Q3U0P1 (PALB2_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Partner and localizer of BRCA2

Gene names

Name:

Palb2

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	1104 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks. Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination. 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. 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 By similarity.
Subunit structure	Homooligomer. Oligomerization is essential for its focal accumulation at DNA breaks. Part of a trimeric complex containing BRCA1, BRCA2 and PALB2. Interacts with BRCA1 and this interaction is essential for its function in HRR. Interacts with RAD51, BRCA2, RAD51AP1 and MORF4L1/MRG15 By similarity.
Subcellular location	Nucleus. Note: Colocalizes with BRCA2 in nuclear foci By similarity.
Domain	Interaction with BRCA2 occurs through a hydrophobic pocket at the crossover between WD repeats 4 and 5 By similarity.
Sequence similarities	Contains 7 WD repeats.

Ontologies

Keywords
Biological process	DNA damage DNA recombination DNA repair
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Disease	Tumor suppressor
Domain	Coiled coil Repeat WD repeat
Ligand	DNA-binding
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	double-strand break repair via homologous recombination Inferred from sequence or structural similarity. Source: UniProtKB inner cell mass cell proliferation Inferred from mutant phenotype PubMed 20484223. Source: MGI mesoderm development Inferred from mutant phenotype PubMed 20484223. Source: MGI negative regulation of apoptotic process Inferred from mutant phenotype PubMed 21404276. Source: MGI organ morphogenesis Inferred from mutant phenotype PubMed 20484223. Source: MGI post-anal tail morphogenesis Inferred from mutant phenotype PubMed 20484223. Source: MGI somitogenesis Inferred from mutant phenotype PubMed 20484223. Source: MGI
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q3U0P1-1)

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.

Isoform 2 (identifier: Q3U0P1-2)

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

Note: No experimental confirmation available.

Isoform 3 (identifier: Q3U0P1-3)

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

Note: No experimental confirmation available.

Isoform 4 (identifier: Q3U0P1-4)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1104	1104	Partner and localizer of BRCA2		PRO_0000252392
Regions
	Repeat	772 – 833	62	WD 1
	Repeat	835 – 879	45	WD 2
	Repeat	880 – 927	48	WD 3
	Repeat	928 – 970	43	WD 4
	Repeat	976 – 1027	52	WD 5
	Repeat	1033 – 1071	39	WD 6
	Repeat	1073 – 1104	32	WD 7
	Region	1 – 308	308	Interaction with BRCA1 By similarity
	Region	1 – 195	195	Interaction with RAD51 By similarity
	Region	1 – 157	157	Required for its oligomerization and is important for its focal concentration at DNA damage sites By similarity
	Region	771 – 1104	334	Interaction with RAD51 and BRCA2 By similarity
	Coiled coil	9 – 48	40	Potential
Amino acid modifications
	Modified residue	364	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	36 – 755	720	Missing in isoform 3.		VSP_020928
	Alternative sequence	170 – 532	363	Missing in isoform 2.		VSP_020929
	Alternative sequence	533 – 544	12	DFELP…DFGLL → GKSRRRVRLRLM in isoform 4.		VSP_020930
	Alternative sequence	545 – 1104	560	Missing in isoform 4.		VSP_020931

