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Q86YC2

- PALB2_HUMAN

UniProt

Q86YC2 - PALB2_HUMAN

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Protein

Partner and localizer of BRCA2

Gene

PALB2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks. Strongly stimulates the DNA strand-invasion activity of RAD51, stabilizes the nucleoprotein filament against a disruptive BRC3-BRC4 polypeptide and helps RAD51 to overcome the suppressive effect of replication protein A (RPA). Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51. Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination. Via its WD repeats is proposed to scaffold a HR complex containing RAD51C and BRCA2 which is thought to play a role in HR-mediated DNA repair. Essential partner of BRCA2 that promotes the localization and stability of BRCA2. Also enables its recombinational repair and checkpoint functions of BRCA2. May act by promoting stable association of BRCA2 with nuclear structures, allowing BRCA2 to escape the effects of proteasome-mediated degradation. Binds DNA with high affinity for D loop, which comprises single-stranded, double-stranded and branched DNA structures. 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.8 Publications

GO - Molecular functioni

  1. DNA binding Source: UniProtKB

GO - Biological processi

  1. DNA repair Source: Reactome
  2. double-strand break repair via homologous recombination Source: UniProtKB
  3. inner cell mass cell proliferation Source: Ensembl
  4. mesoderm development Source: Ensembl
  5. negative regulation of apoptotic process Source: Ensembl
  6. organ morphogenesis Source: Ensembl
  7. post-anal tail morphogenesis Source: Ensembl
  8. somitogenesis Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA recombination, DNA repair

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_18410. Fanconi Anemia pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Partner and localizer of BRCA2
Gene namesi
Name:PALB2
Synonyms:FANCN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:26144. PALB2.

Subcellular locationi

Nucleus 1 Publication
Note: Colocalizes with BRCA2 in nuclear foci.

GO - Cellular componenti

  1. nucleoplasm Source: Reactome
  2. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Breast cancer (BC) [MIM:114480]: A 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.2 Publications
Note: 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
Fanconi anemia complementation group N (FANCN) [MIM:610832]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Pancreatic cancer 3 (PNCA3) [MIM:613348]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi14 – 141K → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication
Mutagenesisi21 – 211L → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication
Mutagenesisi28 – 281Y → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication
Mutagenesisi35 – 351L → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication
Mutagenesisi42 – 421E → A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2. 1 Publication
Mutagenesisi1030 – 10301T → I: Unstable and promotes protein degradation; reduces interaction with RAD51C and RAD51. 1 Publication

Keywords - Diseasei

Fanconi anemia, Tumor suppressor

Organism-specific databases

MIMi114480. phenotype.
227650. phenotype.
610832. phenotype.
613348. phenotype.
Orphaneti1333. Familial pancreatic carcinoma.
84. Fanconi anemia.
145. Hereditary breast and ovarian cancer syndrome.
PharmGKBiPA162398608.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11861186Partner and localizer of BRCA2PRO_0000252391Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei376 – 3761Phosphoserine2 Publications
Modified residuei387 – 3871Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ86YC2.
PaxDbiQ86YC2.
PRIDEiQ86YC2.

PTM databases

PhosphoSiteiQ86YC2.

Expressioni

Gene expression databases

BgeeiQ86YC2.
CleanExiHS_PALB2.
ExpressionAtlasiQ86YC2. baseline and differential.
GenevestigatoriQ86YC2.

Organism-specific databases

HPAiCAB014895.
HPA057000.

Interactioni

Subunit structurei

Homooligomer; dissociated upon DNA damage thus allowing association with BRCA1. Oligomerization is essential for its focal accumulation at DNA breaks. Part of a BRCA complex containing BRCA1, BRCA2 and PALB2. Interacts with BRCA1 and this interaction is essential for its function in HRR. Interacts with RAD51AP1 and MORF4L1/MRG15. 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. Interacts with POLH; the interaction is direct.9 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BRCA2P5158715EBI-1222653,EBI-79792
POLHQ9Y2537EBI-1222653,EBI-2827270
RAD51Q066095EBI-1222653,EBI-297202
RAD51CO4350210EBI-1222653,EBI-2267048
XRCC3O435423EBI-1222653,EBI-2849976

Protein-protein interaction databases

BioGridi122843. 12 interactions.
DIPiDIP-38427N.
IntActiQ86YC2. 11 interactions.
MINTiMINT-7262182.
STRINGi9606.ENSP00000261584.

