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Some pathogenic BRCA1 mutants do not bind BARD1
Show undefined attributes
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authored
[InstanceEdit:9702562] Orlic-Milacic, Marija, 2020-09-30
category
transition
compartment
[Compartment:7660] nucleoplasm
created
[InstanceEdit:9663197] Orlic-Milacic, Marija, 2019-09-27
crossReference
[DatabaseIdentifier:12020745] Mondo:0004992
dbId
9663194
disease
[Disease:1500689] cancer
displayName
Some pathogenic BRCA1 mutants do not bind BARD1
edited
[InstanceEdit:9706872] Orlic-Milacic, Marija, 2020-11-09
entityFunctionalStatus
[EntityFunctionalStatus:9663211] loss_of_function of BRCA1 mutants (BARD1 binding) [nucleoplasm]
eventOf
[Pathway:R-HSA-9663199] Defective DNA double strand break response due to BRCA1 loss of function - Homo sapiens
input
[EntityWithAccessionedSequence:R-HSA-5659775] BARD1 [nucleoplasm]
[CandidateSet:R-HSA-9663193] BRCA1 mutants (BARD1 binding) [nucleoplasm]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:9663191] Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination
[LiteratureReference:5659818] Characterization of an Italian founder mutation in the RING-finger domain of BRCA1
[LiteratureReference:5659810] Identification of a RING protein that can interact in vivo with the BRCA1 gene product
[LiteratureReference:9700977] BRCA1 RING domain cancer-predisposing mutations. Structural consequences and effects on protein-protein interactions
[LiteratureReference:5659825] Structure of a BRCA1-BARD1 heterodimeric RING-RING complex
maxDepth
1
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name
Some pathogenic BRCA1 mutants do not bind BARD1
normalReaction
[Reaction:R-HSA-5659781] BRCA1 forms a heterodimer with BARD1
releaseDate
2020-12-08
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:9706944] Baer, Richard J, 2020-11-04
schemaClass
FailedReaction
species
[Species:48887] Homo sapiens
stId
R-HSA-9663194
summation
[Summation:9700976] The heterodimerization of BRCA1 and BARD1 is mediated by seq...
Referrals
(hasEvent)
[Pathway:R-HSA-9663199] Defective DNA double strand break response due to BRCA1 loss of function
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