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Protein

Partner and localizer of BRCA2

Gene

Palb2

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript 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 (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

  • chromosome breakage Source: MGI
  • double-strand break repair via homologous recombination Source: UniProtKB
  • embryonic organ development Source: MGI
  • inner cell mass cell proliferation Source: MGI
  • in utero embryonic development Source: MGI
  • mesoderm development Source: MGI
  • multicellular organism growth Source: MGI
  • negative regulation of apoptotic process Source: MGI
  • organ morphogenesis Source: MGI
  • post-anal tail morphogenesis Source: MGI
  • somitogenesis Source: MGI
Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA recombination, DNA repair

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_290303. Fanconi Anemia pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Partner and localizer of BRCA2
Gene namesi
Name:Palb2
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589 Componenti: Chromosome 7

Organism-specific databases

MGIiMGI:3040695. Palb2.

Subcellular locationi

  • Nucleus

  • Note: Colocalizes with BRCA2 in nuclear foci.By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Keywords - Diseasei

Tumor suppressor

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11041104Partner and localizer of BRCA2PRO_0000252392Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei364 – 3641PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PRIDEiQ3U0P1.

PTM databases

PhosphoSiteiQ3U0P1.

Expressioni

Gene expression databases

BgeeiQ3U0P1.
CleanExiMM_PALB2.
ExpressionAtlasiQ3U0P1. baseline and differential.
GenevestigatoriQ3U0P1.

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 (By similarity).By similarity

Structurei

3D structure databases

ProteinModelPortaliQ3U0P1.
SMRiQ3U0P1. Positions 772-1103.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati772 – 83362WD 1Add
BLAST
Repeati835 – 87945WD 2Add
BLAST
Repeati880 – 92748WD 3Add
BLAST
Repeati928 – 97043WD 4Add
BLAST
Repeati976 – 102752WD 5Add
BLAST
Repeati1033 – 107139WD 6Add
BLAST
Repeati1073 – 110432WD 7Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 308308Interaction with BRCA1By similarityAdd
BLAST
Regioni1 – 195195Interaction with RAD51By similarityAdd
BLAST
Regioni1 – 157157Required for its oligomerization and is important for its focal concentration at DNA damage sitesBy similarityAdd
BLAST
Regioni374 – 42451ChAM (Chromatin-association motif); required for chromatin association, mediates nucleosome associationBy similarityAdd
BLAST
Regioni693 – 1104412Required for interaction with POLH and POLH DNA synthesis stimulationBy similarityAdd
BLAST
Regioni771 – 1104334Interaction with RAD51 and BRCA2By similarityAdd
BLAST
Regioni771 – 1104334Interaction with RAD51, BRCA2 and POLHBy similarityAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili9 – 4840Sequence AnalysisAdd
BLAST

Domaini

Interaction with BRCA2 occurs through a hydrophobic pocket at the crossover between WD repeats 4 and 5.By similarity
The coiled coil domain mediates self-association.
The chromatin-association motif (ChAM) mediates association with chromatin, probably through nucleosome core particles, independently from binding to D loop, ssDNA or dsDNA structures.