Structurei

Secondary structure

1
1186
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi855 – 8617Combined sources
Beta strandi869 – 8779Combined sources
Beta strandi884 – 91330Combined sources
Beta strandi919 – 9224Combined sources
Beta strandi932 – 9365Combined sources
Beta strandi938 – 94710Combined sources
Beta strandi958 – 97215Combined sources
Turni973 – 9753Combined sources
Beta strandi976 – 9849Combined sources
Beta strandi988 – 9947Combined sources
Beta strandi1000 – 10067Combined sources
Beta strandi1013 – 10208Combined sources
Beta strandi1025 – 10306Combined sources
Beta strandi1033 – 10397Combined sources
Turni1040 – 10423Combined sources
Beta strandi1045 – 10506Combined sources
Beta strandi1053 – 10553Combined sources
Beta strandi1059 – 10668Combined sources
Beta strandi1069 – 10757Combined sources
Beta strandi1090 – 10967Combined sources
Turni1097 – 11004Combined sources
Beta strandi1101 – 11088Combined sources
Beta strandi1118 – 11247Combined sources
Beta strandi1127 – 11326Combined sources
Beta strandi1137 – 11415Combined sources
Turni1142 – 11443Combined sources
Beta strandi1146 – 11516Combined sources
Beta strandi1161 – 11644Combined sources
Beta strandi1166 – 11749Combined sources
Beta strandi1180 – 11856Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2W18X-ray1.90A835-1186[»]
3EU7X-ray2.20A835-1186[»]
ProteinModelPortaliQ86YC2.
SMRiQ86YC2. Positions 854-1186.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ86YC2.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati854 – 91562WD 1Add
BLAST
Repeati917 – 96145WD 2Add
BLAST
Repeati962 – 100948WD 3Add
BLAST
Repeati1010 – 105243WD 4Add
BLAST
Repeati1058 – 110952WD 5Add
BLAST
Repeati1115 – 115339WD 6Add
BLAST
Repeati1155 – 118632WD 7Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 579579DNA-binding (with the preference D loop > dsDNA > ssDNA)Add
BLAST
Regioni1 – 319319Interaction with BRCA1Add
BLAST
Regioni1 – 200200Interaction with RAD51Add
BLAST
Regioni1 – 160160Required for its oligomerization and is important for its focal concentration at DNA damage sitesAdd
BLAST
Regioni395 – 44652ChAM (Chromatin-association motif); required for chromatin association, mediates nucleosome associationAdd
BLAST
Regioni775 – 1186412Required for interaction with POLH and POLH DNA synthesis stimulationAdd
BLAST
Regioni853 – 1186334Interaction with RAD51, BRCA2 and POLHAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili9 – 4133Sequence AnalysisAdd
BLAST

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

Sequence similaritiesi

Contains 7 WD repeats.Curated

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

eggNOGiNOG73403.
GeneTreeiENSGT00390000014423.
HOGENOMiHOG000115428.
HOVERGENiHBG082102.
InParanoidiQ86YC2.
KOiK10897.
OMAiNIVIWNL.
OrthoDBiEOG72C51Z.
PhylomeDBiQ86YC2.
TreeFamiTF351544.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 2 hits.

Sequencei

Sequence statusi: Complete.

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
Checksum:i215EC32291315FA2
GO

