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Q3U0P1

- PALB2_MOUSE

UniProt

Q3U0P1 - PALB2_MOUSE

Protein

Partner and localizer of BRCA2

Gene

Palb2

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 77 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    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

    1. DNA binding Source: UniProtKB

    GO - Biological processi

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

    Keywords - Biological processi

    DNA damage, DNA recombination, DNA repair

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

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

    Organism-specific databases

    MGIiMGI:3040695. Palb2.

    Subcellular locationi

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

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    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

    ArrayExpressiQ3U0P1.
    BgeeiQ3U0P1.
    CleanExiMM_PALB2.
    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. Align

    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

    MEELSGKPLS YAEKEKLKEK LAFLKKEYSR TLARLQRAKR AEKAKNSKKA     50
    IEDGVPQPEA SSQLSHSESI NKGFPCDTLQ SNHLDEETGE NISQILDVEP 100
    QSFNCKQGKE VLHTPRAGDI QGQLLHSTSS PDGKKEQNTL PGTTKTPWEK 150
    SSVSQEKEDY FDTNSLALLG KHRKGQESIS RKNSRTPVSE KTHLLSLRSQ 200
    IPDPPALVTG IGEGILIPPS GKSERGIDTL VRGNTVSAEA AVPSCTASNS 250
    NHSQHLEHTP PKSGCKITTQ GPASSTNLVA QDQKMTIFTV NSVVYKAVRA 300
    HGQLPGSPNS CSVNDLTHSN LPANSTPNSK SLKSPSNTVD ERNEPLQEDE 350
    ILGPSKNFNL AAVSPPSTES QIHSCTMLEG LLFPAEYYVR TTRRMSDCQR 400
    KIALEAVIQS HLGVKKKELK KKTKATKAVV LSSEDTDQSE SGMLDTSTGQ 450
    SSSGSLSQKL LSPAEVSSPP GPAGKATTPP PGRGHRGKRK SARTSTLGHC 500
    QLLFPPCAAL AVNRSKGKFT KHKCQNRGVV IHDFELPDED FGLLKLEKLK 550
    SCSEKLIESP DSKNCGERLP REGNHAALEE LQRDSETEGL EEELTVPPGE 600
    AYRPGPTLRR QPGSKDLSSS IVLFTPADTA APNDSGRPPP SLCSPAFPIL 650
    GMTPALGSQA AGETLSTEAA QPCSTSQPPL LGDTNSLVNN SKQCNSSACS 700
    PKPDTNLQAS GRQGQPACDS DSGPQATPLP VESFTFRENQ LCGNACLELH 750
    EHSTEQTETA DRPACDNLNP GNLQLVSELK NPSSSCSVDV SAMWWERAGA 800
    KEPCIVTACE DVVSLWKPLN SLQWEKVHTW HFTEVPVLQI VPVPDVYNLI 850
    CVALGSLEIR EIRALLCSSG DDSEKQVLLK SGDIKAMLGL TKRRLVSSTG 900
    TFCNQQIQIM TFADDGSSKD EQLLMPPDET VLTFAEVQGT QEALLGTTTV 950
    NSIVIWNLKT GQLLKKMHID DSYQASVCHG AYSEKGLLFV VVSQPCAKES 1000
    QALGSPVFQL LVINPKTAQS VGVLLCSLPQ GQAGRFLEGD VKDHVAAAVL 1050
    TSGTIAIWDL LLGHCTALLP PVSDQSWSLV KWSGTDSHLL AGQKDGNIFI 1100
    YRYF 1104
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK028653 mRNA. Translation: BAC26048.1 .
    AK156701 mRNA. Translation: BAE33811.1 .
    BC055302 mRNA. Translation: AAH55302.1 .
    BC066140 mRNA. Translation: AAH66140.1 .
    CCDSi CCDS40117.1. [Q3U0P1-1 ]
    CCDS72035.1. [Q3U0P1-2 ]
    RefSeqi NP_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 ]
    UniGenei Mm.38348.
    Mm.402473.

    3D structure databases

    ProteinModelPortali Q3U0P1.
    SMRi Q3U0P1. Positions 772-1103.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q3U0P1.

    Proteomic databases

    PRIDEi Q3U0P1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000063587 ; ENSMUSP00000063514 ; ENSMUSG00000044702 . [Q3U0P1-3 ]
    ENSMUST00000098068 ; ENSMUSP00000095675 ; ENSMUSG00000044702 . [Q3U0P1-1 ]
    ENSMUST00000106469 ; ENSMUSP00000102077 ; ENSMUSG00000044702 . [Q3U0P1-2 ]
    ENSMUST00000130149 ; ENSMUSP00000121994 ; ENSMUSG00000044702 . [Q3U0P1-4 ]
    GeneIDi 233826.
    KEGGi mmu:233826.
    UCSCi uc009joj.1. mouse. [Q3U0P1-1 ]
    uc009jom.1. mouse. [Q3U0P1-4 ]
    uc012ftg.1. mouse. [Q3U0P1-2 ]
    uc012fth.1. mouse. [Q3U0P1-3 ]

    Organism-specific databases

    CTDi 79728.
    MGIi MGI:3040695. Palb2.

    Phylogenomic databases

    eggNOGi NOG73403.
    GeneTreei ENSGT00390000014423.
    HOGENOMi HOG000115428.
    HOVERGENi HBG082102.
    InParanoidi Q3U0P1.
    KOi K10897.
    OMAi NIVIWNL.
    OrthoDBi EOG72C51Z.
    PhylomeDBi Q3U0P1.
    TreeFami TF351544.

    Miscellaneous databases

    ChiTaRSi PALB2. mouse.
    NextBioi 381867.
    PROi Q3U0P1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q3U0P1.
    Bgeei Q3U0P1.
    CleanExi MM_PALB2.
    Genevestigatori Q3U0P1.

    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. 3 hits.
    ProtoNeti Search...

    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: October 1, 2014
    This is version 77 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