Sequence similaritiesi

Contains 7 WD repeats.Curated

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

eggNOGiNOG73403.
GeneTreeiENSGT00390000014423.
HOGENOMiHOG000115428.
HOVERGENiHBG082102.
InParanoidiQ3U0P1.
KOiK10897.
OMAiNIVIWNL.
OrthoDBiEOG72C51Z.
PhylomeDBiQ3U0P1.
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. 3 hits.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q3U0P1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEELSGKPLS YAEKEKLKEK LAFLKKEYSR TLARLQRAKR AEKAKNSKKA
60 70 80 90 100
IEDGVPQPEA SSQLSHSESI NKGFPCDTLQ SNHLDEETGE NISQILDVEP
110 120 130 140 150
QSFNCKQGKE VLHTPRAGDI QGQLLHSTSS PDGKKEQNTL PGTTKTPWEK
160 170 180 190 200
SSVSQEKEDY FDTNSLALLG KHRKGQESIS RKNSRTPVSE KTHLLSLRSQ
210 220 230 240 250
IPDPPALVTG IGEGILIPPS GKSERGIDTL VRGNTVSAEA AVPSCTASNS
260 270 280 290 300
NHSQHLEHTP PKSGCKITTQ GPASSTNLVA QDQKMTIFTV NSVVYKAVRA
310 320 330 340 350
HGQLPGSPNS CSVNDLTHSN LPANSTPNSK SLKSPSNTVD ERNEPLQEDE
360 370 380 390 400
ILGPSKNFNL AAVSPPSTES QIHSCTMLEG LLFPAEYYVR TTRRMSDCQR
410 420 430 440 450
KIALEAVIQS HLGVKKKELK KKTKATKAVV LSSEDTDQSE SGMLDTSTGQ
460 470 480 490 500
SSSGSLSQKL LSPAEVSSPP GPAGKATTPP PGRGHRGKRK SARTSTLGHC
510 520 530 540 550
QLLFPPCAAL AVNRSKGKFT KHKCQNRGVV IHDFELPDED FGLLKLEKLK
560 570 580 590 600
SCSEKLIESP DSKNCGERLP REGNHAALEE LQRDSETEGL EEELTVPPGE
610 620 630 640 650
AYRPGPTLRR QPGSKDLSSS IVLFTPADTA APNDSGRPPP SLCSPAFPIL
660 670 680 690 700
GMTPALGSQA AGETLSTEAA QPCSTSQPPL LGDTNSLVNN SKQCNSSACS
710 720 730 740 750
PKPDTNLQAS GRQGQPACDS DSGPQATPLP VESFTFRENQ LCGNACLELH
760 770 780 790 800
EHSTEQTETA DRPACDNLNP GNLQLVSELK NPSSSCSVDV SAMWWERAGA
810 820 830 840 850
KEPCIVTACE DVVSLWKPLN SLQWEKVHTW HFTEVPVLQI VPVPDVYNLI
860 870 880 890 900
CVALGSLEIR EIRALLCSSG DDSEKQVLLK SGDIKAMLGL TKRRLVSSTG
910 920 930 940 950
TFCNQQIQIM TFADDGSSKD EQLLMPPDET VLTFAEVQGT QEALLGTTTV
960 970 980 990 1000
NSIVIWNLKT GQLLKKMHID DSYQASVCHG AYSEKGLLFV VVSQPCAKES
1010 1020 1030 1040 1050
QALGSPVFQL LVINPKTAQS VGVLLCSLPQ GQAGRFLEGD VKDHVAAAVL
1060 1070 1080 1090 1100
TSGTIAIWDL LLGHCTALLP PVSDQSWSLV KWSGTDSHLL AGQKDGNIFI

YRYF
Length:1,104
Mass (Da):119,097
Last modified:October 17, 2006 - v2
Checksum:iD8E027609707D03D
GO
Isoform 2 (identifier: Q3U0P1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     170-532: Missing.

Note: No experimental confirmation available.

Show »
Length:741
Mass (Da):80,495
Checksum:iA931115C63372E41
GO
Isoform 3 (identifier: Q3U0P1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     36-755: Missing.

Note: No experimental confirmation available.

Show »
Length:384
Mass (Da):42,138
Checksum:i36E8A26E61ED1C38
GO
Isoform 4 (identifier: Q3U0P1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     533-544: DFELPDEDFGLL → GKSRRRVRLRLM
     545-1104: Missing.

Note: No experimental confirmation available.

Show »
Length:544
Mass (Da):58,971
Checksum:i7B49F932BFEDA83A
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei36 – 755720Missing in isoform 3. 1 PublicationVSP_020928Add
BLAST
Alternative sequencei170 – 532363Missing in isoform 2. 1 PublicationVSP_020929Add
BLAST
Alternative sequencei533 – 54412DFELP…DFGLL → GKSRRRVRLRLM in isoform 4. 1 PublicationVSP_020930Add
BLAST
Alternative sequencei545 – 1104560Missing in isoform 4. 1 PublicationVSP_020931Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK028653 mRNA. Translation: BAC26048.1.
AK156701 mRNA. Translation: BAE33811.1.
BC055302 mRNA. Translation: AAH55302.1.
BC066140 mRNA. Translation: AAH66140.1.
CCDSiCCDS40117.1. [Q3U0P1-1]
CCDS72035.1. [Q3U0P1-2]
RefSeqiNP_001074707.1. NM_001081238.2. [Q3U0P1-1]
NP_001276771.1. NM_001289842.1.
NP_001276772.1. NM_001289843.1.
NP_001276773.1. NM_001289844.1. [Q3U0P1-2]
NP_001276774.1. NM_001289845.1. [Q3U0P1-3]
UniGeneiMm.38348.
Mm.402473.

