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 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 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]
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 Ensembl UniProt RefSeq (mRNA) RefSeq (protein) Lokasi (UCSC) n/a Chr 11: 101.38 – 101.44 Mb Pencarian PubMed [ 2] [ 3] Wikidata
BRCA1 dan BRCA2 adalah protein yang tidak saling berhubungan,[ 7] [ 8] [ 4] 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] [ 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] [ 9] [ 12]
Referensi
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000017146 - 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 . ^ 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 . ^ 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 . ^ "BRCA1 orthologs" . NCBI (dalam bahasa Inggris). Diakses tanggal 2024-03-18 . ^ 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 . ^ a b Casaubon, Jesse T.; Kashyap, Sarang; Regan, John-Paul (2024). BRCA1 and BRCA2 Mutations PMID 29262038 . ^ 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 . ^ 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 . ^ 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 . ^ 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 .
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