Homo sapiens L. (human) [HSA]

FULL NAME: Methyl-CpG-binding domain protein 5


DESCRIPTION:
Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro).

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


PROTEIN TYPE(S):
methyl-CpG binding


RELATED DISEASE(S):
mental retardation autosomal dominant type 1 (MRD1)


Amino acids sequence

        10         20         30         40         50         60
MNGGKECDGG DKEGGLPAIQ VPVGWQRRVD QNGVLYVSPS GSLLSCLEQV KTYLLTDGTC
        70         80         90        100        110        120
KCGLECPLIL PKVFNFDPGA AVKQRTAEDV KADEDVTKLC IHKRKIIAVA TLHKSMEAPH
       130        140        150        160        170        180
PSLVLTSPGG GTNATPVVPS RAATPRSVRN KSHEGITNSV MPECKNPFKL MIGSSNAMGR
       190        200        210        220        230        240
LYVQELPGSQ QQELHPVYPR QRLGSSEHGQ KSPFRGSHGG LPSPASSGSQ IYGDGSISPR
       250        260        270        280        290        300
TDPLGSPDVF TRSNPGFHGA PNSSPIHLNR TPLSPPSVML HGSPVQSSCA MAGRTNIPLS
       310        320        330        340        350        360
PTLTTKSPVM KKPMCNFSTN MEIPRAMFHH KPPQGPPPPP PPSCALQKKP LTSEKDPLGI
       370        380        390        400        410        420
LDPIPSKPVN QNPVIINPTS FHSNVHSQVP MMNVSMPPAV VPLPSNLPLP TVKPGHMNHG
       430        440        450        460        470        480
SHVQRVQHSA STSLSPSPVT SPVHMMGTGI GRIEASPQRS RSSSTSSDHG NFMMPPVGPQ
       490        500        510        520        530        540
ATSSGIKVPP RSPRSTIGSP RPSMPSSPST KSDGHHQYKD IPNPLIAGIS NVLNTPSSAA
       550        560        570        580        590        600
FPTASAGSSS VKSQPGLLGM PLNQILNQHN AASFPASSLL SAAAKAQLAN QNKLAGNNSS
       610        620        630        640        650        660
SSSNSGAVAG SGNTEGHSTL NTMFPPTANM LLPTGEGQSG RAALRDKLMS QQKDALRKRK
       670        680        690        700        710        720
QPPTTVLSLL RQSQMDSSAV PKPGPDLLRK QGQGSFPISS MSQLLQSMSC QSSHLSSNST
       730        740        750        760        770        780
PGCGASNTAL PCSANQLHFT DPSMNSSVLQ NIPLRGEAVH CHNANTNFVH SNSPVPNHHL
       790        800        810        820        830        840
AGLINQIQAS GNCGMLSQSG MALGNSLHPN PPQSRISTSS TPVIPNSIVS SYNQTSSEAG
       850        860        870        880        890        900
GSGPSSSIAI AGTNHPAITK TTSVLQDGVI VTTAAGNPLQ SQLPIGSDFP FVGQEHALHF
       910        920        930        940        950        960
PSNSTSNNHL PHPLNPSLLS SLPISLPVNQ QHLLNQNLLN ILQPSAGEGD MSSINNTLSN
       970        980        990       1000       1010       1020
HQLTHLQSLL NNNQMFPPNQ QQQQLLQGYQ NLQAFQGQST IPCPANNNPM ACLFQNFQVR
      1030       1040       1050       1060       1070       1080
MQEDAALLNK RISTQPGLTA LPENPNTTLP PFQDTPCELQ PRIDPSLGQQ VKDGLVVGGP
      1090       1100       1110       1120       1130       1140
GDASVDAIYK AVVDAASKGM QVVITTAVNS TTQISPIPAL SAMSAFTASI GDPLNLSSAV
      1150       1160       1170       1180       1190       1200
SAVIHGRNMG GVDHDGRLRN SRGARLPKNL DHGKNVNEGD GFEYFKSASC HTSKKQWDGE
      1210       1220       1230       1240       1250       1260
QSPRGERNRW KYEEFLDHPG HIHSSPCHER PNNVSTLPFL PGEQHPILLP PRNCPGDKIL
      1270       1280       1290       1300       1310       1320
EENFRYNNYK RTMMSFKERL ENTVERCAHI NGNRPRQSRG FGELLSTAKQ DLVLEEQSPS
      1330       1340       1350       1360       1370       1380
SSNSLENSLV KDYIHYNGDF NAKSVNGCVP SPSDAKSISS EDDLRNPDSP SSNELIHYRP
      1390       1400       1410       1420       1430       1440
RTFNVGDLVW GQIKGLTSWP GKLVREDDVH NSCQQSPEEG KVEPEKLKTL TEGLEAYSRV
      1450       1460       1470       1480       1490
RKRNRKSGKL NNHLEAAIHE AMSELDKMSG TVHQIPQGDR QMRPPKPKRR KISR

