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)
Akhir	101,442,781 bp
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
	672
	12189
	ENSG00000012048
	ENSMUSG00000017146
	P38398
	P48754
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
	NP_009225; NP_009228; NP_009229; NP_009230; NP_009231
	NP_033894
	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]

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. Pemeliharaan CS1: Format PMC (link)
^ "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. Treasure Island (FL): StatPearls Publishing. PMID 29262038.
^ ^a ^b 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. Pemeliharaan CS1: Format PMC (link)
^ 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.

[refGRCm38Ensembl-1] 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.

[:0-4] 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.

[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.

[:1-8] Casaubon, Jesse T.; Kashyap, Sarang; Regan, John-Paul (2024). BRCA1 and BRCA2 Mutations. Treasure Island (FL): StatPearls Publishing. PMID 29262038.

[:2-9] 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. 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.

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