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UniProtKB - Q86YC2 (PALB2_HUMAN)

Entry version 157 (25 May 2022)
Sequence version 1 (01 Jun 2003)
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Protein

Partner and localizer of BRCA2

Gene

PALB2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks (PubMed:16793542, PubMed:19423707, PubMed:19369211, 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).

9 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding
Biological processDNA damage, DNA recombination, DNA repair

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q86YC2

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5685942, HDR through Homologous Recombination (HRR)
R-HSA-5693554, Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693568, Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693579, Homologous DNA Pairing and Strand Exchange
R-HSA-9701192, Defective HDR through Homologous Recombination (HRR) due to BRCA1 loss-of-function
R-HSA-9704331, Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
R-HSA-9704646, Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q86YC2

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q86YC2

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Partner and localizer of BRCA2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PALB2
Synonyms:FANCN
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:26144, PALB2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610355, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q86YC2

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000083093

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Breast cancer (BC)3 Publications
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).1 Publication
Disease descriptionA common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07984435L → P in BC; abrogates the interaction with BRCA1; abrogates double-stranded DNA break-initiated homologous recombination; abrogates PALB2 and RAD51 localization to ionizing radiation-induced foci; may weaken homooligomerization. 1 PublicationCorresponds to variant dbSNP:rs141047069EnsemblClinVar.1
Fanconi anemia complementation group N (FANCN)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Related information in OMIM
Pancreatic cancer 3 (PNCA3)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi14K → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication1
Mutagenesisi21L → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication1
Mutagenesisi28Y → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication1
Mutagenesisi35L → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication1
Mutagenesisi42E → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication1
Mutagenesisi1030T → I: Unstable and promotes protein degradation; reduces interaction with RAD51C and RAD51. 1 Publication1

Keywords - Diseasei

Disease variant, Fanconi anemia, Tumor suppressor

Organism-specific databases

DisGeNET

More...DisGeNETi		79728

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		PALB2

MalaCards human disease database

More...MalaCardsi		PALB2
MIMi114480, phenotype
610832, phenotype
613348, phenotype

Open Targets

More...OpenTargetsi		ENSG00000083093

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		1333, Familial pancreatic carcinoma
84, Fanconi anemia
145, Hereditary breast and ovarian cancer syndrome
227535, Hereditary breast cancer

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162398608

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q86YC2, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PALB2

Domain mapping of disease mutations (DMDM)

More...DMDMi		74727919

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002523911 – 1186Partner and localizer of BRCA2Add BLAST1186

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei172PhosphoserineCombined sources1
Modified residuei190PhosphoserineCombined sources1
Modified residuei285PhosphoserineCombined sources1
Modified residuei376PhosphoserineCombined sources1
Modified residuei387PhosphoserineCombined sources1
Modified residuei454PhosphoserineCombined sources1
Modified residuei660PhosphoserineCombined sources1
Modified residuei781PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-3284

Encyclopedia of Proteome Dynamics

More...EPDi		Q86YC2

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q86YC2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q86YC2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q86YC2

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q86YC2

PeptideAtlas

More...PeptideAtlasi		Q86YC2

PRoteomics IDEntifications database

More...PRIDEi		Q86YC2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		70395

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q86YC2, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q86YC2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q86YC2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000083093, Expressed in secondary oocyte and 189 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q86YC2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q86YC2, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000083093, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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:28319063, PubMed:16793542, PubMed:19423707, PubMed:19609323, PubMed:20871615, PubMed:20871616, PubMed:24141787).

Interacts with POLH; the interaction is direct (PubMed:24485656).

11 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		122843, 78 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-845, BRCA1-PALB2-BRCA2 homologous recombination DNA repair complex

Database of interacting proteins

More...DIPi		DIP-38427N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q86YC2

Protein interaction database and analysis system

More...IntActi		Q86YC2, 39 interactors

Molecular INTeraction database

More...MINTi		Q86YC2

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000261584

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q86YC2, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11186
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q86YC2

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q86YC2

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q86YC2

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati854 – 915WD 1Add BLAST62
Repeati917 – 961WD 2Add BLAST45
Repeati962 – 1009WD 3Add BLAST48
Repeati1010 – 1052WD 4Add BLAST43
Repeati1058 – 1109WD 5Add BLAST52
Repeati1115 – 1153WD 6Add BLAST39
Repeati1155 – 1186WD 7Add BLAST32

