KEGG   Homo sapiens (human): 55777
Entry
55777             CDS       T01001                                 
Symbol
MBD5, C2DELq23.1, DEL2Q23.1, MRD1
Name
(RefSeq) methyl-CpG binding domain protein 5
  KO
K23219  methyl-CpG-binding domain protein 5
Organism
hsa  Homo sapiens (human)
Pathway
hsa03083  Polycomb repressive complex
Network
nt06523  Epigenetic regulation by Polycomb complexes
  Element
N01585  Deubiquitination of H2AK119
Disease
H00773  Autosomal dominant intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09126 Chromosome
   03083 Polycomb repressive complex
    55777 (MBD5)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    55777 (MBD5)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   Polycomb repressive complex (PRC) and associated proteins
    PR-DUB complex
     55777 (MBD5)
  Heterochromatin formation proteins
   MBPs (metylated DNA binding proteins)
    55777 (MBD5)
SSDB
Motif
Pfam: PWWP MBD
Other DBs
NCBI-GeneID: 55777
NCBI-ProteinID: NP_060798
OMIM: 611472
HGNC: 20444
Ensembl: ENSG00000204406
UniProt: Q9P267
LinkDB
Position
2:148020927..148516971
AA seq 1494 aa
MNGGKECDGGDKEGGLPAIQVPVGWQRRVDQNGVLYVSPSGSLLSCLEQVKTYLLTDGTC
KCGLECPLILPKVFNFDPGAAVKQRTAEDVKADEDVTKLCIHKRKIIAVATLHKSMEAPH
PSLVLTSPGGGTNATPVVPSRAATPRSVRNKSHEGITNSVMPECKNPFKLMIGSSNAMGR
LYVQELPGSQQQELHPVYPRQRLGSSEHGQKSPFRGSHGGLPSPASSGSQIYGDGSISPR
TDPLGSPDVFTRSNPGFHGAPNSSPIHLNRTPLSPPSVMLHGSPVQSSCAMAGRTNIPLS
PTLTTKSPVMKKPMCNFSTNMEIPRAMFHHKPPQGPPPPPPPSCALQKKPLTSEKDPLGI
LDPIPSKPVNQNPVIINPTSFHSNVHSQVPMMNVSMPPAVVPLPSNLPLPTVKPGHMNHG
SHVQRVQHSASTSLSPSPVTSPVHMMGTGIGRIEASPQRSRSSSTSSDHGNFMMPPVGPQ
ATSSGIKVPPRSPRSTIGSPRPSMPSSPSTKSDGHHQYKDIPNPLIAGISNVLNTPSSAA
FPTASAGSSSVKSQPGLLGMPLNQILNQHNAASFPASSLLSAAAKAQLANQNKLAGNNSS
SSSNSGAVAGSGNTEGHSTLNTMFPPTANMLLPTGEGQSGRAALRDKLMSQQKDALRKRK
QPPTTVLSLLRQSQMDSSAVPKPGPDLLRKQGQGSFPISSMSQLLQSMSCQSSHLSSNST
PGCGASNTALPCSANQLHFTDPSMNSSVLQNIPLRGEAVHCHNANTNFVHSNSPVPNHHL
AGLINQIQASGNCGMLSQSGMALGNSLHPNPPQSRISTSSTPVIPNSIVSSYNQTSSEAG
GSGPSSSIAIAGTNHPAITKTTSVLQDGVIVTTAAGNPLQSQLPIGSDFPFVGQEHALHF
PSNSTSNNHLPHPLNPSLLSSLPISLPVNQQHLLNQNLLNILQPSAGEGDMSSINNTLSN
HQLTHLQSLLNNNQMFPPNQQQQQLLQGYQNLQAFQGQSTIPCPANNNPMACLFQNFQVR
MQEDAALLNKRISTQPGLTALPENPNTTLPPFQDTPCELQPRIDPSLGQQVKDGLVVGGP
GDASVDAIYKAVVDAASKGMQVVITTAVNSTTQISPIPALSAMSAFTASIGDPLNLSSAV
SAVIHGRNMGGVDHDGRLRNSRGARLPKNLDHGKNVNEGDGFEYFKSASCHTSKKQWDGE
QSPRGERNRWKYEEFLDHPGHIHSSPCHERPNNVSTLPFLPGEQHPILLPPRNCPGDKIL
EENFRYNNYKRTMMSFKERLENTVERCAHINGNRPRQSRGFGELLSTAKQDLVLEEQSPS
