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
Species	Bod dynol	Llygoden
Entrez	580	n/a
Ensembl	ENSG00000138376	n/a
UniProt	Q99728	n/a
RefSeq (mRNA)	NM_000465 NM_001282543 NM_001282545 NM_001282548 NM_001282549	n/a
RefSeq (protein)	NP_000456 NP_001269472 NP_001269474 NP_001269477 NP_001269478 NP_001269474.1	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		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.

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.