Homo sapiens L. (human) [HSA]

FULL NAME: Methyl-CpG-binding domain protein 4


DESCRIPTION:
Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein.

STRUCTURE SIMILARITY:
Contains 1 MBD (methyl-CpG-binding) domain.


PROTEIN TYPE(S):
DNA N-glycosylase
endonuclease
methyl-CpG binding


RELATED PATHWAY(S):
base excision repair (BER)
heterochromatin formation


RELATED DAMAGE:
5-OH-meU in ssDNA
U or T from U/TpG:5meCpG
U or T from U/T:G
5-hydroxymethyl U (5-OH-me-U)
5-formyl dU (5-foU)
5-OH-meU from 5-OH-meU:G
5-formyl dU from 5-formylU:G
5-fluoroU from 5-fluoroU:G
5-fluoro-dU


Amino acids sequence

        10         20         30         40         50         60
MGTTGLESLS LGDRGAAPTV TSSERLVPDP PNDLRKEDVA MELERVGEDE EQMMIKRSSE
        70         80         90        100        110        120
CNPLLQEPIA SAQFGATAGT ECRKSVPCGW ERVVKQRLFG KTAGRFDVYF ISPQGLKFRS
       130        140        150        160        170        180
KSSLANYLHK NGETSLKPED FDFTVLSKRG IKSRYKDCSM AALTSHLQNQ SNNSNWNLRT
       190        200        210        220        230        240
RSKCKKDVFM PPSSSSELQE SRGLSNFTST HLLLKEDEGV DDVNFRKVRK PKGKVTILKG
       250        260        270        280        290        300
IPIKKTKKGC RKSCSGFVQS DSKRESVCNK ADAESEPVAQ KSQLDRTVCI SDAGACGETL
       310        320        330        340        350        360
SVTSEENSLV KKKERSLSSG SNFCSEQKTS GIINKFCSAK DSEHNEKYED TFLESEEIGT
       370        380        390        400        410        420
KVEVVERKEH LHTDILKRGS EMDNNCSPTR KDFTGEKIFQ EDTIPRTQIE RRKTSLYFSS
       430        440        450        460        470        480
KYNKEALSPP RRKAFKKWTP PRSPFNLVQE TLFHDPWKLL IATIFLNRTS GKMAIPVLWK
       490        500        510        520        530        540
FLEKYPSAEV ARTADWRDVS ELLKPLGLYD LRAKTIVKFS DEYLTKQWKY PIELHGIGKY
       550        560        570        580
GNDSYRIFCV NEWKQVHPED HKLNKYHDWL WENHEKLSLS  

Encoded by MBD4 gene

FULL NAME: methyl-CpG binding domain protein 4


OTHER NAME(S):
MED1


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. MBD4 may function to mediate the biological consequences of the methylation signal. In addition, MBD4 has protein sequence similarity to bacterial DNA repair enzymes and thus may have some function in DNA repair. Further, MBD4 gene mutations are detected in tumors with primary microsatellite-instability (MSI), a form of genomic instability associated with defective DNA mismatch repair, and MBD4 gene meets 4 of 5 criteria of a bona fide MIS target gene. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atgggcacga ctgggctgga gagtctgagt ctgggggacc gcggagctgc ccccaccgtc
        70         80         90        100        110        120
acctctagtg agcgcctagt cccagacccg ccgaatgacc tccgcaaaga agatgttgct
       130        140        150        160        170        180
atggaattgg aaagagtggg agaagatgag gaacaaatga tgataaaaag aagcagtgaa
       190        200        210        220        230        240
tgtaatccct tgctacaaga acccatcgct tctgctcagt ttggtgctac tgcaggaaca
       250        260        270        280        290        300
gaatgccgta agtctgtccc atgtggatgg gaaagagttg tgaagcaaag gttatttggg
       310        320        330        340        350        360
aagacagcag gaagatttga tgtgtacttt atcagcccac aaggactgaa gttcagatcc
       370        380        390        400        410        420
aaaagttcac ttgctaatta tcttcacaaa aatggagaga cttctcttaa gccagaagat
       430        440        450        460        470        480
tttgatttta ctgtactttc taaaaggggt atcaagtcaa gatataaaga ctgcagcatg
       490        500        510        520        530        540
gcagccctga catcccatct acaaaaccaa agtaacaatt caaactggaa cctcaggacc
       550        560        570        580        590        600
cgaagcaagt gcaaaaagga tgtgtttatg ccgccaagta gtagttcaga gttgcaggag
       610        620        630        640        650        660
agcagaggac tctctaactt tacttccact catttgcttt tgaaagaaga tgagggtgtt
       670        680        690        700        710        720
gatgatgtta acttcagaaa ggttagaaag cccaaaggaa aggtgactat tttgaaagga
       730        740        750        760        770        780
atcccaatta agaaaactaa aaaaggatgt aggaagagct gttcaggttt tgttcaaagt
       790        800        810        820        830        840
gatagcaaaa gagaatctgt gtgtaataaa gcagatgctg aaagtgaacc tgttgcacaa
       850        860        870        880        890        900
aaaagtcagc ttgatagaac tgtctgcatt tctgatgctg gagcatgtgg tgagaccctc
       910        920        930        940        950        960
agtgtgacca gtgaagaaaa cagccttgta aaaaaaaaag aaagatcatt gagttcagga
       970        980        990       1000       1010       1020
tcaaattttt gttctgaaca aaaaacttct ggcatcataa acaaattttg ttcagccaaa
      1030       1040       1050       1060       1070       1080
gactcagaac acaacgagaa gtatgaggat acctttttag aatctgaaga aatcggaaca
      1090       1100       1110       1120       1130       1140
aaagtagaag ttgtggaaag gaaagaacat ttgcatactg acattttaaa acgtggctct
      1150       1160       1170       1180       1190       1200
gaaatggaca acaactgctc accaaccagg aaagacttca ctggtgagaa aatatttcaa
      1210       1220       1230       1240       1250       1260
gaagatacca tcccacgaac acagatagaa agaaggaaaa caagcctgta tttttccagc
      1270       1280       1290       1300       1310       1320
aaatataaca aagaagctct tagcccccca cgacgtaaag cctttaagaa atggacacct
      1330       1340       1350       1360       1370       1380
cctcggtcac cttttaatct cgttcaagaa acactttttc atgatccatg gaagcttctc
      1390       1400       1410       1420       1430       1440
atcgctacta tatttctcaa tcggacctca ggcaaaatgg caatacctgt gctttggaag
      1450       1460       1470       1480       1490       1500
tttctggaga agtatccttc agctgaggta gcaagaaccg cagactggag agatgtgtca
      1510       1520       1530       1540       1550       1560
gaacttctta aacctcttgg tctctacgat cttcgggcaa aaaccattgt caagttctca
      1570       1580       1590       1600       1610       1620
gatgaatacc tgacaaagca gtggaagtat ccaattgagc ttcatgggat tggtaaatat
      1630       1640       1650       1660       1670       1680
ggcaacgact cttaccgaat tttttgtgtc aatgagtgga agcaggtgca ccctgaagac
      1690       1700       1710       1720       1730       1740
cacaaattaa ataaatatca tgactggctt tgggaaaatc atgaaaaatt aagtctatct

taa     

Last modification date: Oct. 2, 2011