Homo sapiens L. (human) [HSA]

FULL NAME: DNA (cytosine-5)-methyltransferase 3B


DESCRIPTION:
Required for genome wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs.

STRUCTURE SIMILARITY:
Contains 1 GATA-type zinc finger.
Belongs to the C5-methyltransferase family.
Contains 1 PWWP domain.
Contains 1 PHD-type zinc finger.
Contains 1 ADD domain.


CATALYTIC ACTIVITY:
S-adenosyl-L-methionine + DNA = S-adenosyl-L-homocysteine + DNA containing 5-methylcytosine.


ENZYME REGULATION:
Activated by binding to the regulatory factor DNMT3L (By similarity).


POST-TRANSLATIONAL MODIFICATION:
Sumoylated.


PROTEIN TYPE(S):
DNA methyltransferase


RELATED PATHWAY(S):
DNA replication
heterochromatin formation


RELATED DISEASE(S):
immunodeficiency-centromeric instability-facial anomalies syndrome (ICF)


Amino acids sequence

        10         20         30         40         50         60
MKGDTRHLNG EEDAGGREDS ILVNGACSDQ SSDSPPILEA IRTPEIRGRR SSSRLSKREV
        70         80         90        100        110        120
SSLLSYTQDL TGDGDGEDGD GSDTPVMPKL FRETRTRSES PAVRTRNNNS VSSRERHRPS
       130        140        150        160        170        180
PRSTRGRQGR NHVDESPVEF PATRSLRRRA TASAGTPWPS PPSSYLTIDL TDDTEDTHGT
       190        200        210        220        230        240
PQSSSTPYAR LAQDSQQGGM ESPQVEADSG DGDSSEYQDG KEFGIGDLVW GKIKGFSWWP
       250        260        270        280        290        300
AMVVSWKATS KRQAMSGMRW VQWFGDGKFS EVSADKLVAL GLFSQHFNLA TFNKLVSYRK
       310        320        330        340        350        360
AMYHALEKAR VRAGKTFPSS PGDSLEDQLK PMLEWAHGGF KPTGIEGLKP NNTQPVVNKS
       370        380        390        400        410        420
KVRRAGSRKL ESRKYENKTR RRTADDSATS DYCPAPKRLK TNCYNNGKDR GDEDQSREQM
       430        440        450        460        470        480
ASDVANNKSS LEDGCLSCGR KNPVSFHPLF EGGLCQTCRD RFLELFYMYD DDGYQSYCTV
       490        500        510        520        530        540
CCEGRELLLC SNTSCCRCFC VECLEVLVGT GTAAEAKLQE PWSCYMCLPQ RCHGVLRRRK
       550        560        570        580        590        600
DWNVRLQAFF TSDTGLEYEA PKLYPAIPAA RRRPIRVLSL FDGIATGYLV LKELGIKVGK
       610        620        630        640        650        660
YVASEVCEES IAVGTVKHEG NIKYVNDVRN ITKKNIEEWG PFDLVIGGSP CNDLSNVNPA
       670        680        690        700        710        720
RKGLYEGTGR LFFEFYHLLN YSRPKEGDDR PFFWMFENVV AMKVGDKRDI SRFLECNPVM
       730        740        750        760        770        780
IDAIKVSAAH RARYFWGNLP GMNRPVIASK NDKLELQDCL EYNRIAKLKK VQTITTKSNS
       790        800        810        820        830        840
IKQGKNQLFP VVMNGKEDVL WCTELERIFG FPVHYTDVSN MGRGARQKLL GRSWSVPVIR
       850
HLFAPLKDYF ACE    

Encoded by DNMT3B gene

FULL NAME: DNA (cytosine-5-)-methyltransferase 3 beta


OTHER NAME(S):
ICF
M.HsaIIIB
ICF1


DESCRIPTION:
CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]


