UniProtKB - Q86YC2 (PALB2_HUMAN)
Partner and localizer of BRCA2
PALB2
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 PublicationsGO - Molecular functioni
- DNA binding Source: UniProtKB
GO - Biological processi
- animal organ morphogenesis Source: Ensembl
- double-strand break repair via homologous recombination Source: UniProtKB
- embryonic organ development Source: Ensembl
- inner cell mass cell proliferation Source: Ensembl
- mesoderm development Source: Ensembl
- multicellular organism growth Source: Ensembl
- negative regulation of apoptotic process Source: Ensembl
- post-anal tail morphogenesis Source: Ensembl
- somitogenesis Source: Ensembl
Keywordsi
Molecular function | DNA-binding |
Biological process | DNA damage, DNA recombination, DNA repair |
Enzyme and pathway databases
PathwayCommonsi | Q86YC2 |
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 |
SignaLinki | Q86YC2 |
SIGNORi | Q86YC2 |
Names & Taxonomyi
Protein namesi | Recommended name: Partner and localizer of BRCA2 |
Gene namesi | Name:PALB2 Synonyms:FANCN |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:26144, PALB2 |
MIMi | 610355, gene |
neXtProti | NX_Q86YC2 |
VEuPathDBi | HostDB:ENSG00000083093 |
Subcellular locationi
Nucleus
- Nucleus 3 Publications
Note: Colocalizes with BRCA2 and BRCA1 in nuclear foci.2 Publications
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: ComplexPortal
Other locations
- DNA repair complex Source: ComplexPortal
- protein-containing complex Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Breast cancer (BC)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079844 | 35 | L → 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
Pancreatic cancer 3 (PNCA3)1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 14 | K → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication | 1 | |
Mutagenesisi | 21 | L → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication | 1 | |
Mutagenesisi | 28 | Y → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication | 1 | |
Mutagenesisi | 35 | L → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication | 1 | |
Mutagenesisi | 42 | E → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication | 1 | |
Mutagenesisi | 1030 | T → I: Unstable and promotes protein degradation; reduces interaction with RAD51C and RAD51. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Fanconi anemia, Tumor suppressorOrganism-specific databases
DisGeNETi | 79728 |
GeneReviewsi | PALB2 |
MalaCardsi | PALB2 |
MIMi | 114480, phenotype 610832, phenotype 613348, phenotype |
OpenTargetsi | ENSG00000083093 |
Orphaneti | 1333, Familial pancreatic carcinoma 84, Fanconi anemia 145, Hereditary breast and ovarian cancer syndrome 227535, Hereditary breast cancer |
PharmGKBi | PA162398608 |
Miscellaneous databases
Pharosi | Q86YC2, Tbio |
Genetic variation databases
BioMutai | PALB2 |
DMDMi | 74727919 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000252391 | 1 – 1186 | Partner and localizer of BRCA2Add BLAST | 1186 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 172 | PhosphoserineCombined sources | 1 | |
Modified residuei | 190 | PhosphoserineCombined sources | 1 | |
Modified residuei | 285 | PhosphoserineCombined sources | 1 | |
Modified residuei | 376 | PhosphoserineCombined sources | 1 | |
Modified residuei | 387 | PhosphoserineCombined sources | 1 | |
Modified residuei | 454 | PhosphoserineCombined sources | 1 | |
Modified residuei | 660 | PhosphoserineCombined sources | 1 | |
Modified residuei | 781 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
CPTACi | CPTAC-3284 |
EPDi | Q86YC2 |
jPOSTi | Q86YC2 |
MassIVEi | Q86YC2 |
MaxQBi | Q86YC2 |
PaxDbi | Q86YC2 |
PeptideAtlasi | Q86YC2 |