Sequence cautioni

The sequence BAB15140.1 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti46 – 461H → Y.1 Publication
VAR_066361
Natural varianti219 – 2191D → G.1 Publication
VAR_066362
Natural varianti309 – 3091I → V.
Corresponds to variant rs3809683 [ dbSNP | Ensembl ].
VAR_032959
Natural varianti334 – 3341Y → C.1 Publication
VAR_066363
Natural varianti337 – 3371L → S.1 Publication
Corresponds to variant rs45494092 [ dbSNP | Ensembl ].
VAR_066364
Natural varianti414 – 4141R → Q.1 Publication
VAR_066365
Natural varianti425 – 4251V → M.1 Publication
VAR_066366
Natural varianti491 – 4911A → T.1 Publication
VAR_066367
Natural varianti515 – 5151K → R.1 Publication
VAR_066368
Natural varianti559 – 5591Q → R.1 Publication
Corresponds to variant rs152451 [ dbSNP | Ensembl ].
VAR_066369
Natural varianti672 – 6721E → Q.1 Publication
Corresponds to variant rs45532440 [ dbSNP | Ensembl ].
VAR_066370
Natural varianti712 – 7121A → V.1 Publication
Corresponds to variant rs141458731 [ dbSNP | Ensembl ].
VAR_066371
Natural varianti728 – 7281F → L.1 Publication
VAR_066372
Natural varianti864 – 8641P → S.2 Publications
Corresponds to variant rs45568339 [ dbSNP | Ensembl ].
VAR_054150
Natural varianti917 – 9171V → A.1 Publication
VAR_066373
Natural varianti932 – 9321V → M.1 Publication
Corresponds to variant rs45624036 [ dbSNP | Ensembl ].
VAR_066374
Natural varianti939 – 9391L → 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. 1 Publication
Corresponds to variant rs45478192 [ dbSNP | Ensembl ].
VAR_066375
Natural varianti966 – 9661I → V.1 Publication
VAR_066376
Natural varianti998 – 9981G → E May be associated with breast cancer susceptibility. 1 Publication
Corresponds to variant rs45551636 [ dbSNP | Ensembl ].
VAR_066377
Natural varianti1025 – 10251A → T.1 Publication
VAR_066378
Natural varianti1043 – 10431G → 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 Publication
VAR_066379
Natural varianti1075 – 10751S → G.1 Publication
VAR_066380
Natural varianti1105 – 11051V → A.1 Publication
VAR_066381
Natural varianti1114 – 11141Q → H.1 Publication
VAR_066382
Natural varianti1143 – 11431L → P May be associated with breast cancer susceptibility. 1 Publication
VAR_066383
Natural varianti1170 – 11701H → Y.1 Publication
VAR_066384

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.

Genome annotation databases

EnsembliENST00000261584; ENSP00000261584; ENSG00000083093.
GeneIDi79728.
KEGGihsa:79728.
UCSCiuc002dlx.1. human.

Polymorphism databases

DMDMi74727919.

Keywords - Coding sequence diversityi

Polymorphism

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.
UniGenei Hs.444664.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2W18 X-ray 1.90 A 835-1186 [» ]
3EU7 X-ray 2.20 A 835-1186 [» ]
ProteinModelPortali Q86YC2.
SMRi Q86YC2. Positions 854-1186.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122843. 12 interactions.
DIPi DIP-38427N.
IntActi Q86YC2. 11 interactions.
MINTi MINT-7262182.
STRINGi 9606.ENSP00000261584.

PTM databases

PhosphoSitei Q86YC2.

Polymorphism databases

DMDMi 74727919.

Proteomic databases

MaxQBi Q86YC2.
PaxDbi Q86YC2.
PRIDEi Q86YC2.

Protocols and materials databases

DNASUi 79728.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000261584 ; ENSP00000261584 ; ENSG00000083093 .
GeneIDi 79728.
KEGGi hsa:79728.
UCSCi uc002dlx.1. human.

Organism-specific databases

CTDi 79728.
GeneCardsi GC16M023614.
GeneReviewsi PALB2.
HGNCi HGNC:26144. PALB2.
HPAi CAB014895.
HPA057000.
MIMi 114480. phenotype.
227650. phenotype.
610355. gene.
610832. phenotype.
613348. phenotype.
neXtProti NX_Q86YC2.
Orphaneti 1333. Familial pancreatic carcinoma.
84. Fanconi anemia.
145. Hereditary breast and ovarian cancer syndrome.
PharmGKBi PA162398608.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG73403.
GeneTreei ENSGT00390000014423.
HOGENOMi HOG000115428.
HOVERGENi HBG082102.
InParanoidi Q86YC2.
KOi K10897.
OMAi NIVIWNL.
OrthoDBi EOG72C51Z.
PhylomeDBi Q86YC2.
TreeFami TF351544.

Enzyme and pathway databases

Reactomei REACT_18410. Fanconi Anemia pathway.

Miscellaneous databases

EvolutionaryTracei Q86YC2.
GeneWikii PALB2.
GenomeRNAii 79728.
NextBioi 69102.
PROi Q86YC2.
SOURCEi Search...

Gene expression databases

Bgeei Q86YC2.
CleanExi HS_PALB2.
ExpressionAtlasi Q86YC2. baseline and differential.
Genevestigatori Q86YC2.

