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Details on Person UniProt:Q86YC2 PALB2
| Class:Id | ReferenceGeneProduct:241569 |
|---|---|
| _chainChangeLog | chain:1-1186 added on Fri February 6 2015 |
| _displayName | UniProt:Q86YC2 PALB2 |
| _timestamp | 2024-11-03 19:57:50 |
| chain | chain:1-1186 |
| checksum | 215EC32291315FA2 |
| comment | FUNCTION Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks (PubMed:16793542, PubMed:19369211, PubMed:19423707, PubMed:22941656, PubMed:24141787, PubMed:28319063). 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) (PubMed:20871615). Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51 (PubMed:20871616). Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination (PubMed:19369211). 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 (PubMed:24141787). Essential partner of BRCA2 that promotes the localization and stability of BRCA2 (PubMed:16793542). Also enables its recombinational repair and checkpoint functions of BRCA2 (PubMed:16793542). May act by promoting stable association of BRCA2 with nuclear structures, allowing BRCA2 to escape the effects of proteasome-mediated degradation (PubMed:16793542). Binds DNA with high affinity for D loop, which comprises single-stranded, double-stranded and branched DNA structures (PubMed:20871616). May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with BRCA2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity (PubMed:24485656).SUBUNIT Homooligomer; dissociated upon DNA damage thus allowing association with BRCA1 (PubMed:19423707, PubMed:28319063). Oligomerization is essential for its focal accumulation at DNA breaks (PubMed:19423707). Part of a BRCA complex containing BRCA1, BRCA2 and PALB2 (PubMed:19369211). Interacts with BRCA1 and this interaction is essential for its function in HRR (PubMed:19369211, PubMed:28319063). Interacts with RAD51AP1 and MORF4L1/MRG15 (PubMed:20332121, PubMed:20871616). Component of the homologous recombination repair (HR) complex composed of ERCC5/XPG, BRCA2, PALB2, DSS1 and RAD51 (PubMed:26833090). Within the complex, interacts with ERCC5/XPG and BRCA2 (PubMed:26833090). Interacts with BRCA2, RAD51C, RAD51 and XRCC3; the interactions are direct and it may serve as a scaffold for a HR complex containing PALB2, BRCA2, RAD51C, RAD51 and XRCC3 (PubMed:16793542, PubMed:19423707, PubMed:19609323, PubMed:20871615, PubMed:20871616, PubMed:24141787, PubMed:28319063). Interacts with POLH; the interaction is direct (PubMed:24485656).INTERACTION Colocalizes with BRCA2 and BRCA1 in nuclear foci.DOMAIN Interaction with BRCA2 occurs through a hydrophobic pocket at the crossover between WD repeats 4 and 5.DOMAIN The coiled coil domain mediates self-association.DOMAIN The chromatin-association motif (ChAM) mediates association with chromatin, probably through nucleosome core particles, independently from binding to D loop, ssDNA or dsDNA structures.DISEASE Disease susceptibility is associated with variants affecting the gene represented in this entry. Breast cancer susceptibility is strongly associated with PALB2 truncating mutations. Conversely, rare missense mutations do not strongly influence breast cancer risk (PubMed:22241545).DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE Disease susceptibility is associated with variants affecting the gene represented in this entry.DISEASE Disease susceptibility is associated with variants affecting the gene represented in this entry.SEQUENCE CAUTION Truncated N-terminus. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: Partner and localizer of BRCA2 |
| geneName | PALB2 FANCN |
| identifier | Q86YC2 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Coiled coil Disease variant DNA damage DNA recombination DNA repair DNA-binding Fanconi anemia Nucleus Phosphoprotein Proteomics identification Reference proteome Repeat Tumor suppressor WD repeat |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9909836] Weiser, Joel, 2024-05-14 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | PALB2 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8989123] ENSEMBL:ENSG00000083093 PALB2 [Homo sapiens] |
| secondaryIdentifier | PALB2_HUMAN A6NIE1 Q8N7Y6 Q8ND31 Q9H6W1 |
| sequenceLength | 1186 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:419548] PALB2 [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9704338] PALB2 L35F [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9704339] PALB2 L21A [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9704347] PALB2 L21F [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9704349] PALB2 E12* [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9704417] PALB2 L939W [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9704424] PALB2 T1030I [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9704428] PALB2 L1143P [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9704437] PALB2 Y551* [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9704442] PALB2 L531Cfs*30 [nucleoplasm] [Homo sapiens] |
| (referenceSequence) | [NonsenseMutation:9704340] Nonsense mutation at L-glutamic acid 12 [ReplacedResidue:9704343] L-leucine 35 replaced with L-phenylalanine [ReplacedResidue:9704344] L-leucine 21 replaced with L-alanine [ReplacedResidue:9704350] L-leucine 21 replaced with L-phenylalanine [ReplacedResidue:9704415] L-leucine 939 replaced with L-tryptophan [ReplacedResidue:9704421] L-threonine 1030 replaced with L-isoleucine [ReplacedResidue:9704427] L-leucine 1143 replaced with L-proline [NonsenseMutation:9704434] Nonsense mutation at L-tyrosine 551 [FragmentReplacedModification:9704443] Replacement of residues 531 to 559 by CQLLACRLLTGPRKKSPHTNISTKNYLFK [NonsenseMutation:9704449] Nonsense mutation at L-tyrosine 409 |
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No pathways have been reviewed or authored by UniProt:Q86YC2 PALB2 (241569)