PRIDEi | Q86YC2 |
ProteomicsDBi | 70395 |
PTM databases
GlyGeni | Q86YC2, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q86YC2 |
PhosphoSitePlusi | Q86YC2 |
Expressioni
Gene expression databases
Bgeei | ENSG00000083093, Expressed in secondary oocyte and 189 other tissues |
ExpressionAtlasi | Q86YC2, baseline and differential |
Genevisiblei | Q86YC2, HS |
Organism-specific databases
HPAi | ENSG00000083093, Low tissue specificity |
Interactioni
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 PublicationsBinary interactionsi
Q86YC2
Protein-protein interaction databases
BioGRIDi | 122843, 78 interactors |
ComplexPortali | CPX-845, BRCA1-PALB2-BRCA2 homologous recombination DNA repair complex |
DIPi | DIP-38427N |
ELMi | Q86YC2 |
IntActi | Q86YC2, 39 interactors |
MINTi | Q86YC2 |
STRINGi | 9606.ENSP00000261584 |
Miscellaneous databases
RNActi | Q86YC2, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q86YC2 |
SMRi | Q86YC2 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q86YC2 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 854 – 915 | WD 1Add BLAST | 62 | |
Repeati | 917 – 961 | WD 2Add BLAST | 45 | |
Repeati | 962 – 1009 | WD 3Add BLAST | 48 | |
Repeati | 1010 – 1052 | WD 4Add BLAST | 43 | |
Repeati | 1058 – 1109 | WD 5Add BLAST | 52 | |
Repeati | 1115 – 1153 | WD 6Add BLAST | 39 | |
Repeati | 1155 – 1186 | WD 7Add BLAST | 32 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 579 | DNA-binding (with the preference D loop > dsDNA > ssDNA)Add BLAST | 579 | |
Regioni | 1 – 319 | Interaction with BRCA11 PublicationAdd BLAST | 319 | |
Regioni | 1 – 200 | Interaction with RAD51Add BLAST | 200 | |
Regioni | 1 – 160 | Required for its oligomerization and is important for its focal concentration at DNA damage sitesAdd BLAST | 160 | |
Regioni | 52 – 72 | DisorderedSequence analysisAdd BLAST | 21 | |
Regioni | 95 – 157 | DisorderedSequence analysisAdd BLAST | 63 | |
Regioni | 252 – 273 | DisorderedSequence analysisAdd BLAST | 22 | |
Regioni | 346 – 365 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 395 – 446 | ChAM (Chromatin-association motif); required for chromatin association, mediates nucleosome associationAdd BLAST | 52 | |
Regioni | 440 – 525 | DisorderedSequence analysisAdd BLAST | 86 | |
Regioni | 679 – 698 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 774 – 798 | DisorderedSequence analysisAdd BLAST | 25 | |
Regioni | 775 – 1186 | Required for interaction with POLH and POLH DNA synthesis stimulation1 PublicationAdd BLAST | 412 | |
Regioni | 853 – 1186 | Interaction with RAD51, BRCA2 and POLH1 PublicationAdd BLAST | 334 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 9 – 41 | Sequence analysisAdd BLAST | 33 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 123 – 144 | Basic and acidic residuesSequence analysisAdd BLAST | 22 | |
Compositional biasi | 446 – 495 | Polar residuesSequence analysisAdd BLAST | 50 | |
Compositional biasi | 684 – 698 | Polar residuesSequence analysisAdd BLAST | 15 |
Domaini
Keywords - Domaini
Coiled coil, Repeat, WD repeatPhylogenomic databases
eggNOGi | ENOG502QRAP, Eukaryota |
GeneTreei | ENSGT00390000014423 |
HOGENOMi | CLU_008217_0_0_1 |
InParanoidi | Q86YC2 |
OMAi | GHCQKED |
OrthoDBi | 710645at2759 |
PhylomeDBi | Q86YC2 |
TreeFami | TF351544 |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
IDEALi | IID00249 |
InterProi | View protein in InterPro IPR042417, PALB2 IPR031920, PALB2_WD40 IPR015943, WD40/YVTN_repeat-like_dom_sf IPR036322, WD40_repeat_dom_sf |
PANTHERi | PTHR14662, PTHR14662, 1 hit |
Pfami | View protein in Pfam PF16756, PALB2_WD40, 1 hit |
SUPFAMi | SSF50978, SSF50978, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH3BN63 | H3BN63_HUMAN | Partner and localizer of BRCA2 | PALB2 FLJ21816, hCG_1986920 | 891 | Annotation score: | ||