Encoded by MBD5 gene

FULL NAME: methyl-CpG binding domain protein 5


OTHER NAME(S):
MRD1
FLJ11113
FLJ30517
KIAA1461


DESCRIPTION:
This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause mental retardation autosomal dominant type 1. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Mar 2010]


Nucleic acid sequence

        10         20         30         40         50         60
atgaatggag gcaaagagtg tgacggaggg gacaaggaag gaggtcttcc agctatacaa
        70         80         90        100        110        120
gttcctgtgg gttggcagcg tcgtgtggat caaaatggag tgctttatgt cagtcccagt
       130        140        150        160        170        180
gggtctttgt tatcttgctt ggagcaggtt aaaacatacc tgcttactga tggaacatgc
       190        200        210        220        230        240
aagtgtggct tggaatgtcc tcttattctt cccaaggtat ttaattttga tcctggagct
       250        260        270        280        290        300
gctgtgaaac agagaaccgc agaagatgtt aaggcagatg aagatgtcac aaagctatgc
       310        320        330        340        350        360
atacataaaa gaaaaattat tgcagtggcc acacttcata aaagcatgga agccccacat
       370        380        390        400        410        420
ccttctctgg tgctcaccag tcccggagga ggaacaaatg caactccagt agtaccttct
       430        440        450        460        470        480
cgggcagcaa ctccaagatc agtaagaaat aagtctcatg aaggaattac aaattctgta
       490        500        510        520        530        540
atgcctgaat gtaagaatcc tttcaagtta atgattggat catcaaatgc catgggaagg
       550        560        570        580        590        600
ctatatgtac aagaactgcc tggaagccaa caacaagaac tccaccctgt ctacccccga
       610        620        630        640        650        660
cagagattgg gcagcagtga acatggacag aaatctccat tccgtggcag ccatggaggc
       670        680        690        700        710        720
ctgcccagcc cagcgtcatc aggttcccag atatatggag atggttcaat ctctccaagg
       730        740        750        760        770        780
actgacccac ttggaagtcc tgatgttttc acaagaagta atcctggttt tcatggagct
       790        800        810        820        830        840
cccaattcta gtcctattca cctgaatagg actcctcttt ctccaccttc agtaatgcta
       850        860        870        880        890        900
catggttctc ctgtacagtc atcctgtgca atggctggaa ggactaatat acctctttcc
       910        920        930        940        950        960
ccaaccttga ctacaaagag tccagtaatg aaaaaaccaa tgtgtaattt ttcaactaat
       970        980        990       1000       1010       1020
atggaaatac cacgagcaat gttccaccac aaaccacccc aaggcccacc tccccctcct
      1030       1040       1050       1060       1070       1080
ccaccttctt gtgctcttca gaaaaagcca ttaacatctg agaaagatcc acttggcatt
      1090       1100       1110       1120       1130       1140
cttgacccta ttcctagtaa accagtgaat cagaaccctg ttatcattaa tccaaccagt
      1150       1160       1170       1180       1190       1200
ttccattcaa atgtccactc tcaggtacct atgatgaatg taagcatgcc tcctgctgtt
      1210       1220       1230       1240       1250       1260
gttcctttgc caagtaatct cccattgcca actgtaaaac ctggtcacat gaatcatggg
      1270       1280       1290       1300       1310       1320
agtcatgtac aaagagttca gcattcagct tcaacctccc tgtccccttc tccagtgaca
      1330       1340       1350       1360       1370       1380
tcccccgtgc acatgatggg gactggaatt ggaaggattg aggcatcgcc ccaaagatca
      1390       1400       1410       1420       1430       1440
