BRCA1

BRCA1
Struktur yang tersedia PDB Pencarian Ortolog: PDBe RCSB Daftar kode id PDB 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
Pengidentifikasi
Alias	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
ID eksternal	OMIM: 113705 MGI: 104537 HomoloGene: 5276 GeneCards: BRCA1
Lokasi gen (Tikus) Kr. Kromosom 11 (tikus)[1] Pita 11 65.18 cM|11 D Awal 101,379,590 bp[1] Akhir 101,442,781 bp[1]
Pola ekspresi RNA Referensi data ekspresi selengkapnya
Ontologi gen Fungsi molekuler • tubulin binding • metal ion binding • enzyme binding • zinc ion binding • damaged DNA binding • GO:0001948, GO:0016582 Ikatan protein plasma • GO:0001105 transcription coactivator activity • androgen receptor binding • RNA binding • ubiquitin protein ligase binding • GO:0050372 ubiquitin-protein transferase activity • DNA binding • transferase activity • RNA polymerase binding • pengikatan protein identik Komponen seluler • BRCA1-BARD1 complex • condensed nuclear chromosome • BRCA1-A complex • ubiquitin ligase complex • Membran sel • nucleoplasm • condensed chromosome • sitoplasma • kromosom • Inti sel • lateral element • GO:0009327 protein-containing complex • ribonucleoprotein complex Proses biologis • response to ionizing radiation • centrosome cycle • chromosome segregation • protein K6-linked ubiquitination • intrinsic apoptotic signaling pathway in response to DNA damage • Siklus sel • double-strand break repair via nonhomologous end joining • GO:0097285 Apoptosis • regulation of apoptotic process • regulation of gene expression by genetic imprinting • GO:0009373 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 recombination • positive regulation of angiogenesis • response to estrogen • cellular response to indole-3-methanol • negative regulation of extrinsic apoptotic signaling pathway via death domain receptors • GO:0045996 negative regulation of transcription, DNA-templated • positive regulation of protein ubiquitination • androgen receptor signaling pathway • negative regulation of centriole replication • postreplication repair • metabolisme lipid • cellular response to tumor necrosis factor • GO:1900404 positive regulation of DNA repair • Metabolisme asam lemak • GO:1901313 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 • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 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 • GO:0100026 Reparasi DNA • 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 • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated • chordate embryonic development • positive regulation of histone H4-K16 acetylation • cellular response to DNA damage stimulus • protein deubiquitination • Replikasi DNA • mitotic G2/M transition checkpoint • GO:0044324, GO:0003256, GO:1901213, GO:0046019, GO:0046020, GO:1900094, GO:0061216, GO:0060994, GO:1902064, GO:0003258, GO:0072212 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 Sumber:Amigo / QuickGO
Ortolog
Spesies	Manusia	Tikus
Entrez	672	12189
Ensembl	ENSG00000012048	ENSMUSG00000017146
UniProt	P38398	P48754
RefSeq (mRNA)	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
RefSeq (protein)	NP_009225 NP_009228 NP_009229 NP_009230 NP_009231	NP_033894
Lokasi (UCSC)	n/a	Chr 11: 101.38 – 101.44 Mb
Pencarian PubMed	[2]	[3]
Wikidata
Lihat/Sunting Manusia Lihat/Sunting Tikus

Breast cancer type 1 susceptibility protein adalah protein yang pada manusia dikodekan oleh gen BRCA1. BRCA1 adalah gen penekan tumor (tumor supressor) pada manusia dan bertanggung jawab untuk memperbaiki kerusakan DNA.^[4][5] Ortolog dari gen ini umum ditemukan pada spesies vertebrata lain selain manusia, sedangkan genom invertebrata mengkodekan gen terkait yang berkerabat jauh.^[6]

BRCA1 dan BRCA2 adalah protein yang tidak saling berhubungan,^[7] tetapi keduanya biasanya diekspresikan dalam sel payudara dan jaringan lain, di mana mereka membantu memperbaiki DNA yang rusak, atau menghancurkan sel jika DNA tidak dapat diperbaiki.^[8][4] Keduanya terlibat dalam perbaikan kerusakan kromosom dengan peran penting dalam perbaikan kerusakan untai ganda DNA.^[9][4]