I3L3R6 | I3L3R6_HUMAN | Partner and localizer of BRCA2 | PALB2 | 89 | Annotation score: | ||
I3L1Z5 | I3L1Z5_HUMAN | Partner and localizer of BRCA2 | PALB2 | 43 | Annotation score: | ||
I3L2S5 | I3L2S5_HUMAN | Partner and localizer of BRCA2 | PALB2 | 30 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079842 | 18 | K → R Decreases double-stranded DNA break-initiated homologous recombination. 1 PublicationCorresponds to variant dbSNP:rs138789658EnsemblClinVar. | 1 | |
Natural variantiVAR_079843 | 28 | Y → 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_079844 | 35 | L → 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_079845 | 37 | R → H Decreases double-stranded DNA break-initiated homologous recombination. 1 PublicationCorresponds to variant dbSNP:rs202194596EnsemblClinVar. | 1 | |
Natural variantiVAR_066361 | 46 | H → Y1 Publication | 1 | |
Natural variantiVAR_066362 | 219 | D → G1 PublicationCorresponds to variant dbSNP:rs45594034EnsemblClinVar. | 1 | |
Natural variantiVAR_032959 | 309 | I → V. Corresponds to variant dbSNP:rs3809683EnsemblClinVar. | 1 | |
Natural variantiVAR_066363 | 334 | Y → C1 PublicationCorresponds to variant dbSNP:rs200620434EnsemblClinVar. | 1 | |
Natural variantiVAR_066364 | 337 | L → S1 PublicationCorresponds to variant dbSNP:rs45494092EnsemblClinVar. | 1 | |
Natural variantiVAR_066365 | 414 | R → Q1 PublicationCorresponds to variant dbSNP:rs749461008EnsemblClinVar. | 1 | |
Natural variantiVAR_066366 | 425 | V → M1 PublicationCorresponds to variant dbSNP:rs576081828EnsemblClinVar. | 1 | |
Natural variantiVAR_066367 | 491 | A → T1 PublicationCorresponds to variant dbSNP:rs577969558EnsemblClinVar. | 1 | |
Natural variantiVAR_066368 | 515 | K → R1 PublicationCorresponds to variant dbSNP:rs515726072EnsemblClinVar. | 1 | |
Natural variantiVAR_066369 | 559 | Q → R1 PublicationCorresponds to variant dbSNP:rs152451EnsemblClinVar. | 1 | |
Natural variantiVAR_066370 | 672 | E → Q1 PublicationCorresponds to variant dbSNP:rs45532440EnsemblClinVar. | 1 | |
Natural variantiVAR_066371 | 712 | A → V1 PublicationCorresponds to variant dbSNP:rs141458731EnsemblClinVar. | 1 | |
Natural variantiVAR_066372 | 728 | F → L1 Publication | 1 | |
Natural variantiVAR_054150 | 864 | P → S2 PublicationsCorresponds to variant dbSNP:rs45568339EnsemblClinVar. | 1 | |
Natural variantiVAR_066373 | 917 | V → A1 PublicationCorresponds to variant dbSNP:rs763645981EnsemblClinVar. | 1 | |
Natural variantiVAR_066374 | 932 | V → M1 PublicationCorresponds to variant dbSNP:rs45624036EnsemblClinVar. | 1 | |
Natural variantiVAR_066375 | 939 | L → 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_066376 | 966 | I → V1 PublicationCorresponds to variant dbSNP:rs786204248EnsemblClinVar. | 1 | |
Natural variantiVAR_066377 | 998 | G → E May be associated with breast cancer susceptibility. 1 PublicationCorresponds to variant dbSNP:rs45551636EnsemblClinVar. | 1 | |
Natural variantiVAR_066378 | 1025 | A → T1 PublicationCorresponds to variant dbSNP:rs746872839EnsemblClinVar. | 1 | |
Natural variantiVAR_066379 | 1043 | G → 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_066380 | 1075 | S → G1 Publication | 1 | |
Natural variantiVAR_066381 | 1105 | V → A1 Publication | 1 | |
Natural variantiVAR_066382 | 1114 | Q → H1 PublicationCorresponds to variant dbSNP:rs1567206753EnsemblClinVar. | 1 | |
Natural variantiVAR_066383 | 1143 | L → P May be associated with breast cancer susceptibility. 2 PublicationsCorresponds to variant dbSNP:rs62625284EnsemblClinVar. | 1 | |
Natural variantiVAR_066384 | 1170 | H → Y1 PublicationCorresponds to variant dbSNP:rs200283306EnsemblClinVar. | 1 |