cgctcatctt ccacatcatc agatcatgga aatttcatga tgccacctgt aggaccccag
      1450       1460       1470       1480       1490       1500
gccacttcta gtggtattaa ggttccaccc aggtcaccaa ggtcaacaat agggtcccca
      1510       1520       1530       1540       1550       1560
aggccatcaa tgccatcaag cccttctacc aagtccgatg gacatcatca gtacaaggat
      1570       1580       1590       1600       1610       1620
atccctaacc cattaattgc tggaataagt aatgtactaa ataccccaag cagtgcagct
      1630       1640       1650       1660       1670       1680
tttcctactg catctgccgg aagtagttct gtaaagagtc agcctggttt gctgggaatg
      1690       1700       1710       1720       1730       1740
cctttaaatc agatcttgaa ccagcacaat gctgcctcct ttccagcaag tagtttactc
      1750       1760       1770       1780       1790       1800
tcagcagcag ccaaagcaca gctagcaaat caaaacaaac ttgctggtaa caacagtagc
      1810       1820       1830       1840       1850       1860
agcagtagca attctggagc tgttgccggc agtggcaaca ctgaaggaca tagcacttta
      1870       1880       1890       1900       1910       1920
aacaccatgt tccctcctac tgccaacatg cttctcccaa caggtgaagg gcaaagtggt
      1930       1940       1950       1960       1970       1980
cgagcagcac taagagataa gctgatgtct cagcaaaaag acgcattgcg gaaaagaaaa
      1990       2000       2010       2020       2030       2040
caaccaccta cgacagtgtt gagtttgctc agacagtctc aaatggatag ttctgcagtt
      2050       2060       2070       2080       2090       2100
cctaaacctg gacctgactt gctaaggaag cagggtcagg gttcatttcc catcagttca
      2110       2120       2130       2140       2150       2160
atgtctcagt tactacagtc tatgagttgt caaagctctc acttgagtag caatagtacc
      2170       2180       2190       2200       2210       2220
ccgggttgtg gggcctcaaa tactgctttg ccttgctctg ctaaccagct gcattttaca
      2230       2240       2250       2260       2270       2280
gatcccagta tgaactctag tgttcttcag aacatacctt taagagggga agccgtgcac
      2290       2300       2310       2320       2330       2340
tgccacaatg caaacactaa ctttgttcac agtaacagtc cagtccccaa ccaccatctt
      2350       2360       2370       2380       2390       2400
gcaggtttaa taaatcagat tcaggctagc gggaactgtg ggatgctcag tcagtcgggc
      2410       2420       2430       2440       2450       2460
atggctttag gaaattcctt acatcccaat ccacctcagt caagaatttc aacgtcctcc
      2470       2480       2490       2500       2510       2520
actccagtga taccaaacag cattgttagc agctataatc aaacaagttc tgaagcaggc
      2530       2540       2550       2560       2570       2580
ggttcaggac catcatcctc catagccata gcgggcacca accaccctgc catcacaaag
      2590       2600       2610       2620       2630       2640
acaacatctg ttcttcaaga tggcgtcata gtcaccactg cagctggaaa cccactgcag
      2650       2660       2670       2680       2690       2700
agtcagctac ccattgggag tgattttcct tttgttggcc aggagcacgc acttcatttt
      2710       2720       2730       2740       2750       2760
ccatccaaca gcacttcaaa caaccatctt ccacacccct tgaaccccag cctcctcagt
      2770       2780       2790       2800       2810       2820
tctctaccta tctctttgcc agtgaatcaa cagcatctcc taaaccagaa tctattaaat
      2830       2840       2850       2860       2870       2880
atcctccagc cttcagcagg agaaggtgat atgtcatcaa taaacaatac tttgagtaac
      2890       2900       2910       2920       2930       2940
catcaactga ctcatctaca gtcgctgtta aacaacaatc agatgtttcc tccaaatcag