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 579DNA-binding (with the preference D loop > dsDNA > ssDNA)Add BLAST579
Regioni1 – 319Interaction with BRCA11 PublicationAdd BLAST319
Regioni1 – 200Interaction with RAD51Add BLAST200
Regioni1 – 160Required for its oligomerization and is important for its focal concentration at DNA damage sitesAdd BLAST160
Regioni52 – 72DisorderedSequence analysisAdd BLAST21
Regioni95 – 157DisorderedSequence analysisAdd BLAST63
Regioni252 – 273DisorderedSequence analysisAdd BLAST22
Regioni346 – 365DisorderedSequence analysisAdd BLAST20
Regioni395 – 446ChAM (Chromatin-association motif); required for chromatin association, mediates nucleosome associationAdd BLAST52
Regioni440 – 525DisorderedSequence analysisAdd BLAST86
Regioni679 – 698DisorderedSequence analysisAdd BLAST20
Regioni774 – 798DisorderedSequence analysisAdd BLAST25
Regioni775 – 1186Required for interaction with POLH and POLH DNA synthesis stimulation1 PublicationAdd BLAST412
Regioni853 – 1186Interaction with RAD51, BRCA2 and POLH1 PublicationAdd BLAST334

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili9 – 41Sequence analysisAdd BLAST33

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi123 – 144Basic and acidic residuesSequence analysisAdd BLAST22
Compositional biasi446 – 495Polar residuesSequence analysisAdd BLAST50
Compositional biasi684 – 698Polar residuesSequence analysisAdd BLAST15

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Interaction with BRCA2 occurs through a hydrophobic pocket at the crossover between WD repeats 4 and 5.1 Publication
The coiled coil domain mediates self-association.2 Publications
The chromatin-association motif (ChAM) mediates association with chromatin, probably through nucleosome core particles, independently from binding to D loop, ssDNA or dsDNA structures.2 Publications

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QRAP, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000014423

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_008217_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q86YC2

Identification of Orthologs from Complete Genome Data

More...OMAi		GHCQKED

Database of Orthologous Groups

More...OrthoDBi		710645at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q86YC2

TreeFam database of animal gene trees

More...TreeFami		TF351544

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.130.10.10, 1 hit

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00249

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR042417, PALB2
IPR031920, PALB2_WD40
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR036322, WD40_repeat_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR14662, PTHR14662, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF16756, PALB2_WD40, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50978, SSF50978, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