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 |
CCDSi | CCDS32406.1 |
RefSeqi | NP_078951.2, NM_024675.3 |
Genome annotation databases
Ensembli | ENST00000261584.9; ENSP00000261584.4; ENSG00000083093.10 |
GeneIDi | 79728 |
KEGGi | hsa:79728 |
MANE-Selecti | ENST00000261584.9; ENSP00000261584.4; NM_024675.4; NP_078951.2 |
UCSCi | uc002dlx.2, human |
Similar proteinsi
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 |
CCDSi | CCDS32406.1 |
RefSeqi | NP_078951.2, NM_024675.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2W18 | X-ray | 1.90 | A | 835-1186 | [»] | |
3EU7 | X-ray | 2.20 | A | 835-1186 | [»] | |
AlphaFoldDBi | Q86YC2 | |||||
SMRi | Q86YC2 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 122843, 78 interactors |
ComplexPortali | CPX-845, BRCA1-PALB2-BRCA2 homologous recombination DNA repair complex |
DIPi | DIP-38427N |
ELMi | Q86YC2 |
IntActi | Q86YC2, 39 interactors |
MINTi | Q86YC2 |
STRINGi | 9606.ENSP00000261584 |
PTM databases
GlyGeni | Q86YC2, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q86YC2 |
PhosphoSitePlusi | Q86YC2 |
Genetic variation databases
BioMutai | PALB2 |
DMDMi | 74727919 |
Proteomic databases
CPTACi | CPTAC-3284 |
EPDi | Q86YC2 |
jPOSTi | Q86YC2 |
MassIVEi | Q86YC2 |
MaxQBi | Q86YC2 |
PaxDbi | Q86YC2 |
PeptideAtlasi | Q86YC2 |
PRIDEi | Q86YC2 |
ProteomicsDBi | 70395 |
Protocols and materials databases
Antibodypediai | 26008, 239 antibodies from 35 providers |
CPTCi | Q86YC2, 1 antibody |
DNASUi | 79728 |
Genome annotation databases
Ensembli | ENST00000261584.9; ENSP00000261584.4; ENSG00000083093.10 |
GeneIDi | 79728 |
KEGGi | hsa:79728 |
MANE-Selecti | ENST00000261584.9; ENSP00000261584.4; NM_024675.4; NP_078951.2 |
UCSCi | uc002dlx.2, human |
Organism-specific databases
CTDi | 79728 |
DisGeNETi | 79728 |
GeneCardsi | PALB2 |
GeneReviewsi | PALB2 |
HGNCi | HGNC:26144, PALB2 |
HPAi | ENSG00000083093, Low tissue specificity |
MalaCardsi | PALB2 |
MIMi | 114480, phenotype 610355, gene 610832, phenotype 613348, phenotype |
neXtProti | NX_Q86YC2 |
OpenTargetsi | ENSG00000083093 |
Orphaneti | 1333, Familial pancreatic carcinoma 84, Fanconi anemia 145, Hereditary breast and ovarian cancer syndrome 227535, Hereditary breast cancer |
PharmGKBi | PA162398608 |
VEuPathDBi | HostDB:ENSG00000083093 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QRAP, Eukaryota |
GeneTreei | ENSGT00390000014423 |
HOGENOMi | CLU_008217_0_0_1 |
InParanoidi | Q86YC2 |
OMAi | GHCQKED |
OrthoDBi | 710645at2759 |
PhylomeDBi | Q86YC2 |
TreeFami | TF351544 |
Enzyme and pathway databases
PathwayCommonsi | Q86YC2 |
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 |
SignaLinki | Q86YC2 |
SIGNORi | Q86YC2 |
Miscellaneous databases
BioGRID-ORCSi | 79728, 209 hits in 1085 CRISPR screens |
ChiTaRSi | PALB2, human |
EvolutionaryTracei | Q86YC2 |
GeneWikii | PALB2 |
GenomeRNAii | 79728 |
Pharosi | Q86YC2, Tbio |
PROi | PR:Q86YC2 |
RNActi | Q86YC2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000083093, Expressed in secondary oocyte and 189 other tissues |
ExpressionAtlasi | Q86YC2, baseline and differential |
Genevisiblei | Q86YC2, HS |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
IDEALi | IID00249 |
InterProi | View protein in InterPro IPR042417, PALB2 IPR031920, PALB2_WD40 IPR015943, WD40/YVTN_repeat-like_dom_sf IPR036322, WD40_repeat_dom_sf |
PANTHERi | PTHR14662, PTHR14662, 1 hit |
Pfami | View protein in Pfam PF16756, PALB2_WD40, 1 hit |
SUPFAMi | SSF50978, SSF50978, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | PALB2_HUMAN | |
Accessioni | Q86YC2Primary (citable) accession number: Q86YC2 Secondary accession number(s): A6NIE1 Q9H6W1 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references