| Gene Symbol |
PALB2
|
| Entrez Gene |
79728
|
| Alt Symbol |
FANCN, PNCA3
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
partner and localizer of BRCA2
|
| Other Description |
-
|
| Swissprots |
Q9H6W1 Q8N7Y6 Q8ND31 A6NIE1 Q86YC2
|
| Accessions |
CAS97368 EAW55811 EAW55812 EAW55813 Q86YC2 AK025469 BAB15140 AK097533 BAC05090 AK299152 BAG61201 AL834425 CAD39086 BC044254 AAH44254 BE670820 BX647125 BX647130 CR749637 CAH18431 DA192828 EU831610 ACE87210 EU831697 ACE86531 XM_011545946 XP_011544248 XM_011545947 XP_011544249 XM_011545948 XP_011544250 XR_950851 NM_024675 NP_078951
|
| Function |
Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks. Strongly stimulates the DNA strand-invasion activity of RAD51, stabilizes the nucleoprotein filament against a disruptive BRC3-BRC4 polypeptide and helps RAD51 to overcome the suppressive effect of replication protein A (RPA). Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51. Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination. Via its WD repeats is proposed to scaffold a HR complex containing RAD51C and BRCA2 which is thought to play a role in HR-mediated DNA repair. Essential partner of BRCA2 that promotes the localization and stability of BRCA2. Also enables its recombinational repair and checkpoint functions of BRCA2. May act by promoting stable association of BRCA2 with nuclear structures, allowing BRCA2 to escape the effects of proteasome-mediated d
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:16793542}. Note=Colocalizes with BRCA2 in nuclear foci.
|
| Top Pathways |
Fanconi anemia pathway
|