Q86YC2-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDEPPGKPLS CEEKEKLKEK LAFLKREYSK TLARLQRAQR AEKIKHSIKK 
        60         70         80         90        100
TVEEQDCLSQ QDLSPQLKHS EPKNKICVYD KLHIKTHLDE ETGEKTSITL 
       110        120        130        140        150
DVGPESFNPG DGPGGLPIQR TDDTQEHFPH RVSDPSGEQK QKLPSRRKKQ 
       160        170        180        190        200
QKRTFISQER DCVFGTDSLR LSGKRLKEQE EISSKNPARS PVTEIRTHLL 
       210        220        230        240        250
SLKSELPDSP EPVTEINEDS VLIPPTAQPE KGVDTFLRRP NFTRATTVPL 
       260        270        280        290        300
QTLSDSGSSQ HLEHIPPKGS SELTTHDLKN IRFTSPVSLE AQGKKMTVST 
       310        320        330        340        350
DNLLVNKAIS KSGQLPTSSN LEANISCSLN ELTYNNLPAN ENQNLKEQNQ 
       360        370        380        390        400
TEKSLKSPSD TLDGRNENLQ ESEILSQPKS LSLEATSPLS AEKHSCTVPE 
       410        420        430        440        450
GLLFPAEYYV RTTRSMSNCQ RKVAVEAVIQ SHLDVKKKGF KNKNKDASKN 
       460        470        480        490        500
LNLSNEETDQ SEIRMSGTCT GQPSSRTSQK LLSLTKVSSP AGPTEDNDLS 
       510        520        530        540        550
RKAVAQAPGR RYTGKRKSAC TPASDHCEPL LPTSSLSIVN RSKEEVTSHK 
       560        570        580        590        600
YQHEKLFIQV KGKKSRHQKE DSLSWSNSAY LSLDDDAFTA PFHRDGMLSL 
       610        620        630        640        650
KQLLSFLSIT DFQLPDEDFG PLKLEKVKSC SEKPVEPFES KMFGERHLKE 
       660        670        680        690        700
GSCIFPEELS PKRMDTEMED LEEDLIVLPG KSHPKRPNSQ SQHTKTGLSS 
       710        720        730        740        750
SILLYTPLNT VAPDDNDRPT TDMCSPAFPI LGTTPAFGPQ GSYEKASTEV 
       760        770        780        790        800
AGRTCCTPQL AHLKDSVCLA SDTKQFDSSG SPAKPHTTLQ VSGRQGQPTC 
       810        820        830        840        850
DCDSVPPGTP PPIESFTFKE NQLCRNTCQE LHKHSVEQTE TAELPASDSI 
       860        870        880        890        900
NPGNLQLVSE LKNPSGSCSV DVSAMFWERA GCKEPCIITA CEDVVSLWKA 
       910        920        930        940        950
LDAWQWEKLY TWHFAEVPVL QIVPVPDVYN LVCVALGNLE IREIRALFCS 
       960        970        980        990       1000
SDDESEKQVL LKSGNIKAVL GLTKRRLVSS SGTLSDQQVE VMTFAEDGGG 
      1010       1020       1030       1040       1050
KENQFLMPPE ETILTFAEVQ GMQEALLGTT IMNNIVIWNL KTGQLLKKMH 
      1060       1070       1080       1090       1100
IDDSYQASVC HKAYSEMGLL FIVLSHPCAK ESESLRSPVF QLIVINPKTT 
      1110       1120       1130       1140       1150
LSVGVMLYCL PPGQAGRFLE GDVKDHCAAA ILTSGTIAIW DLLLGQCTAL 
      1160       1170       1180 
LPPVSDQHWS FVKWSGTDSH LLAGQKDGNI FVYHYS
Length:1,186
Mass (Da):131,295
Last modified:June 1, 2003 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i215EC32291315FA2
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BN63H3BN63_HUMAN
Partner and localizer of BRCA2
PALB2 FLJ21816, hCG_1986920
891Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L3R6I3L3R6_HUMAN
Partner and localizer of BRCA2
PALB2
89Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L1Z5I3L1Z5_HUMAN
Partner and localizer of BRCA2
PALB2
43Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L2S5I3L2S5_HUMAN
Partner and localizer of BRCA2
PALB2
30Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB15140 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07984218K → R Decreases double-stranded DNA break-initiated homologous recombination. 1 PublicationCorresponds to variant dbSNP:rs138789658EnsemblClinVar.1
Natural variantiVAR_07984328Y → C Abrogates the interaction with BRCA1; decreases double-stranded DNA break-initiated homologous recombination; reduces PALB2 and RAD51 localization to ionizing radiation-induced foci; may weaken homooligomerization. 1 PublicationCorresponds to variant dbSNP:rs515726129EnsemblClinVar.1
