Reactome | Defective BARD1 does not bind BRCA1

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Defective BARD1 does not bind BRCA1 Show undefined attributes

authored	[InstanceEdit:9702562] Orlic-Milacic, Marija, 2020-09-30
category	transition
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9699154] Orlic-Milacic, Marija, 2020-09-11
crossReference	[DatabaseIdentifier:12020745] Mondo:0004992
dbId	9699163
disease	[Disease:1500689] cancer
displayName	Defective BARD1 does not bind BRCA1
edited	[InstanceEdit:9706872] Orlic-Milacic, Marija, 2020-11-09
entityFunctionalStatus	[EntityFunctionalStatus:9699149] loss_of_function and partial_loss_of_function of BARD1 mutants (BRCA1 binding) [nucleoplasm]
eventOf	[Pathway:R-HSA-9699150] Defective DNA double strand break response due to BARD1 loss of function - Homo sapiens
input	[CandidateSet:R-HSA-9699130] BARD1 mutants (BRCA1 binding) [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-50949] BRCA1 [nucleoplasm]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9699159] Enhancement of BRCA1 E3 ubiquitin ligase activity through direct interaction with the BARD1 protein [LiteratureReference:9699157] Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks [LiteratureReference:9700820] BRCA1 DNA-binding activity is stimulated by BARD1 [LiteratureReference:9663864] ClinGen Allele Registry links information about genetic variants
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective BARD1 does not bind BRCA1
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-9699163
summation	[Summation:9700818] The N-terminal RING domain and C-terminal BRCT repeats of BA...

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[Pathway:R-HSA-9699150] Defective DNA double strand break response due to BARD1 loss of function

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