BARD1

BARD1
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	1JM7, 2NTE, 2R1Z, 3C5R, 3FA2
Dynodwyr
Cyfenwau	BARD1, BRCA1 associated RING domain 1
Dynodwyr allanol	OMIM: 601593 HomoloGene: 400 GeneCards: BARD1
Patrwm RNA pattern
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• metal ion binding; • protein homodimerization activity; • kinase binding; • RNA binding; • protein heterodimerization activity; • GO:0050372 ubiquitin-protein transferase activity; • GO:0001948, GO:0016582 protein binding; • transferase activity;
Cydrannau o'r gell	• cytoplasm; • BRCA1-A complex; • BRCA1-BARD1 complex; • ubiquitin ligase complex; • cnewyllyn cell; • nucleoplasm; • nuclear speck; • cytoplasmic ribonucleoprotein granule;
Prosesau biolegol	• regulation of phosphorylation; • negative regulation of apoptotic process; • protein K6-linked ubiquitination; • negative regulation of mRNA 3'-end processing; • GO:1903364 positive regulation of protein catabolic process; • negative regulation of protein export from nucleus; • double-strand break repair via nonhomologous end joining; • cellular response to DNA damage stimulus; • tissue homeostasis; • protein ubiquitination; • positive regulation of apoptotic process; • DNA replication; • DNA double-strand break processing; • GO:0100026 DNA repair; • protein deubiquitination; • regulation of signal transduction by p53 class mediator;
	Sources:Amigo / QuickGO
Orthologau
	580
	n/a
	ENSG00000138376
	n/a
	Q99728
	n/a
	NM_000465; NM_001282543; NM_001282545; NM_001282548; NM_001282549
	n/a
NP_000456; NP_001269472; NP_001269474; NP_001269477; NP_001269478;
	NP_001269474.1
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn BARD1 yw BARD1 a elwir hefyd yn BRCA1 associated RING domain 1 isoform phi a BRCA1 associated RING domain 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 2, band 2q35.^[2]

Llyfryddiaeth

"BARD1 Gene Polymorphisms Confer Nephroblastoma Susceptibility. ". EBioMedicine. 2017. PMID 28161399.
"BARD1 splice variants display mislocalization in breast cancer cells and can alter the apoptotic response to cisplatin. ". Cancer Lett. 2016. PMID 27477900.
"The Association between GWAS-identified BARD1 Gene SNPs and Neuroblastoma Susceptibility in a Southern Chinese Population. ". Int J Med Sci. 2016. PMID 26941572.
"Cancer predisposing BARD1 mutations affect exon skipping and are associated with overexpression of specific BARD1 isoforms. ". Oncol Rep. 2015. PMID 26329992.
"Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example.". Sci Rep. 2015. PMID 25994375.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] BARD1 - Cronfa NCBI

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[2]