Family and domain databases

Gene3Di 2.130.10.10. 3 hits.
InterProi IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view ]
SUPFAMi SSF50978. SSF50978. 2 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Endometrium.
  2. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-440 AND 476-1186.
    Tissue: Testis.
  6. "Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2."
    Xia B., Sheng Q., Nakanishi K., Ohashi A., Wu J., Christ N., Liu X., Jasin M., Couch F.J., Livingston D.M.
    Mol. Cell 22:719-729(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY, FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH BRCA2.
  7. Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO BREAST CANCER.
  8. Cited for: INVOLVEMENT IN FANCN.
  9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-376, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Embryonic kidney.
  10. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "PALB2 regulates recombinational repair through chromatin association and oligomerization."
    Sy S.M., Huen M.S., Zhu Y., Chen J.
    J. Biol. Chem. 284:18302-18310(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBUNIT, INTERACTION WITH BRCA2.
  12. "PALB2 is an integral component of the BRCA complex required for homologous recombination repair."
    Sy S.M., Huen M.S., Chen J.
    Proc. Natl. Acad. Sci. U.S.A. 106:7155-7160(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, IDENTIFICATION IN A BRCA COMPLEX WITH BRCA1 AND BRCA2, INTERACTION WITH BRCA1, MUTAGENESIS OF LYS-14; LEU-21; TYR-28; LEU-35 AND GLU-42.
  13. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-387, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  14. Cited for: INVOLVEMENT IN PNCA3.
  15. "MRG15 binds directly to PALB2 and stimulates homology-directed repair of chromosomal breaks."
    Hayakawa T., Zhang F., Hayakawa N., Ohtani Y., Shinmyozu K., Nakayama J., Andreassen P.R.
    J. Cell Sci. 123:1124-1130(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MORF4L1.
  16. "Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination."
    Buisson R., Dion-Cote A.M., Coulombe Y., Launay H., Cai H., Stasiak A.Z., Stasiak A., Xia B., Masson J.Y.
    Nat. Struct. Mol. Biol. 17:1247-1254(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH RAD51.
  17. Cited for: FUNCTION, INTERACTION WITH RAD51 AND RAD51AP1.
  18. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-376, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  19. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  20. "ChAM, a novel motif that mediates PALB2 intrinsic chromatin binding and facilitates DNA repair."
    Bleuyard J.Y., Buisson R., Masson J.Y., Esashi F.
    EMBO Rep. 13:135-141(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: ASSOCIATION WITH CHROMATIN, ASSOCIATION WITH NUCLEOSOMES.
  21. Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO BREAST CANCER.
  22. "PALB2 self-interaction controls homologous recombination."
    Buisson R., Masson J.Y.
    Nucleic Acids Res. 40:10312-10323(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SELF-ASSOCIATION.
  23. "Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair."
    Park J.Y., Singh T.R., Nassar N., Zhang F., Freund M., Hanenberg H., Meetei A.R., Andreassen P.R.
    Oncogene 33:4803-4812(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH BRCA2; RAD51C; RAD51 AND XRCC3, MUTAGENESIS OF THR-1030, CHARACTERIZATION OF VARIANTS TRP-939 AND PRO-1143.
  24. "Breast cancer proteins PALB2 and BRCA2 stimulate polymerase eta in recombination-associated DNA synthesis at blocked replication forks."
    Buisson R., Niraj J., Pauty J., Maity R., Zhao W., Coulombe Y., Sung P., Masson J.Y.
    Cell Rep. 6:553-564(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH POLH.
  25. "Structural basis for recruitment of BRCA2 by PALB2."
    Oliver A.W., Swift S., Lord C.J., Ashworth A., Pearl L.H.
    EMBO Rep. 10:990-996(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 835-1186 ALONE AND IN COMPLEX WITH A BRCA2 PEPTIDE, DOMAIN WD REPEATS.
  26. Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-864.
  27. "Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer."
    Hellebrand H., Sutter C., Honisch E., Gross E., Wappenschmidt B., Schem C., Deissler H., Ditsch N., Gress V., Kiechle M., Bartram C.R., Schmutzler R.K., Niederacher D., Arnold N., Meindl A.
    Hum. Mutat. 32:E2176-E2188(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TYR-46; GLY-219; CYS-334; SER-337; GLN-414; MET-425; THR-491; ARG-515; ARG-559; GLN-672; VAL-712; LEU-728; SER-864; ALA-917; MET-932; TRP-939; VAL-966; GLU-998; THR-1025; ALA-1043; GLY-1075; ALA-1105; HIS-1114; PRO-1143 AND TYR-1170.

Entry informationi

Entry nameiPALB2_HUMAN
AccessioniPrimary (citable) accession number: Q86YC2
Secondary accession number(s): A6NIE1
, Q8N7Y6, Q8ND31, Q9H6W1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: June 1, 2003
Last modified: November 26, 2014
This is version 103 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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
  6. SIMILARITY comments
    Index of protein domains and families

External Data

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