国犹他大学，国家环境健康科学研究所（NIEHS）和Myriad Genetics于1994年发现的。

参考文献

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]. （原始内容存档于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. （原始内容存档于2018-06-22） （英语）.
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. （原始内容存档于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. （原始内容存档于2021-05-13）.

外部链接

• 医学主题词表（MeSH）：BRCA1 Protein
• 医学主题词表（MeSH）：Genes, BRCA1
• PDBe-KB （页面存档备份，存于互联网档案馆） provides an overview of all the structure information available in the PDB for Human BRCA1.