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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

  • DNA binding Source: UniProtKB

GO - Biological processi

<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

Reactome - a knowledgebase of biological pathways and processes

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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

SIGNOR Signaling Network Open Resource

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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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000083093.9

Human Gene Nomenclature Database

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HGNCi
HGNC:26144 PALB2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
610355 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q86YC2

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 variations 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.
See also OMIM:114480
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:rs141047069Ensembl.1
Fanconi anemia complementation group N (FANCN)1 Publication
The disease is caused by mutations 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.
See also OMIM:610832
Pancreatic cancer 3 (PNCA3)1 Publication
The disease is caused by mutations 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.
See also OMIM:613348

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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

Fanconi anemia, Tumor suppressor

Organism-specific databases

DisGeNET

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DisGeNETi
79728

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

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GeneReviewsi
PALB2

MalaCards human disease database

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MalaCardsi
PALB2
MIMi114480 phenotype
610832 phenotype
613348 phenotype

Open Targets

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OpenTargetsi
ENSG00000083093

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

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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

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PharmGKBi
PA162398608

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PALB2

Domain mapping of disease mutations (DMDM)

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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.<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

Encyclopedia of Proteome Dynamics

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EPDi
Q86YC2

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q86YC2

MaxQB - The MaxQuant DataBase

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MaxQBi
Q86YC2

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

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PaxDbi
Q86YC2

PeptideAtlas

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PeptideAtlasi
Q86YC2

PRoteomics IDEntifications database

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PRIDEi
Q86YC2

ProteomicsDB human proteome resource

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ProteomicsDBi
70395

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q86YC2

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

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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

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Bgeei
ENSG00000083093 Expressed in 176 organ(s), highest expression level in secondary oocyte

CleanEx database of gene expression profiles

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CleanExi
HS_PALB2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q86YC2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q86YC2 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB014895
HPA057000

<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_section">'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_section">'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). 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).10 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122843, 50 interactors

Database of interacting proteins

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DIPi
DIP-38427N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q86YC2

Protein interaction database and analysis system

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IntActi
Q86YC2, 36 interactors

Molecular INTeraction database

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MINTi
Q86YC2

STRING: functional protein association networks

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STRINGi
9606.ENSP00000261584

<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

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q86YC2

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

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SMRi
Q86YC2

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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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
Regioni395 – 446ChAM (Chromatin-association motif); required for chromatin association, mediates nucleosome associationAdd BLAST52
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

<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

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eggNOGi
ENOG410IIBP Eukaryota
ENOG4111F80 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000014423

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000115428

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG082102

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q86YC2

KEGG Orthology (KO)

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KOi
K10897

Identification of Orthologs from Complete Genome Data

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OMAi
QFLMPPE

Database of Orthologous Groups

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OrthoDBi
710645at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q86YC2

TreeFam database of animal gene trees

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TreeFami
TF351544

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR031920 PALB2_WD40
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR036322 WD40_repeat_dom_sf

Pfam protein domain database

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Pfami
View protein in Pfam
PF16756 PALB2_WD40, 1 hit

Superfamily database of structural and functional annotation

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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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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
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>
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>
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>
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>

<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:rs141047069Ensembl.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 Publication1
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

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

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CCDSi
CCDS32406.1

NCBI Reference Sequences

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RefSeqi
NP_078951.2, NM_024675.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.444664

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000261584; ENSP00000261584; ENSG00000083093

Database of genes from NCBI RefSeq genomes

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GeneIDi
79728

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79728

UCSC genome browser

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UCSCi
uc002dlx.2 human

Keywords - Coding sequence diversityi

Polymorphism

<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
UniGeneiHs.444664

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2W18X-ray1.90A835-1186[»]
3EU7X-ray2.20A835-1186[»]
ProteinModelPortaliQ86YC2
SMRiQ86YC2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122843, 50 interactors
DIPiDIP-38427N
ELMiQ86YC2
IntActiQ86YC2, 36 interactors
MINTiQ86YC2
STRINGi9606.ENSP00000261584

PTM databases

iPTMnetiQ86YC2
PhosphoSitePlusiQ86YC2

Polymorphism and mutation databases

BioMutaiPALB2
DMDMi74727919

Proteomic databases

EPDiQ86YC2
jPOSTiQ86YC2
MaxQBiQ86YC2
PaxDbiQ86YC2
PeptideAtlasiQ86YC2
PRIDEiQ86YC2
ProteomicsDBi70395

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
79728
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261584; ENSP00000261584; ENSG00000083093
GeneIDi79728
KEGGihsa:79728
UCSCiuc002dlx.2 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
79728
DisGeNETi79728
EuPathDBiHostDB:ENSG00000083093.9

GeneCards: human genes, protein and diseases

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GeneCardsi
PALB2
GeneReviewsiPALB2
HGNCiHGNC:26144 PALB2
HPAiCAB014895
HPA057000
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

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IIBP Eukaryota
ENOG4111F80 LUCA
GeneTreeiENSGT00390000014423
HOGENOMiHOG000115428
HOVERGENiHBG082102
InParanoidiQ86YC2
KOiK10897
OMAiQFLMPPE
OrthoDBi710645at2759
PhylomeDBiQ86YC2
TreeFamiTF351544

Enzyme and pathway databases

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
SIGNORiQ86YC2

Miscellaneous databases

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

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ChiTaRSi
PALB2 human
EvolutionaryTraceiQ86YC2

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PALB2

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

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GenomeRNAii
79728

Protein Ontology

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PROi
PR:Q86YC2

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000083093 Expressed in 176 organ(s), highest expression level in secondary oocyte
CleanExiHS_PALB2
ExpressionAtlasiQ86YC2 baseline and differential
GenevisibleiQ86YC2 HS

Family and domain databases

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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_and_isoforms">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: January 16, 2019
This is version 139 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, Complete proteome, Reference proteome

Documents

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