Homo sapiens L. (human) [HSA]

FULL NAME: Partner and localizer of BRCA2


DESCRIPTION:
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.

STRUCTURE SIMILARITY:
Contains 7 WD repeats.


POST-TRANSLATIONAL MODIFICATION:
Phosphorylated upon DNA damage, probably by ATM or ATR.


RELATED PATHWAY(S):
Fanconi anemia (FA) pathway


RELATED DISEASE(S):
Fanconi anemia, complementation group N (FANCN)
pancreatic cancer, susceptibility to, 3
breast cancer (BC)


Amino acids sequence

        10         20         30         40         50         60
MDEPPGKPLS CEEKEKLKEK LAFLKREYSK TLARLQRAQR AEKIKHSIKK TVEEQDCLSQ
        70         80         90        100        110        120
QDLSPQLKHS EPKNKICVYD KLHIKTHLDE ETGEKTSITL DVGPESFNPG DGPGGLPIQR
       130        140        150        160        170        180
TDDTQEHFPH RVSDPSGEQK QKLPSRRKKQ QKRTFISQER DCVFGTDSLR LSGKRLKEQE
       190        200        210        220        230        240
EISSKNPARS PVTEIRTHLL SLKSELPDSP EPVTEINEDS VLIPPTAQPE KGVDTFLRRP
       250        260        270        280        290        300
NFTRATTVPL QTLSDSGSSQ HLEHIPPKGS SELTTHDLKN IRFTSPVSLE AQGKKMTVST
       310        320        330        340        350        360
DNLLVNKAIS KSGQLPTSSN LEANISCSLN ELTYNNLPAN ENQNLKEQNQ TEKSLKSPSD
       370        380        390        400        410        420
TLDGRNENLQ ESEILSQPKS LSLEATSPLS AEKHSCTVPE GLLFPAEYYV RTTRSMSNCQ
       430        440        450        460        470        480
RKVAVEAVIQ SHLDVKKKGF KNKNKDASKN LNLSNEETDQ SEIRMSGTCT GQPSSRTSQK
       490        500        510        520        530        540
LLSLTKVSSP AGPTEDNDLS RKAVAQAPGR RYTGKRKSAC TPASDHCEPL LPTSSLSIVN
       550        560        570        580        590        600
RSKEEVTSHK YQHEKLFIQV KGKKSRHQKE DSLSWSNSAY LSLDDDAFTA PFHRDGMLSL
       610        620        630        640        650        660
KQLLSFLSIT DFQLPDEDFG PLKLEKVKSC SEKPVEPFES KMFGERHLKE GSCIFPEELS
       670        680        690        700        710        720
PKRMDTEMED LEEDLIVLPG KSHPKRPNSQ SQHTKTGLSS SILLYTPLNT VAPDDNDRPT
       730        740        750        760        770        780
TDMCSPAFPI LGTTPAFGPQ GSYEKASTEV AGRTCCTPQL AHLKDSVCLA SDTKQFDSSG
       790        800        810        820        830        840
SPAKPHTTLQ VSGRQGQPTC DCDSVPPGTP PPIESFTFKE NQLCRNTCQE LHKHSVEQTE
       850        860        870        880        890        900
TAELPASDSI NPGNLQLVSE LKNPSGSCSV DVSAMFWERA GCKEPCIITA CEDVVSLWKA
       910        920        930        940        950        960
LDAWQWEKLY TWHFAEVPVL QIVPVPDVYN LVCVALGNLE IREIRALFCS SDDESEKQVL
       970        980        990       1000       1010       1020
LKSGNIKAVL GLTKRRLVSS SGTLSDQQVE VMTFAEDGGG KENQFLMPPE ETILTFAEVQ
      1030       1040       1050       1060       1070       1080
GMQEALLGTT IMNNIVIWNL KTGQLLKKMH IDDSYQASVC HKAYSEMGLL FIVLSHPCAK
      1090       1100       1110       1120       1130       1140
ESESLRSPVF QLIVINPKTT LSVGVMLYCL PPGQAGRFLE GDVKDHCAAA ILTSGTIAIW
      1150       1160       1170       1180
DLLLGQCTAL LPPVSDQHWS FVKWSGTDSH LLAGQKDGNI FVYHYS 

