BRCA1

Protein sydd yn cael eu codio yn y corff dynol gan y genyn BRCA1 yw BRCA1 a elwir hefyd yn breast cancer 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi eu lleoli ar yr edefyn ôl o gromosom dynol 17, band 17q21.31.

BRCA1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr 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
Dynodwyr
Cyfenwau	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
Dynodwyr allanol	OMIM: 113705 HomoloGene: 5276 GeneCards: BRCA1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • tubulin binding • metal ion binding • enzyme binding • zinc ion binding • damaged DNA binding • GO:0001948, GO:0016582 protein binding • 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 • identical protein binding Cydrannau o'r gell • BRCA1-BARD1 complex • condensed nuclear chromosome • BRCA1-A complex • ubiquitin ligase complex • Cellbilen • nucleoplasm • condensed chromosome • cytoplasm • Cromosom • cnewyllyn cell • lateral element • GO:0009327 protein-containing complex • ribonucleoprotein complex Prosesau biolegol • response to ionizing radiation • centrosome cycle • chromosome segregation • protein K6-linked ubiquitination • intrinsic apoptotic signaling pathway in response to DNA damage • cell cycle • double-strand break repair via nonhomologous end joining • GO:0097285 apoptotic process • 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 • lipid metabolism • cellular response to tumor necrosis factor • GO:1900404 positive regulation of DNA repair • fatty acid metabolic process • 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 DNA repair • 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 • DNA replication • 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 Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	672	n/a
Ensembl	ENSG00000012048	n/a
UniProt	P38398	n/a
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	n/a
RefSeq (protein)	NP_009225 NP_009228 NP_009229 NP_009230 NP_009231	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mae'r un genyn oedd hi. Hefyd Mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn BRCA1.

• IRIS
• PSCP
• BRCAI
• BRCC1
• FANCS
• PNCA4
• RNF53
• BROVCA1
• PPP1R53

Llyfryddiaeth

• "Diagnostic markers for the detection of ovarian cancer in BRCA1 mutation carriers.". PLoS One. 2017. PMID 29244844.
• "Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.". Nat Genet. 2017. PMID 29058716.
• "Ovarian Aging in Women With BRCA Germline Mutations.". J Clin Endocrinol Metab. 2017. PMID 28938488.
• "Prevalent somatic BRCA1 mutations shape clinically relevant genomic patterns of nasopharyngeal carcinoma in Southeast Europe.". Int J Cancer. 2018. PMID 28857155.
• "Rapid selection of BRCA1-proficient tumor cells during neoadjuvant therapy for ovarian cancer in BRCA1 mutation carriers.". Cancer Lett. 2017. PMID 28377179.

Cyfeiriadau

• BRCA1 - Cronfa NCBI