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 17, 2006. Version 2. Checksum: D8E027609707D03D	FASTA	1,104	119,097
	10 20 30 40 50 60 MEELSGKPLS YAEKEKLKEK LAFLKKEYSR TLARLQRAKR AEKAKNSKKA IEDGVPQPEA 70 80 90 100 110 120 SSQLSHSESI NKGFPCDTLQ SNHLDEETGE NISQILDVEP QSFNCKQGKE VLHTPRAGDI 130 140 150 160 170 180 QGQLLHSTSS PDGKKEQNTL PGTTKTPWEK SSVSQEKEDY FDTNSLALLG KHRKGQESIS 190 200 210 220 230 240 RKNSRTPVSE KTHLLSLRSQ IPDPPALVTG IGEGILIPPS GKSERGIDTL VRGNTVSAEA 250 260 270 280 290 300 AVPSCTASNS NHSQHLEHTP PKSGCKITTQ GPASSTNLVA QDQKMTIFTV NSVVYKAVRA 310 320 330 340 350 360 HGQLPGSPNS CSVNDLTHSN LPANSTPNSK SLKSPSNTVD ERNEPLQEDE ILGPSKNFNL 370 380 390 400 410 420 AAVSPPSTES QIHSCTMLEG LLFPAEYYVR TTRRMSDCQR KIALEAVIQS HLGVKKKELK 430 440 450 460 470 480 KKTKATKAVV LSSEDTDQSE SGMLDTSTGQ SSSGSLSQKL LSPAEVSSPP GPAGKATTPP 490 500 510 520 530 540 PGRGHRGKRK SARTSTLGHC QLLFPPCAAL AVNRSKGKFT KHKCQNRGVV IHDFELPDED 550 560 570 580 590 600 FGLLKLEKLK SCSEKLIESP DSKNCGERLP REGNHAALEE LQRDSETEGL EEELTVPPGE 610 620 630 640 650 660 AYRPGPTLRR QPGSKDLSSS IVLFTPADTA APNDSGRPPP SLCSPAFPIL GMTPALGSQA 670 680 690 700 710 720 AGETLSTEAA QPCSTSQPPL LGDTNSLVNN SKQCNSSACS PKPDTNLQAS GRQGQPACDS 730 740 750 760 770 780 DSGPQATPLP VESFTFRENQ LCGNACLELH EHSTEQTETA DRPACDNLNP GNLQLVSELK 790 800 810 820 830 840 NPSSSCSVDV SAMWWERAGA KEPCIVTACE DVVSLWKPLN SLQWEKVHTW HFTEVPVLQI 850 860 870 880 890 900 VPVPDVYNLI CVALGSLEIR EIRALLCSSG DDSEKQVLLK SGDIKAMLGL TKRRLVSSTG 910 920 930 940 950 960 TFCNQQIQIM TFADDGSSKD EQLLMPPDET VLTFAEVQGT QEALLGTTTV NSIVIWNLKT 970 980 990 1000 1010 1020 GQLLKKMHID DSYQASVCHG AYSEKGLLFV VVSQPCAKES QALGSPVFQL LVINPKTAQS 1030 1040 1050 1060 1070 1080 VGVLLCSLPQ GQAGRFLEGD VKDHVAAAVL TSGTIAIWDL LLGHCTALLP PVSDQSWSLV 1090 1100 KWSGTDSHLL AGQKDGNIFI YRYF
	Isoform 2 [UniParc]. Checksum: A931115C63372E41	FASTA	741	80,495
	10 20 30 40 50 60 MEELSGKPLS YAEKEKLKEK LAFLKKEYSR TLARLQRAKR AEKAKNSKKA IEDGVPQPEA 70 80 90 100 110 120 SSQLSHSESI NKGFPCDTLQ SNHLDEETGE NISQILDVEP QSFNCKQGKE VLHTPRAGDI 130 140 150 160 170 180 QGQLLHSTSS PDGKKEQNTL PGTTKTPWEK SSVSQEKEDY FDTNSLALLD FELPDEDFGL 190 200 210 220 230 240 LKLEKLKSCS EKLIESPDSK NCGERLPREG NHAALEELQR DSETEGLEEE LTVPPGEAYR 250 260 270 280 290 300 PGPTLRRQPG SKDLSSSIVL FTPADTAAPN DSGRPPPSLC SPAFPILGMT PALGSQAAGE 310 320 330 340 350 360 TLSTEAAQPC STSQPPLLGD TNSLVNNSKQ CNSSACSPKP DTNLQASGRQ GQPACDSDSG 370 380 390 400 410 420 PQATPLPVES FTFRENQLCG NACLELHEHS TEQTETADRP ACDNLNPGNL QLVSELKNPS 430 440 450 460 470 480 SSCSVDVSAM WWERAGAKEP CIVTACEDVV SLWKPLNSLQ WEKVHTWHFT EVPVLQIVPV 490 500 510 520 530 540 PDVYNLICVA LGSLEIREIR ALLCSSGDDS EKQVLLKSGD IKAMLGLTKR RLVSSTGTFC 550 560 570 580 590 600 NQQIQIMTFA DDGSSKDEQL LMPPDETVLT FAEVQGTQEA LLGTTTVNSI VIWNLKTGQL 610 620 630 640 650 660 LKKMHIDDSY QASVCHGAYS EKGLLFVVVS QPCAKESQAL GSPVFQLLVI NPKTAQSVGV 670 680 690 700 710 720 LLCSLPQGQA GRFLEGDVKD HVAAAVLTSG TIAIWDLLLG HCTALLPPVS DQSWSLVKWS 730 740 GTDSHLLAGQ KDGNIFIYRY F
	Isoform 3 [UniParc]. Checksum: 36E8A26E61ED1C38	FASTA	384	42,138
	10 20 30 40 50 60 MEELSGKPLS YAEKEKLKEK LAFLKKEYSR TLARLQTETA DRPACDNLNP GNLQLVSELK 70 80 90 100 110 120 NPSSSCSVDV SAMWWERAGA KEPCIVTACE DVVSLWKPLN SLQWEKVHTW HFTEVPVLQI 130 140 150 160 170 180 VPVPDVYNLI CVALGSLEIR EIRALLCSSG DDSEKQVLLK SGDIKAMLGL TKRRLVSSTG 190 200 210 220 230 240 TFCNQQIQIM TFADDGSSKD EQLLMPPDET VLTFAEVQGT QEALLGTTTV NSIVIWNLKT 250 260 270 280 290 300 GQLLKKMHID DSYQASVCHG AYSEKGLLFV VVSQPCAKES QALGSPVFQL LVINPKTAQS 310 320 330 340 350 360 VGVLLCSLPQ GQAGRFLEGD VKDHVAAAVL TSGTIAIWDL LLGHCTALLP PVSDQSWSLV 370 380 KWSGTDSHLL AGQKDGNIFI YRYF
	Isoform 4 [UniParc]. Checksum: 7B49F932BFEDA83A	FASTA	544	58,971
	10 20 30 40 50 60 MEELSGKPLS YAEKEKLKEK LAFLKKEYSR TLARLQRAKR AEKAKNSKKA IEDGVPQPEA 70 80 90 100 110 120 SSQLSHSESI NKGFPCDTLQ SNHLDEETGE NISQILDVEP QSFNCKQGKE VLHTPRAGDI 130 140 150 160 170 180 QGQLLHSTSS PDGKKEQNTL PGTTKTPWEK SSVSQEKEDY FDTNSLALLG KHRKGQESIS 190 200 210 220 230 240 RKNSRTPVSE KTHLLSLRSQ IPDPPALVTG IGEGILIPPS GKSERGIDTL VRGNTVSAEA 250 260 270 280 290 300 AVPSCTASNS NHSQHLEHTP PKSGCKITTQ GPASSTNLVA QDQKMTIFTV NSVVYKAVRA 310 320 330 340 350 360 HGQLPGSPNS CSVNDLTHSN LPANSTPNSK SLKSPSNTVD ERNEPLQEDE ILGPSKNFNL 370 380 390 400 410 420 AAVSPPSTES QIHSCTMLEG LLFPAEYYVR TTRRMSDCQR KIALEAVIQS HLGVKKKELK 430 440 450 460 470 480 KKTKATKAVV LSSEDTDQSE SGMLDTSTGQ SSSGSLSQKL LSPAEVSSPP GPAGKATTPP 490 500 510 520 530 540 PGRGHRGKRK SARTSTLGHC QLLFPPCAAL AVNRSKGKFT KHKCQNRGVV IHGKSRRRVR LRLM

