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genyn codio-protien yn y rhywogaeth Homo sapiens

BARD1

BARD1
All data from the card 12
PDB
Human UniProt search: PDBe RCSB
Cyfenwau
BARD1, BRCA1 associated RING domain 1
Dynodwyr allanol
OMIM: 601593 HomoloGene: 400 GeneCards: BARD1
EC number
2.3.2.27
Cydrannau o'r gell
• cytoplasm• BRCA1-A complex• BRCA1-BARD1 complex• ubiquitin ligase complex• cnewyllyn cell• nucleoplasm• nuclear speck• cytoplasmic ribonucleoprotein granule
Species
Bod dynol
Entrez
580
Ensembl
ENSG00000138376
UniProt
Q99728
RefSeq (mRNA)
NM_000465NM_001282543NM_001282545NM_001282548NM_001282549
RefSeq (protein)
NP_000456NP_001269472NP_001269474NP_001269477NP_001269478NP_001269474.1
Lleoliad (UCSC)
n/a

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.

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Text from Wikipedia, CC BY-SA 4.0 · Source article