Homo sapiens L. (human) [HSA]

FULL NAME: BRCA1-associated RING domain protein 1


DESCRIPTION:
Probable E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II stability by inhibiting pre-mRNA 3' cleavage.

STRUCTURE SIMILARITY:
Contains 4 ANK repeats.
Contains 2 BRCT domains.
Contains 1 RING-type zinc finger.


POST-TRANSLATIONAL MODIFICATION:
Processed during apoptosis. The homodimer is more susceptible to proteolytic cleavage than the BARD1/BRCA1 heterodimer.


RELATED DISEASE(S):
breast cancer (BC)


Amino acids sequence

        10         20         30         40         50         60
MPDNRQPRNR QPRIRSGNEP RSAPAMEPDG RGAWAHSRAA LDRLEKLLRC SRCTNILREP
        70         80         90        100        110        120
VCLGGCEHIF CSNCVSDCIG TGCPVCYTPA WIQDLKINRQ LDSMIQLCSK LRNLLHDNEL
       130        140        150        160        170        180
SDLKEDKPRK SLFNDAGNKK NSIKMWFSPR SKKVRYVVSK ASVQTQPAIK KDASAQQDSY
       190        200        210        220        230        240
EFVSPSPPAD VSERAKKASA RSGKKQKKKT LAEINQKWNL EAEKEDGEFD SKEESKQKLV
       250        260        270        280        290        300
SFCSQPSVIS SPQINGEIDL LASGSLTESE CFGSLTEVSL PLAEQIESPD TKSRNEVVTP
       310        320        330        340        350        360
EKVCKNYLTS KKSLPLENNG KRGHHNRLSS PISKRCRTSI LSTSGDFVKQ TVPSENIPLP
       370        380        390        400        410        420
ECSSPPSCKR KVGGTSGRKN SNMSDEFISL SPGTPPSTLS SSSYRRVMSS PSAMKLLPNM
       430        440        450        460        470        480
AVKRNHRGET LLHIASIKGD IPSVEYLLQN GSDPNVKDHA GWTPLHEACN HGHLKVVELL
       490        500        510        520        530        540
LQHKALVNTT GYQNDSPLHD AAKNGHVDIV KLLLSYGASR NAVNIFGLRP VDYTDDESMK
       550        560        570        580        590        600
SLLLLPEKNE SSSASHCSVM NTGQRRDGPL VLIGSGLSSE QQKMLSELAV ILKAKKYTEF
       610        620        630        640        650        660
DSTVTHVVVP GDAVQSTLKC MLGILNGCWI LKFEWVKACL RRKVCEQEEK YEIPEGPRRS
       670        680        690        700        710        720
RLNREQLLPK LFDGCYFYLW GTFKHHPKDN LIKLVTAGGG QILSRKPKPD SDVTQTINTV
       730        740        750        760        770
AYHARPDSDQ RFCTQYIIYE DLCNYHPERV RQGKVWKAPS SWFIDCVMSF ELLPLDS