Natural variantiVAR_07984435L → P in BC; abrogates the interaction with BRCA1; abrogates double-stranded DNA break-initiated homologous recombination; abrogates PALB2 and RAD51 localization to ionizing radiation-induced foci; may weaken homooligomerization. 1 PublicationCorresponds to variant dbSNP:rs141047069EnsemblClinVar.1
Natural variantiVAR_07984537R → H Decreases double-stranded DNA break-initiated homologous recombination. 1 PublicationCorresponds to variant dbSNP:rs202194596EnsemblClinVar.1
Natural variantiVAR_06636146H → Y1 Publication1
Natural variantiVAR_066362219D → G1 PublicationCorresponds to variant dbSNP:rs45594034EnsemblClinVar.1
Natural variantiVAR_032959309I → V. Corresponds to variant dbSNP:rs3809683EnsemblClinVar.1
Natural variantiVAR_066363334Y → C1 PublicationCorresponds to variant dbSNP:rs200620434EnsemblClinVar.1
Natural variantiVAR_066364337L → S1 PublicationCorresponds to variant dbSNP:rs45494092EnsemblClinVar.1
Natural variantiVAR_066365414R → Q1 PublicationCorresponds to variant dbSNP:rs749461008EnsemblClinVar.1
Natural variantiVAR_066366425V → M1 PublicationCorresponds to variant dbSNP:rs576081828EnsemblClinVar.1
Natural variantiVAR_066367491A → T1 PublicationCorresponds to variant dbSNP:rs577969558EnsemblClinVar.1
Natural variantiVAR_066368515K → R1 PublicationCorresponds to variant dbSNP:rs515726072EnsemblClinVar.1
Natural variantiVAR_066369559Q → R1 PublicationCorresponds to variant dbSNP:rs152451EnsemblClinVar.1
Natural variantiVAR_066370672E → Q1 PublicationCorresponds to variant dbSNP:rs45532440EnsemblClinVar.1
Natural variantiVAR_066371712A → V1 PublicationCorresponds to variant dbSNP:rs141458731EnsemblClinVar.1
Natural variantiVAR_066372728F → L1 Publication1
Natural variantiVAR_054150864P → S2 PublicationsCorresponds to variant dbSNP:rs45568339EnsemblClinVar.1
Natural variantiVAR_066373917V → A1 PublicationCorresponds to variant dbSNP:rs763645981EnsemblClinVar.1
Natural variantiVAR_066374932V → M1 PublicationCorresponds to variant dbSNP:rs45624036EnsemblClinVar.1
Natural variantiVAR_066375939L → W May be associated with breast cancer susceptibility; reduces interaction with BRCA2, RAD51 and XRCC3; decreases double-stranded DNA break-initiated homologous recombination; increases sensitivity to IR. 2 PublicationsCorresponds to variant dbSNP:rs45478192EnsemblClinVar.1
Natural variantiVAR_066376966I → V1 PublicationCorresponds to variant dbSNP:rs786204248EnsemblClinVar.1
Natural variantiVAR_066377998G → E May be associated with breast cancer susceptibility. 1 PublicationCorresponds to variant dbSNP:rs45551636EnsemblClinVar.1
Natural variantiVAR_0663781025A → T1 PublicationCorresponds to variant dbSNP:rs746872839EnsemblClinVar.1
Natural variantiVAR_0663791043G → A May be associated with breast cancer susceptibility; reduces interaction with BRCA2, RAD51C, RAD51 and XRCC3; decreases double-stranded DNA break-initiated homologous recombination; increases sensitivity to IR. 1 PublicationCorresponds to variant dbSNP:rs377713277EnsemblClinVar.1
Natural variantiVAR_0663801075S → G1 Publication1
Natural variantiVAR_0663811105V → A1 Publication1
Natural variantiVAR_0663821114Q → H1 PublicationCorresponds to variant dbSNP:rs1567206753EnsemblClinVar.1
Natural variantiVAR_0663831143L → P May be associated with breast cancer susceptibility. 2 PublicationsCorresponds to variant dbSNP:rs62625284EnsemblClinVar.1
Natural variantiVAR_0663841170H → Y1 PublicationCorresponds to variant dbSNP:rs200283306EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AL834425 mRNA Translation: CAD39086.1
CR749637 mRNA Translation: CAH18431.1
AC008870 Genomic DNA No translation available.
CH471145 Genomic DNA Translation: EAW55813.1
BC044254 mRNA Translation: AAH44254.1
AK025469 mRNA Translation: BAB15140.1 Different initiation.
AK097533 mRNA Translation: BAC05090.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32406.1

