Homo sapiens L. (human) [HSA]

FULL NAME: Methyl-CpG-binding protein 2


DESCRIPTION:
Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A.

STRUCTURE SIMILARITY:
Contains 1 MBD (methyl-CpG-binding) domain.
Contains 2 A.T hook DNA-binding domains.


POST-TRANSLATIONAL MODIFICATION:
Phosphorylated on Ser-423 in brain upon synaptic activity, which attenuates its repressor activity and seems to regulate dendritic growth and spine maturation (By similarity).


PROTEIN TYPE(S):
methyl-CpG binding


RELATED PATHWAY(S):
heterochromatin formation


RELATED DISEASE(S):
Rett syndrome (RTT)
mental retardation syndromic X-linked type 13 (MRXS13)
Angelman syndrome (AS)


Amino acids sequence

        10         20         30         40         50         60
MVAGMLGLRE EKSEDQDLQG LKDKPLKFKK VKKDKKEEKE GKHEPVQPSA HHSAEPAEAG
        70         80         90        100        110        120
KAETSEGSGS APAVPEASAS PKQRRSIIRD RGPMYDDPTL PEGWTRKLKQ RKSGRSAGKY
       130        140        150        160        170        180
DVYLINPQGK AFRSKVELIA YFEKVGDTSL DPNDFDFTVT GRGSPSRREQ KPPKKPKSPK
       190        200        210        220        230        240
APGTGRGRGR PKGSGTTRPK AATSEGVQVK RVLEKSPGKL LVKMPFQTSP GGKAEGGGAT
       250        260        270        280        290        300
TSTQVMVIKR PGRKRKAEAD PQAIPKKRGR KPGSVVAAAA AEAKKKAVKE SSIRSVQETV
       310        320        330        340        350        360
LPIKKRKTRE TVSIEVKEVV KPLLVSTLGE KSGKGLKTCK SPGRKSKESS PKGRSSSASS
       370        380        390        400        410        420
PPKKEHHHHH HHSESPKAPV PLLPPLPPPP PEPESSEDPT SPPEPQDLSS SVCKEEKMPR
       430        440        450        460        470        480
GGSLESDGCP KEPAKTQPAV ATAATAAEKY KHRGEGERKD IVSSSMPRPN REEPVDSRTP

VTERVS     

Encoded by MECP2 gene

FULL NAME: methyl CpG binding protein 2 (Rett syndrome)


OTHER NAME(S):
AUTSX3
DKFZp686A24160
MRX16
MRX79
MRXS13
MRXSL
PPMX
RS
RTS
RTT


DESCRIPTION:
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. [provided by RefSeq, Jul 2009]


Nucleic acid sequence

        10         20         30         40         50         60
atggccgccg ccgccgccgc cgcgccgagc ggaggaggag gaggaggcga ggaggagaga
        70         80         90        100        110        120
ctggaagaaa agtcagaaga ccaggacctc cagggcctca aggacaaacc cctcaagttt
       130        140        150        160        170        180
aaaaaggtga agaaagataa gaaagaagag aaagagggca agcatgagcc cgtgcagcca
       190        200        210        220        230        240
tcagcccacc actctgctga gcccgcagag gcaggcaaag cagagacatc agaagggtca
       250        260        270        280        290        300
ggctccgccc cggctgtgcc ggaagcttct gcctccccca aacagcggcg ctccatcatc
       310        320        330        340        350        360
cgtgaccggg gacccatgta tgatgacccc accctgcctg aaggctggac acggaagctt
       370        380        390        400        410        420
aagcaaagga aatctggccg ctctgctggg aagtatgatg tgtatttgat caatccccag
       430        440        450        460        470        480
ggaaaagcct ttcgctctaa agtggagttg attgcgtact tcgaaaaggt aggcgacaca
       490        500        510        520        530        540
tccctggacc ctaatgattt tgacttcacg gtaactggga gagggagccc ctcccggcga
       550        560        570        580        590        600
gagcagaaac cacctaagaa gcccaaatct cccaaagctc caggaactgg cagaggccgg
       610        620        630        640        650        660
ggacgcccca aagggagcgg caccacgaga cccaaggcgg ccacgtcaga gggtgtgcag
       670        680        690        700        710        720
gtgaaaaggg tcctggagaa aagtcctggg aagctccttg tcaagatgcc ttttcaaact
       730        740        750        760        770        780
tcgccagggg gcaaggctga ggggggtggg gccaccacat ccacccaggt catggtgatc
       790        800        810        820        830        840
aaacgccccg gcaggaagcg aaaagctgag gccgaccctc aggccattcc caagaaacgg
       850        860        870        880        890        900
ggccgaaagc cggggagtgt ggtggcagcc gctgccgccg aggccaaaaa gaaagccgtg
       910        920        930        940        950        960
aaggagtctt ctatccgatc tgtgcaggag accgtactcc ccatcaagaa gcgcaagacc
       970        980        990       1000       1010       1020
cgggagacgg tcagcatcga ggtcaaggaa gtggtgaagc ccctgctggt gtccaccctc
      1030       1040       1050       1060       1070       1080
ggtgagaaga gcgggaaagg actgaagacc tgtaagagcc ctgggcggaa aagcaaggag
      1090       1100       1110       1120       1130       1140
agcagcccca aggggcgcag cagcagcgcc tcctcacccc ccaagaagga gcaccaccac
      1150       1160       1170       1180       1190       1200
catcaccacc actcagagtc cccaaaggcc cccgtgccac tgctcccacc cctgccccca
      1210       1220       1230       1240       1250       1260
cctccacctg agcccgagag ctccgaggac cccaccagcc cccctgagcc ccaggacttg
      1270       1280       1290       1300       1310       1320
agcagcagcg tctgcaaaga ggagaagatg cccagaggag gctcactgga gagcgacggc
      1330       1340       1350       1360       1370       1380
tgccccaagg agccagctaa gactcagccc gcggttgcca ccgccgccac ggccgcagaa
      1390       1400       1410       1420       1430       1440
aagtacaaac accgagggga gggagagcgc aaagacattg tttcatcctc catgccaagg
      1450       1460       1470       1480       1490
ccaaacagag aggagcctgt ggacagccgg acgcccgtga ccgagagagt tagctga

Last modification date: Oct. 2, 2011