SSNSLENSLVKDYIHYNGDFNAKSVNGCVPSPSDAKSISSEDDLRNPDSPSSNELIHYRP
RTFNVGDLVWGQIKGLTSWPGKLVREDDVHNSCQQSPEEGKVEPEKLKTLTEGLEAYSRV
RKRNRKSGKLNNHLEAAIHEAMSELDKMSGTVHQIPQGDRQMRPPKPKRRKISR
NT seq 4485 nt   +upstreamnt  +downstreamnt
atgaatggaggcaaagagtgtgacggaggggacaaggaaggaggtcttccagctatacaa
gttcctgtgggttggcagcgtcgtgtggatcaaaatggagtgctttatgtcagtcccagt
gggtctttgttatcttgcttggagcaggttaaaacatacctgcttactgatggaacatgc
aagtgtggcttggaatgtcctcttattcttcccaaggtatttaattttgatcctggagct
gctgtgaaacagagaaccgcagaagatgttaaggcagatgaagatgtcacaaagctatgc
atacataaaagaaaaattattgcagtggccacacttcataaaagcatggaagccccacat
ccttctctggtgctcaccagtcccggaggaggaacaaatgcaactccagtagtaccttct
cgggcagcaactccaagatcagtaagaaataagtctcatgaaggaattacaaattctgta
atgcctgaatgtaagaatcctttcaagttaatgattggatcatcaaatgccatgggaagg
ctatatgtacaagaactgcctggaagccaacaacaagaactccaccctgtctacccccga
cagagattgggcagcagtgaacatggacagaaatctccattccgtggcagccatggaggc
ctgcccagcccagcgtcatcaggttcccagatatatggagatggttcaatctctccaagg
actgacccacttggaagtcctgatgttttcacaagaagtaatcctggttttcatggagct
cccaattctagtcctattcacctgaataggactcctctttctccaccttcagtaatgcta
catggttctcctgtacagtcatcctgtgcaatggctggaaggactaatatacctctttcc
ccaaccttgactacaaagagtccagtaatgaaaaaaccaatgtgtaatttttcaactaat
atggaaataccacgagcaatgttccaccacaaaccaccccaaggcccacctccccctcct
ccaccttcttgtgctcttcagaaaaagccattaacatctgagaaagatccacttggcatt
cttgaccctattcctagtaaaccagtgaatcagaaccctgttatcattaatccaaccagt
ttccattcaaatgtccactctcaggtacctatgatgaatgtaagcatgcctcctgctgtt
gttcctttgccaagtaatctcccattgccaactgtaaaacctggtcacatgaatcatggg
agtcatgtacaaagagttcagcattcagcttcaacctccctgtccccttctccagtgaca
tcccccgtgcacatgatggggactggaattggaaggattgaggcatcgccccaaagatca
cgctcatcttccacatcatcagatcatggaaatttcatgatgccacctgtaggaccccag
gccacttctagtggtattaaggttccacccaggtcaccaaggtcaacaatagggtcccca
aggccatcaatgccatcaagcccttctaccaagtccgatggacatcatcagtacaaggat
atccctaacccattaattgctggaataagtaatgtactaaataccccaagcagtgcagct
tttcctactgcatctgccggaagtagttctgtaaagagtcagcctggtttgctgggaatg
cctttaaatcagatcttgaaccagcacaatgctgcctcctttccagcaagtagtttactc
tcagcagcagccaaagcacagctagcaaatcaaaacaaacttgctggtaacaacagtagc
agcagtagcaattctggagctgttgccggcagtggcaacactgaaggacatagcacttta
aacaccatgttccctcctactgccaacatgcttctcccaacaggtgaagggcaaagtggt
cgagcagcactaagagataagctgatgtctcagcaaaaagacgcattgcggaaaagaaaa
caaccacctacgacagtgttgagtttgctcagacagtctcaaatggatagttctgcagtt
cctaaacctggacctgacttgctaaggaagcagggtcagggttcatttcccatcagttca
atgtctcagttactacagtctatgagttgtcaaagctctcacttgagtagcaatagtacc