NCBI Reference Sequences

More...RefSeqi		NP_078951.2, NM_024675.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000261584.9; ENSP00000261584.4; ENSG00000083093.10

Database of genes from NCBI RefSeq genomes

More...GeneIDi		79728

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:79728

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000261584.9; ENSP00000261584.4; NM_024675.4; NP_078951.2

UCSC genome browser

More...UCSCi		uc002dlx.2, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL834425 mRNA Translation: CAD39086.1
CR749637 mRNA Translation: CAH18431.1
AC008870 Genomic DNA No translation available.
CH471145 Genomic DNA Translation: EAW55813.1
BC044254 mRNA Translation: AAH44254.1
AK025469 mRNA Translation: BAB15140.1 Different initiation.
AK097533 mRNA Translation: BAC05090.1
CCDSiCCDS32406.1
RefSeqiNP_078951.2, NM_024675.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2W18X-ray1.90A835-1186[»]
3EU7X-ray2.20A835-1186[»]
AlphaFoldDBiQ86YC2
SMRiQ86YC2
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi122843, 78 interactors
ComplexPortaliCPX-845, BRCA1-PALB2-BRCA2 homologous recombination DNA repair complex
DIPiDIP-38427N
ELMiQ86YC2
IntActiQ86YC2, 39 interactors
MINTiQ86YC2
STRINGi9606.ENSP00000261584

PTM databases

GlyGeniQ86YC2, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ86YC2
PhosphoSitePlusiQ86YC2

Genetic variation databases

BioMutaiPALB2
DMDMi74727919

Proteomic databases

CPTACiCPTAC-3284
EPDiQ86YC2
jPOSTiQ86YC2
MassIVEiQ86YC2
MaxQBiQ86YC2
PaxDbiQ86YC2
PeptideAtlasiQ86YC2
PRIDEiQ86YC2
ProteomicsDBi70395

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		26008, 239 antibodies from 35 providers

The CPTC Antibody Portal

More...CPTCi		Q86YC2, 1 antibody

The DNASU plasmid repository

More...DNASUi		79728

Genome annotation databases

EnsembliENST00000261584.9; ENSP00000261584.4; ENSG00000083093.10
GeneIDi79728
KEGGihsa:79728
MANE-SelectiENST00000261584.9; ENSP00000261584.4; NM_024675.4; NP_078951.2
UCSCiuc002dlx.2, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		79728
DisGeNETi79728

GeneCards: human genes, protein and diseases

More...GeneCardsi		PALB2
GeneReviewsiPALB2
HGNCiHGNC:26144, PALB2
HPAiENSG00000083093, Low tissue specificity
MalaCardsiPALB2
MIMi114480, phenotype
610355, gene
610832, phenotype
613348, phenotype
neXtProtiNX_Q86YC2
OpenTargetsiENSG00000083093
Orphaneti1333, Familial pancreatic carcinoma
84, Fanconi anemia
145, Hereditary breast and ovarian cancer syndrome
227535, Hereditary breast cancer
PharmGKBiPA162398608
VEuPathDBiHostDB:ENSG00000083093

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QRAP, Eukaryota
GeneTreeiENSGT00390000014423
HOGENOMiCLU_008217_0_0_1
InParanoidiQ86YC2
OMAiGHCQKED
OrthoDBi710645at2759
PhylomeDBiQ86YC2
TreeFamiTF351544

Enzyme and pathway databases

PathwayCommonsiQ86YC2
ReactomeiR-HSA-5685942, HDR through Homologous Recombination (HRR)
R-HSA-5693554, Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693568, Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693579, Homologous DNA Pairing and Strand Exchange
R-HSA-9701192, Defective HDR through Homologous Recombination (HRR) due to BRCA1 loss-of-function
R-HSA-9704331, Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
R-HSA-9704646, Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function
SignaLinkiQ86YC2
SIGNORiQ86YC2

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		79728, 209 hits in 1085 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PALB2, human
EvolutionaryTraceiQ86YC2

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PALB2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		79728
PharosiQ86YC2, Tbio

Protein Ontology

More...PROi		PR:Q86YC2
RNActiQ86YC2, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000083093, Expressed in secondary oocyte and 189 other tissues
ExpressionAtlasiQ86YC2, baseline and differential
GenevisibleiQ86YC2, HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
IDEALiIID00249
InterProiView protein in InterPro
IPR042417, PALB2
IPR031920, PALB2_WD40
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR036322, WD40_repeat_dom_sf
PANTHERiPTHR14662, PTHR14662, 1 hit
PfamiView protein in Pfam
PF16756, PALB2_WD40, 1 hit
SUPFAMiSSF50978, SSF50978, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPALB2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q86YC2
Secondary accession number(s): A6NIE1
, Q8N7Y6, Q8ND31, Q9H6W1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: June 1, 2003
Last modified: May 25, 2022
This is version 157 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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