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partner & localizer of BRCA2 ( PALB2, FANCN)
Function:
1) essential partner of BRCA2
2) promotes localization & stability of BRCA2
3) also enables recombinational repair & checkpoint functions of BRCA2
4) promotes stable association of BRCA2 with nuclear structures, allowing BRCA2 to escape the effects of proteasome-mediated degradation (putative)
5) phosphorylated upon DNA damage, probably by ATM or ATR
Compartment:
- nucleus
- colocalizes with BRCA2 in nuclear foci
Pathology:
1) variations in PALB2 are associated with breast cancer susceptibility
2) defects in PALB2 are the cause of Fanconi anemia complementation group N
Laboratory:
- PALB2 gene mutation
Related
breast cancer type 2 susceptibility protein (Fanconi anemia group D1 protein, BRCA2, FACD, FANCD1)
General
phosphoprotein
WD repeat protein family
Properties
SIZE: MW = 131 kD
entity length = 1186 aa
COMPARTMENT: cell nucleus
MOTIF: coiled coil {9-41}
Ser phosphorylation site {S59}
Ser phosphorylation site {S64}
Ser phosphorylation site {S157}
Ser phosphorylation site {S376}
Ser phosphorylation site {S660}
WD repeat {867-908}
WD repeat {1008-1050}
WD repeat {1102-1150}
WD repeat {1154-1186}
Database Correlations
OMIM 227650
UniProt Q86YC2
References
UniProt :accession Q86YC2