Encoded by PALB2 gene

FULL NAME: partner and localizer of BRCA2


OTHER NAME(S):
DKFZp667I166
DKFZp686E1054
FANCN
FLJ21816
PNCA3


DESCRIPTION:
This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atggacgagc ctcccgggaa gcccctcagc tgtgaggaga aggaaaagtt aaaggagaaa
        70         80         90        100        110        120
ttagcattct tgaaaaggga atacagcaag acactagccc gccttcagcg tgcccaaaga
       130        140        150        160        170        180
gctgaaaaga ttaagcattc tattaagaaa acagtagaag aacaagattg tttgtctcag
       190        200        210        220        230        240
caggatctct caccgcagct aaaacactca gaacctaaaa ataaaatatg tgtttatgac
       250        260        270        280        290        300
aagttacaca tcaaaaccca tcttgatgaa gaaactggag aaaagacatc tatcacactt
       310        320        330        340        350        360
gatgttgggc ctgagtcctt taaccctgga gatggcccag gaggattacc tatacaaaga
       370        380        390        400        410        420
acagatgaca cccaagaaca ttttccccac agggtcagtg accctagtgg tgagcaaaag
       430        440        450        460        470        480
cagaagctgc caagcagaag aaagaagcag cagaagagga catttatttc acaggagaga
       490        500        510        520        530        540
gactgtgtct ttggcactga ttcactcaga ttgtctggga aaagactaaa ggaacaggaa
       550        560        570        580        590        600
gaaatcagta gcaaaaatcc tgctagatca ccagtaactg aaataagaac tcacctttta
       610        620        630        640        650        660
agtcttaaat ctgaacttcc agattctcca gaaccagtta cagaaattaa tgaagacagt
       670        680        690        700        710        720
gtattaattc caccaactgc ccaaccagaa aaaggtgttg atacattcct aagaagacct
       730        740        750        760        770        780
aatttcacca gggcgactac agttccttta cagactctat cagatagcgg tagtagtcag
       790        800        810        820        830        840
caccttgaac acattcctcc taaaggtagc agtgaactta ctactcacga cctaaaaaac
       850        860        870        880        890        900
attagattta cttcacctgt aagtttggag gcacaaggca aaaaaatgac tgtctctaca
       910        920        930        940        950        960
gataacctcc ttgtaaataa agctataagt aaaagtggcc aactgcccac aagttctaat
       970        980        990       1000       1010       1020
ttagaggcaa atatttcatg ttctctaaat gaactcacct acaataactt accagcaaat
      1030       1040       1050       1060       1070       1080
gaaaaccaaa acttaaaaga acaaaatcaa acagagaaat ctttaaaatc tcccagtgac
      1090       1100       1110       1120       1130       1140
actcttgatg gcaggaatga aaatcttcag gaaagtgaga ttctaagtca acctaagagt
      1150       1160       1170       1180       1190       1200
cttagcctgg aagcaacctc tcctctttct gcagaaaaac attcttgcac agtgcctgaa
      1210       1220       1230       1240       1250       1260
ggccttctgt ttcctgcaga atattatgtt agaacaacac gaagcatgtc caattgccag
      1270       1280       1290       1300       1310       1320
aggaaagtag ccgtggaggc tgtcattcag agtcatttgg atgtcaagaa aaaagggttt
      1330       1340       1350       1360       1370       1380
aaaaataaaa ataaggatgc aagtaaaaat ttaaaccttt ccaatgagga aactgaccaa
      1390       1400       1410       1420       1430       1440
agtgaaatta ggatgtctgg cacatgcaca ggacaaccaa gttcaagaac ctctcagaaa
      1450       1460       1470       1480       1490       1500
cttctctcat taactaaagt cagctctccc gctgggccca ctgaagataa tgacttgtct
      1510       1520       1530       1540       1550       1560
aggaaggcag ttgcccaagc acctggtaga agatacacag gaaaaagaaa atcagcctgc
      1570       1580       1590       1600       1610       1620
accccagcat cagatcattg tgaaccactt ttgccaactt ctagcctgtc gattgttaac
      1630       1640       1650       1660       1670       1680
aggtccaagg aagaagtcac ctcacacaaa tatcagcacg aaaaattatt tattcaagtg
      1690       1700       1710       1720       1730       1740
aaagggaaga aaagtcgtca tcaaaaagag gattcccttt cttggagtaa tagtgcttat
      1750       1760       1770       1780       1790       1800