ccgggttgtggggcctcaaatactgctttgccttgctctgctaaccagctgcattttaca
gatcccagtatgaactctagtgttcttcagaacatacctttaagaggggaagccgtgcac
tgccacaatgcaaacactaactttgttcacagtaacagtccagtccccaaccaccatctt
gcaggtttaataaatcagattcaggctagcgggaactgtgggatgctcagtcagtcgggc
atggctttaggaaattccttacatcccaatccacctcagtcaagaatttcaacgtcctcc
actccagtgataccaaacagcattgttagcagctataatcaaacaagttctgaagcaggc
ggttcaggaccatcatcctccatagccatagcgggcaccaaccaccctgccatcacaaag
acaacatctgttcttcaagatggcgtcatagtcaccactgcagctggaaacccactgcag
agtcagctacccattgggagtgattttccttttgttggccaggagcacgcacttcatttt
ccatccaacagcacttcaaacaaccatcttccacaccccttgaaccccagcctcctcagt
tctctacctatctctttgccagtgaatcaacagcatctcctaaaccagaatctattaaat
atcctccagccttcagcaggagaaggtgatatgtcatcaataaacaatactttgagtaac
catcaactgactcatctacagtcgctgttaaacaacaatcagatgtttcctccaaatcag
caacagcagcaacttctccaggggtaccagaatctccaggcgttccaaggacagtccaca
attccttgcccagctaacaataaccccatggcttgtctgtttcagaactttcaggtgaga
atgcaggaagatgcagctctcctaaacaaaagaataagcactcagcctgggctcacagca
cttcctgagaatccaaacactacacttccaccttttcaagatacaccttgtgagttgcaa
ccgaggattgacccatctcttggtcaacaggtgaaggatggcctcgttgtgggtggccca
ggtgatgcttccgtagatgccatttacaaagcagttgtcgatgcagccagcaaaggaatg
caggttgtcatcaccactgcagtcaacagtacaactcagatcagccccattccagctctg
agtgccatgagtgccttcactgcctcaattggtgacccattaaatctctccagtgctgtc
agtgcggtcattcatggacggaacatgggaggtgttgatcatgatggtaggctgaggaat
tcaagaggggctcggctgcccaagaatctagaccatgggaaaaatgtgaacgaaggagat
gggtttgaatatttcaagtcagcaagttgccacacatccaaaaaacagtgggacggggag
caaagccccagaggggagcgaaacaggtggaagtacgaggaatttttagatcatccaggc
catatccacagtagtccttgtcatgaaaggcccaacaatgtctctacactgccatttctg
cctggggaacagcacccaatactgttaccaccaagaaactgtccaggggataaaattcta
gaggaaaatttcaggtataataactacaaaagaactatgatgagttttaaggagagacta
gagaacactgtggaaagatgtgcacacataaatgggaatagacctcgacagagtcgggga
tttggagagctgctaagcactgcaaagcaagacctggtcctagaggagcagtctccaagt
tcctcaaatagtttggaaaattctctggtcaaagactacatccattacaatggagacttt
aatgccaaaagcgttaatgggtgtgtgcctagcccttcagatgctaaaagcattagtagt
gaagatgacctaaggaacccagactccccctcttcaaatgaattgatacattatagacca
aggacgttcaatgttggcgacttggtctggggccaaatcaaaggactgacttcctggcct
ggaaaattagtaagagaagacgacgttcacaattcatgtcaacaaagccccgaggaaggg
aaggtggagcccgagaagttgaagacactaacagaaggtttggaagcctacagccgtgtc
cggaaaaggaacagaaaaagtggaaagctaaataaccatttagaagctgctattcatgag
gccatgagtgaactggacaaaatgtctgggactgtacaccaaatcccacagggtgacaga
caaatgagaccccccaaacccaagaggaggaagatctccagataa

DBGET integrated database retrieval system