      2950       2960       2970       2980       2990       3000
caacagcagc aacttctcca ggggtaccag aatctccagg cgttccaagg acagtccaca
      3010       3020       3030       3040       3050       3060
attccttgcc cagctaacaa taaccccatg gcttgtctgt ttcagaactt tcaggtgaga
      3070       3080       3090       3100       3110       3120
atgcaggaag atgcagctct cctaaacaaa agaataagca ctcagcctgg gctcacagca
      3130       3140       3150       3160       3170       3180
cttcctgaga atccaaacac tacacttcca ccttttcaag atacaccttg tgagttgcaa
      3190       3200       3210       3220       3230       3240
ccgaggattg acccatctct tggtcaacag gtgaaggatg gcctcgttgt gggtggccca
      3250       3260       3270       3280       3290       3300
ggtgatgctt ccgtagatgc catttacaaa gcagttgtcg atgcagccag caaaggaatg
      3310       3320       3330       3340       3350       3360
caggttgtca tcaccactgc agtcaacagt acaactcaga tcagccccat tccagctctg
      3370       3380       3390       3400       3410       3420
agtgccatga gtgccttcac tgcctcaatt ggtgacccat taaatctctc cagtgctgtc
      3430       3440       3450       3460       3470       3480
agtgcggtca ttcatggacg gaacatggga ggtgttgatc atgatggtag gctgaggaat
      3490       3500       3510       3520       3530       3540
tcaagagggg ctcggctgcc caagaatcta gaccatggga aaaatgtgaa cgaaggagat
      3550       3560       3570       3580       3590       3600
gggtttgaat atttcaagtc agcaagttgc cacacatcca aaaaacagtg ggacggggag
      3610       3620       3630       3640       3650       3660
caaagcccca gaggggagcg aaacaggtgg aagtacgagg aatttttaga tcatccaggc
      3670       3680       3690       3700       3710       3720
catatccaca gtagtccttg tcatgaaagg cccaacaatg tctctacact gccatttctg
      3730       3740       3750       3760       3770       3780
cctggggaac agcacccaat actgttacca ccaagaaact gtccagggga taaaattcta
      3790       3800       3810       3820       3830       3840
gaggaaaatt tcaggtataa taactacaaa agaactatga tgagttttaa ggagagacta
      3850       3860       3870       3880       3890       3900
gagaacactg tggaaagatg tgcacacata aatgggaata gacctcgaca gagtcgggga
      3910       3920       3930       3940       3950       3960
tttggagagc tgctaagcac tgcaaagcaa gacctggtcc tagaggagca gtctccaagt
      3970       3980       3990       4000       4010       4020
tcctcaaata gtttggaaaa ttctctggtc aaagactaca tccattacaa tggagacttt
      4030       4040       4050       4060       4070       4080
aatgccaaaa gcgttaatgg gtgtgtgcct agcccttcag atgctaaaag cattagtagt
      4090       4100       4110       4120       4130       4140
gaagatgacc taaggaaccc agactccccc tcttcaaatg aattgataca ttatagacca
      4150       4160       4170       4180       4190       4200
aggacgttca atgttggcga cttggtctgg ggccaaatca aaggactgac ttcctggcct
      4210       4220       4230       4240       4250       4260
ggaaaattag taagagaaga cgacgttcac aattcatgtc aacaaagccc cgaggaaggg
      4270       4280       4290       4300       4310       4320
aaggtggagc ccgagaagtt gaagacacta acagaaggtt tggaagccta cagccgtgtc
      4330       4340       4350       4360       4370       4380
cggaaaagga acagaaaaag tggaaagcta aataaccatt tagaagctgc tattcatgag
      4390       4400       4410       4420       4430       4440
gccatgagtg aactggacaa aatgtctggg actgtacacc aaatcccaca gggtgacaga
      4450       4460       4470       4480
caaatgagac cccccaaacc caagaggagg aagatctcca gataa 

Last modification date: Oct. 2, 2011