Encoded by BARD1 gene

FULL NAME: BRCA1 associated RING domain 1


DESCRIPTION:
This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atgccggata atcggcagcc gaggaaccgg cagccgagga tccgctccgg gaacgagcct
        70         80         90        100        110        120
cgttccgcgc ccgccatgga accggatggt cgcggtgcct gggcccacag tcgcgccgcg
       130        140        150        160        170        180
ctcgaccgcc tggagaagct gctgcgctgc tcgcgttgta ctaacattct gagagagcct
       190        200        210        220        230        240
gtgtgtttag gaggatgtga gcacatcttc tgtagtaatt gtgtaagtga ctgcattgga
       250        260        270        280        290        300
actggatgtc cagtgtgtta caccccggcc tggatacaag acttgaagat aaatagacaa
       310        320        330        340        350        360
ctggacagca tgattcaact ttgtagtaag cttcgaaatt tgctacatga caatgagctg
       370        380        390        400        410        420
tcagatttga aagaagataa acctaggaaa agtttgttta atgatgcagg aaacaagaag
       430        440        450        460        470        480
aattcaatta aaatgtggtt tagccctcga agtaagaaag tcagatatgt tgtgagtaaa
       490        500        510        520        530        540
gcttcagtgc aaacccagcc tgcaataaaa aaagatgcaa gtgctcagca agactcatat
       550        560        570        580        590        600
gaatttgttt ccccaagtcc tcctgcagat gtttctgaga gggctaaaaa ggcttctgca
       610        620        630        640        650        660
agatctggaa aaaagcaaaa aaagaaaact ttagctgaaa tcaaccaaaa atggaattta
       670        680        690        700        710        720
gaggcagaaa aagaagatgg tgaatttgac tccaaagagg aatctaagca aaagctggta
       730        740        750        760        770        780
tccttctgta gccaaccatc tgttatctcc agtcctcaga taaatggtga aatagactta
       790        800        810        820        830        840
ctagcaagtg gctccttgac agaatctgaa tgttttggaa gtttaactga agtctcttta
       850        860        870        880        890        900
ccattggctg agcaaataga gtctccagac actaagagca ggaatgaagt agtgactcct
       910        920        930        940        950        960
gagaaggtct gcaaaaatta tcttacatct aagaaatctt tgccattaga aaataatgga
       970        980        990       1000       1010       1020
aaacgtggcc atcacaatag actttccagt cccatttcta agagatgtag aaccagcatt
      1030       1040       1050       1060       1070       1080
ctgagcacca gtggagattt tgttaagcaa acggtgccct cagaaaatat accattgcct
      1090       1100       1110       1120       1130       1140
gaatgttctt caccaccttc atgcaaacgt aaagttggtg gtacatcagg gaggaaaaac
      1150       1160       1170       1180       1190       1200
agtaacatgt ccgatgaatt cattagtctt tcaccaggta caccaccttc tacattaagt
      1210       1220       1230       1240       1250       1260
agttcaagtt acaggcgagt gatgtctagt ccctcagcaa tgaagctgtt gcccaatatg
      1270       1280       1290       1300       1310       1320
gctgtgaaaa gaaatcatag aggagagact ttgctccata ttgcttctat taagggcgac
      1330       1340       1350       1360       1370       1380
ataccttctg ttgaatacct tttacaaaat ggaagtgatc caaatgttaa agaccatgct
      1390       1400       1410       1420       1430       1440
ggatggacac cattgcatga agcttgcaat catgggcacc tgaaggtagt ggaattattg
      1450       1460       1470       1480       1490       1500
ctccagcata aggcattggt gaacaccacc gggtatcaaa atgactcacc acttcacgat
      1510       1520       1530       1540       1550       1560
gcagccaaga atgggcatgt ggatatagtc aagctgttac tttcctatgg agcctccaga
      1570       1580       1590       1600       1610       1620
aatgctgtta atatatttgg tctgcggcct gtcgattata cagatgatga aagtatgaaa
      1630       1640       1650       1660       1670       1680
tcgctattgc tgctaccaga gaagaatgaa tcatcctcag ctagccactg ctcagtaatg
      1690       1700       1710       1720       1730       1740
aacactgggc agcgtaggga tggacctctt gtacttatag gcagtgggct gtcttcagaa
      1750       1760       1770       1780       1790       1800
caacagaaaa tgctcagtga gcttgcagta attcttaagg ctaaaaaata tactgagttt
      1810       1820       1830       1840       1850       1860
gacagtacag taactcatgt tgttgttcct ggtgatgcag ttcaaagtac cttgaagtgt
      1870       1880       1890       1900       1910       1920
atgcttggga ttctcaatgg atgctggatt ctaaaatttg aatgggtaaa agcatgtcta
      1930       1940       1950       1960       1970       1980
cgaagaaaag tatgtgaaca ggaagaaaag tatgaaattc ctgaaggtcc acgcagaagc
      1990       2000       2010       2020       2030       2040
aggctcaaca gagaacagct gttgccaaag ctgtttgatg gatgctactt ctatttgtgg
      2050       2060       2070       2080       2090       2100
ggaaccttca aacaccatcc aaaggacaac cttattaagc tcgtcactgc aggtgggggc
      2110       2120       2130       2140       2150       2160
cagatcctca gtagaaagcc caagccagac agtgacgtga ctcagaccat caatacagtc
      2170       2180       2190       2200       2210       2220
gcataccatg cgagacccga ttctgatcag cgcttctgca cacagtatat catctatgaa
      2230       2240       2250       2260       2270       2280
gatttgtgta attatcaccc agagagggtt cggcagggca aagtctggaa ggctccttcg
      2290       2300       2310       2320       2330
agctggttta tagactgtgt gatgtccttt gagttgcttc ctcttgacag ctga

Last modification date: Oct. 2, 2011