ttatccttgg atgatgatgc tttcacggct ccatttcata gggatggaat gctgagttta
      1810       1820       1830       1840       1850       1860
aagcaactac tgtcttttct cagtatcaca gactttcagt tacctgatga agactttgga
      1870       1880       1890       1900       1910       1920
cctcttaagc ttgaaaaagt gaagtcctgc tcagaaaaac cagtggagcc ctttgagtca
      1930       1940       1950       1960       1970       1980
aaaatgtttg gagagagaca tcttaaagag ggaagctgta tttttccaga ggaactgagt
      1990       2000       2010       2020       2030       2040
cctaaacgca tggatacaga aatggaggac ttagaagagg accttattgt tctaccagga
      2050       2060       2070       2080       2090       2100
aaatcacatc ccaaaaggcc aaactcgcaa agccagcata caaagacggg cctttcttca
      2110       2120       2130       2140       2150       2160
tccatattac tttatactcc tttaaatacg gttgcgcctg atgataatga caggcctacc
      2170       2180       2190       2200       2210       2220
acagacatgt gttcacctgc tttccccatc ttaggtacta ctccagcctt tggccctcaa
      2230       2240       2250       2260       2270       2280
ggctcctatg aaaaagcatc tacagaagtt gctggacgaa cttgctgcac accccaactt
      2290       2300       2310       2320       2330       2340
gctcatttga aagactcagt ctgtcttgcc agtgatacta aacaattcga cagttcaggc
      2350       2360       2370       2380       2390       2400
agcccagcaa aaccacatac caccctgcaa gtgtcaggca ggcaaggaca acctacctgt
      2410       2420       2430       2440       2450       2460
gactgtgact ctgtcccgcc aggaacacct ccacccattg agtcattcac ttttaaagaa
      2470       2480       2490       2500       2510       2520
aatcagctct gtagaaacac atgccaggag ctgcataaac attccgtcga acagactgaa
      2530       2540       2550       2560       2570       2580
acagcagagc ttcctgcttc tgatagcata aacccaggca acctacaatt ggtttcagag
      2590       2600       2610       2620       2630       2640
ttaaagaatc cttcaggttc ctgttccgta gatgtgagtg ccatgttttg ggaaagagcc
      2650       2660       2670       2680       2690       2700
ggttgtaaag agccatgtat cataactgct tgcgaagatg tagtttctct ttggaaagct
      2710       2720       2730       2740       2750       2760
ctggatgctt ggcagtggga aaaactttat acctggcact tcgcagaggt tccagtatta
      2770       2780       2790       2800       2810       2820
cagatagttc cagtgcctga tgtgtataat ctcgtgtgtg tagctttggg aaatttggaa
      2830       2840       2850       2860       2870       2880
atcagagaga tcagggcatt gttttgttcc tctgatgatg aaagtgaaaa gcaagtacta
      2890       2900       2910       2920       2930       2940
ctgaagtctg gaaatataaa agctgtgctt ggcctgacaa agaggaggct agttagtagc
      2950       2960       2970       2980       2990       3000
agtgggaccc tttctgatca acaagtagaa gtcatgacgt ttgcagaaga tggaggaggc
      3010       3020       3030       3040       3050       3060
aaagaaaacc aatttttgat gccccctgag gagactatac taacttttgc tgaggtccaa
      3070       3080       3090       3100       3110       3120
gggatgcaag aagctctgct tggtactact attatgaaca acattgttat ttggaattta
      3130       3140       3150       3160       3170       3180
aaaactggtc aactcctgaa aaagatgcac attgatgatt cttaccaagc ttcagtctgt
      3190       3200       3210       3220       3230       3240
cacaaagcct attctgaaat ggggcttctc tttattgtcc tgagtcatcc ctgtgccaaa
      3250       3260       3270       3280       3290       3300
gagagtgagt cgttgcgaag ccctgtgttt cagctcattg tgattaaccc taagacgact
      3310       3320       3330       3340       3350       3360
ctcagcgtgg gtgtgatgct gtactgtctt cctccagggc aggctggcag gttcctggaa
      3370       3380       3390       3400       3410       3420
ggtgacgtga aagatcactg tgcagcagca atcttgactt ctggaacaat tgccatttgg
      3430       3440       3450       3460       3470       3480
gacttacttc tcggtcagtg tactgccctc ctcccacctg tctctgacca acattggtct
      3490       3500       3510       3520       3530       3540
tttgtgaaat ggtcgggtac agactctcat ttgctggctg gacaaaaaga tggaaatata
      3550       3560
tttgtatacc actattcata a   

Last modification date: Oct. 2, 2011