References

[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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK028653 mRNA. Translation: BAC26048.1. AK156701 mRNA. Translation: BAE33811.1. BC055302 mRNA. Translation: AAH55302.1. BC066140 mRNA. Translation: AAH66140.1.
IPI	IPI00454134. IPI00761504. IPI00798587. IPI00928454.
RefSeq	NP_001074707.1. NM_001081238.1.
UniGene	Mm.38348.
3D structure databases
ProteinModelPortal	Q3U0P1.
SMR	Q3U0P1. Positions 772-1103.
ModBase	Search...
PTM databases
PhosphoSite	Q3U0P1.
Proteomic databases
PRIDE	Q3U0P1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000063587; ENSMUSP00000063514; ENSMUSG00000044702. ENSMUST00000098068; ENSMUSP00000095675; ENSMUSG00000044702. ENSMUST00000106469; ENSMUSP00000102077; ENSMUSG00000044702. ENSMUST00000130149; ENSMUSP00000121994; ENSMUSG00000044702.
GeneID	233826.
KEGG	mmu:233826.
UCSC	uc009joj.1. mouse. uc009jom.1. mouse. uc012ftg.1. mouse. uc012fth.1. mouse.
Organism-specific databases
CTD	79728.
MGI	MGI:3040695. Palb2.
Phylogenomic databases
eggNOG	NOG73403.
GeneTree	ENSGT00390000014423.
HOGENOM	HOG000115428.
HOVERGEN	HBG082102.
InParanoid	Q3U0P1.
KO	K10897.
OMA	VCHKAYS.
OrthoDB	EOG41NTK6.
Gene expression databases
ArrayExpress	Q3U0P1.
Bgee	Q3U0P1.
CleanEx	MM_PALB2.
Genevestigator	Q3U0P1.
GermOnline	ENSMUSG00000044702. Mus musculus.
Family and domain databases
Gene3D	2.130.10.10. 3 hits.
InterPro	IPR015943. WD40/YVTN_repeat-like_dom. IPR017986. WD40_repeat_dom. [Graphical view]
SUPFAM	SSF50978. WD40_like. 1 hit.
PROSITE	PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. False negative. PS50294. WD_REPEATS_REGION. False negative. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	PALB2. mouse.
NextBio	381867.
SOURCE	Search...

Entry information

Entry name

PALB2_MOUSE

Accession

Primary (citable) accession number: Q3U0P1
Secondary accession number(s): Q6NZG9, Q7TMQ4, Q8CEA9

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 17, 2006
Last sequence update:	October 17, 2006
Last modified:	April 3, 2013
This is version 65 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program