Nucleic acid sequence

        10         20         30         40         50         60
atgaagggag acaccaggca tctcaatgga gaggaggacg ccggcgggag ggaagactcg
        70         80         90        100        110        120
atcctcgtca acggggcctg cagcgaccag tcctccgact cgcccccaat cctggaggct
       130        140        150        160        170        180
atccgcaccc cggagatcag aggccgaaga tcaagctcgc gactctccaa gagggaggtg
       190        200        210        220        230        240
tccagtctgc taagctacac acaggacttg acaggcgatg gcgacgggga agatggggat
       250        260        270        280        290        300
ggctctgaca ccccagtcat gccaaagctc ttccgggaaa ccaggactcg ttcagaaagc
       310        320        330        340        350        360
ccagcttccc tgagacggcg ggcaacagca tcggcaggaa cgccatggcc gtcccctccc
       370        380        390        400        410        420
agctcttacc ttaccatcga cctcacagac gacacagagg acacacatgg gacgccccag
       430        440        450        460        470        480
agcagcagta ccccctacgc ccgcctagcc caggacagcc agcagggggg catggagtcc
       490        500        510        520        530        540
ccgcaggtgg aggcagacag tggagatgga gacagttcag agtatcagga tgggaaggag
       550        560        570        580        590        600
tttggaatag gggacctcgt gtggggaaag atcaagggct tctcctggtg gcccgccatg
       610        620        630        640        650        660
gtggtgtctt ggaaggccac ctccaagcga caggctatgt ctggcatgcg gtgggtccag
       670        680        690        700        710        720
tggtttggcg atggcaagtt ctccgaggtc tctgcagaca aactggtggc actggggctg
       730        740        750        760        770        780
ttcagccagc actttaattt ggccaccttc aataagctcg tctcctatcg aaaagccatg
       790        800        810        820        830        840
taccatgctc tggagaaagc tagggtgcga gctggcaaga ccttccccag cagccctgga
       850        860        870        880        890        900
gactcattgg aggaccagct gaagcccatg ttggagtggg cccacggggg cttcaagccc
       910        920        930        940        950        960
actgggatcg agggcctcaa acccaacaac acgcaaccag agaacaagac tcgaagacgc
       970        980        990       1000       1010       1020
acagctgacg actcagccac ctctgactac tgccccgcac ccaagcgcct caagacaaat
      1030       1040       1050       1060       1070       1080
tgctataaca acggcaaaga ccgaggggat gaagatcaga gccgagaaca aatggcttca
      1090       1100       1110       1120       1130       1140
gatgttgcca acaacaagag cagcctggaa gatggctgtt tgtcttgtgg caggaaaaac
      1150       1160       1170       1180       1190       1200
cccgtgtcct tccaccctct ctttgagggg gggctctgtc agacatgccg ggatcgcttc
      1210       1220       1230       1240       1250       1260
cttgagctgt tttacatgta tgatgacgat ggctatcagt cttactgcac tgtgtgctgc
      1270       1280       1290       1300       1310       1320
gagggccgag agctgctgct ttgcagcaac acgagctgct gccggtgttt ctgtgtggag
      1330       1340       1350       1360       1370       1380
tgcctggagg tgctggtggg cacaggcaca gcggccgagg ccaagcttca ggagccctgg
      1390       1400       1410       1420       1430       1440
agctgttaca tgtgtctccc gcagcgctgt catggcgtcc tgcggcgccg gaaggactgg
      1450       1460       1470       1480       1490       1500
aacgtgcgcc tgcaggcctt cttcaccagt gacacggggc ttgaatatga agcccccaag
      1510       1520       1530       1540       1550       1560
ctgtaccctg ccattcccgc agcccgaagg cggcccattc gagtcctgtc attgtttgat
      1570       1580       1590       1600       1610       1620
ggcatcgcga caggctacct agtcctcaaa gagttgggca taaaggtagg aaagtacgtc
      1630       1640       1650       1660       1670       1680
gcttctgaag tgtgtgagga gtccattgct gttggaaccg tgaagcacga ggggaatatc
      1690       1700       1710       1720       1730       1740
aaatacgtga acgacgtgag gaacatcaca aagaaaaata ttgaagaatg gggcccattt
      1750       1760       1770       1780       1790       1800
gacttggtga ttggcggaag cccatgcaac gatctctcaa atgtgaatcc agccaggaaa
      1810       1820       1830       1840       1850       1860
ggcctgtatg agggtacagg ccggctcttc ttcgaatttt accacctgct gaattactca
      1870       1880       1890       1900       1910       1920
cgccccaagg agggtgatga ccggccgttc ttctggatgt ttgagaatgt tgtagccatg
      1930       1940       1950       1960       1970       1980
aaggttggcg acaagaggga catctcacgg ttcctggagt gtaatccagt gatgattgat
      1990       2000       2010       2020       2030       2040
gccatcaaag tttctgctgc tcacagggcc cgatacttct ggggcaacct acccgggatg
      2050       2060       2070       2080       2090       2100
aacaggatct ttggctttcc tgtgcactac acagacgtgt ccaacatggg ccgtggtgcc
      2110       2120       2130       2140       2150       2160
cgccagaagc tgctgggaag gtcctggagc gtgcctgtca tccgacacct cttcgcccct
      2170       2180
ctgaaggact actttgcatg tgaatag   

Last modification date: Oct. 2, 2011