Jika BRCA1 atau BRCA2 itu sendiri rusak akibat mutasi BRCA, maka DNA yang rusak tidak dapat diperbaiki dengan baik, dan hal ini meningkatkan risiko terjadinya kanker payudara.^[8][9] Alel dominan memiliki fungsi penekan tumor yang normal, sedangkan mutasi penetrasi tinggi pada gen-gen ini menyebabkan hilangnya fungsi penekan tumor yang berkorelasi dengan peningkatan risiko kanker payudara.^[10]

BRCA1 berasosiasi dengan protein penekan tumor lainnya, protein sensor kerusakan DNA, dan transduser sinyal untuk membentuk kompleks protein multi-subunit besar yang dikenal sebagai kompleks pengawasan genom yang terasosiasi dengan BRCA1 (BRCA1-associated genome surveillance complex, BASC).^[11] Protein BRCA1 berasosiasi dengan RNA polimerase II, dan melalui domain C-terminal, juga berinteraksi dengan kompleks histone deacetylase.^[9] Dengan demikian, protein ini berperan dalam transkripsi, dan perbaikan DNA dari kerusakan DNA untai ganda ubiquitinasi, regulasi transkripsi, serta fungsi lainnya.^[12]

1. ^ ^{a b c} GRCm38: Ensembl release 89: ENSMUSG00000017146 - Ensembl, May 2017
2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. 
3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. 
4. ^ ^{a b c} Yoshida, Kiyotsugu; Miki, Yoshio (2004-11). "Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage". Cancer Science (dalam bahasa Inggris). 95 (11): 866–871. doi:10.1111/j.1349-7006.2004.tb02195.x. ISSN 1347-9032.  Periksa nilai tanggal di: |date= (bantuan)
5. ^ Duncan, J. A.; Reeves, J. R.; Cooke, T. G. (1998-10-01). "BRCA1 and BRCA2 proteins: roles in health and disease". Molecular Pathology (dalam bahasa Inggris). 51 (5): 237–247. doi:10.1136/mp.51.5.237. ISSN 1366-8714. PMC 395646 . PMID 10193517. Pemeliharaan CS1: Format PMC (link)
6. ^ "BRCA1 orthologs". NCBI (dalam bahasa Inggris). Diakses tanggal 2024-03-18. 
7. ^ Irminger-Finger, Irmgard; Ratajska, Magda; Pilyugin, Maxim (2016-03). "New concepts on BARD1: Regulator of BRCA pathways and beyond". The International Journal of Biochemistry & Cell Biology (dalam bahasa Inggris). 72: 1–17. doi:10.1016/j.biocel.2015.12.008.  Periksa nilai tanggal di: |date= (bantuan)
8. ^ ^{a b} Casaubon, Jesse T.; Kashyap, Sarang; Regan, John-Paul (2024). BRCA1 and BRCA2 Mutations. Treasure Island (FL): StatPearls Publishing. PMID 29262038. 
9. ^ ^{a b c} Friedenson, Bernard (2007-12). "The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers". BMC Cancer (dalam bahasa Inggris). 7 (1). doi:10.1186/1471-2407-7-152. ISSN 1471-2407. PMC 1959234 . PMID 17683622.  Periksa nilai tanggal di: |date= (bantuan)Pemeliharaan CS1: Format PMC (link)
10. ^ O'Donovan, P. J.; Livingston, D. M. (2010-06-01). "BRCA1 and BRCA2: breast/ovarian cancer susceptibility gene products and participants in DNA double-strand break repair". Carcinogenesis (dalam bahasa Inggris). 31 (6): 961–967. doi:10.1093/carcin/bgq069. ISSN 0143-3334. 
11. ^ Wang, Y.; Cortez, D.; Yazdi, P.; Neff, N.; Elledge, S. J.; Qin, J. (2000-04-15). "BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures". Genes & Development. 14 (8): 927–939. ISSN 0890-9369. PMID 10783165. 
12. ^ Starita, L (2003-06). "The multiple nuclear functions of BRCA1: transcription, ubiquitination and DNA repair". Current Opinion in Cell Biology (dalam bahasa Inggris). 15 (3): 345–350. doi:10.1016/S0955-0674(03)00042-5.  Periksa nilai tanggal di: |date= (bantuan)