Genome annotation databases

EnsembliENSMUST00000063587; ENSMUSP00000063514; ENSMUSG00000044702. [Q3U0P1-3]
ENSMUST00000098068; ENSMUSP00000095675; ENSMUSG00000044702. [Q3U0P1-1]
ENSMUST00000106469; ENSMUSP00000102077; ENSMUSG00000044702. [Q3U0P1-2]
ENSMUST00000130149; ENSMUSP00000121994; ENSMUSG00000044702. [Q3U0P1-4]
GeneIDi233826.
KEGGimmu:233826.
UCSCiuc009joj.1. mouse. [Q3U0P1-1]
uc009jom.1. mouse. [Q3U0P1-4]
uc012ftg.1. mouse. [Q3U0P1-2]
uc012fth.1. mouse. [Q3U0P1-3]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK028653 mRNA. Translation: BAC26048.1.
AK156701 mRNA. Translation: BAE33811.1.
BC055302 mRNA. Translation: AAH55302.1.
BC066140 mRNA. Translation: AAH66140.1.
CCDSiCCDS40117.1. [Q3U0P1-1]
CCDS72035.1. [Q3U0P1-2]
RefSeqiNP_001074707.1. NM_001081238.2. [Q3U0P1-1]
NP_001276771.1. NM_001289842.1.
NP_001276772.1. NM_001289843.1.
NP_001276773.1. NM_001289844.1. [Q3U0P1-2]
NP_001276774.1. NM_001289845.1. [Q3U0P1-3]
UniGeneiMm.38348.
Mm.402473.

3D structure databases

ProteinModelPortaliQ3U0P1.
SMRiQ3U0P1. Positions 772-1103.
ModBaseiSearch...
MobiDBiSearch...

PTM databases

PhosphoSiteiQ3U0P1.

Proteomic databases

PRIDEiQ3U0P1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000063587; ENSMUSP00000063514; ENSMUSG00000044702. [Q3U0P1-3]
ENSMUST00000098068; ENSMUSP00000095675; ENSMUSG00000044702. [Q3U0P1-1]
ENSMUST00000106469; ENSMUSP00000102077; ENSMUSG00000044702. [Q3U0P1-2]
ENSMUST00000130149; ENSMUSP00000121994; ENSMUSG00000044702. [Q3U0P1-4]
GeneIDi233826.
KEGGimmu:233826.
UCSCiuc009joj.1. mouse. [Q3U0P1-1]
uc009jom.1. mouse. [Q3U0P1-4]
uc012ftg.1. mouse. [Q3U0P1-2]
uc012fth.1. mouse. [Q3U0P1-3]

Organism-specific databases

CTDi79728.
MGIiMGI:3040695. Palb2.

Phylogenomic databases

eggNOGiNOG73403.
GeneTreeiENSGT00390000014423.
HOGENOMiHOG000115428.
HOVERGENiHBG082102.
InParanoidiQ3U0P1.
KOiK10897.
OMAiNIVIWNL.
OrthoDBiEOG72C51Z.
PhylomeDBiQ3U0P1.
TreeFamiTF351544.

Enzyme and pathway databases

ReactomeiREACT_290303. Fanconi Anemia pathway.

Miscellaneous databases

ChiTaRSiPalb2. mouse.
NextBioi381867.
PROiQ3U0P1.
SOURCEiSearch...

Gene expression databases

BgeeiQ3U0P1.
CleanExiMM_PALB2.
ExpressionAtlasiQ3U0P1. baseline and differential.
GenevestigatoriQ3U0P1.

Family and domain databases

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

Publicationsi

  1. "The transcriptional landscape of the mammalian genome."
    Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
    , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
    Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1086 (ISOFORM 1).
    Strain: C57BL/6J and NOD.
    Tissue: Skin and Spleen.
  2. "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] (ISOFORMS 2 AND 3).
    Strain: C57BL/6J and FVB/N-3.
    Tissue: Embryonic germ cell and Mammary tumor.

Entry informationi

Entry nameiPALB2_MOUSE
AccessioniPrimary (citable) accession number: Q3U0P1
Secondary accession number(s): Q6NZG9, Q7TMQ4, Q8CEA9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 17, 2006
Last modified: May 27, 2015
This is version 84 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.