Defective recruitment of BRCA2 and RAD51 due to loss of BRCA2 function in PALB2 binding

Stable Identifier
R-HSA-9709601
Type
Reaction [transition]
Species
Homo sapiens
Compartment
nucleoplasm
ReviewStatus
5/5
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Defective recruitment of BRCA2 and RAD51 due to loss of BRCA2 function in PALB2 binding
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The extreme N-terminus of BRCA2, involving amino acid residues 10-40, is necessary and sufficient for PALB2 binding (Xia et al. 2006). Several germline BRCA2 missense mutations identified in breast cancer patients map to this region and impair the ability of BRCA2 recombinant constructs that include the first 60 amino acids of BRCA2 to bind to PALB2:
BRCA2 G25R (severely diminished binding to PALB2, Xia et al. 2006)
BRCA2 W31R (complete loss of PALB2 binding, Xia et al. 2006)
BRCA2 W31C (complete loss of PALB2 binding, Xia et al. 2006)
Literature References
PubMed ID Title Journal Year
16793542 Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2

Livingston, DM, Couch, FJ, Liu, X, Sheng, Q, Xia, B, Ohashi, A, Nakanishi, K, Christ, N, Jasin, M, Wu, J

Mol Cell 2006
Participants
Input
Participates
as an event of
Normal reaction
D-loop formation mediated by PALB2, BRCA2 and RAD51 (Homo sapiens)
Functional status

Loss of function and partial loss of function of 3' overhanging ssDNA-DSBs:p-MRN:p-S1981,Ac-K3016-ATM:KAT5:BRCA1-C complex:EXO1,DNA2:BLM,WRN:p-S990,Ac-K1249-BRIP1:p-T309-RAD51:BRCA2 mutants (PALB2 binding):SEM1:BCDX2 complex [nucleoplasm]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
Authored
Orlic-Milacic, M  (2020-12-11)
Reviewed
Liu, J  (2022-01-26)
Le, HP  (2022-01-26)
Heyer, WD  (2022-01-26)
Created
Orlic-Milacic, M  (2020-12-16)
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