MBD1 - methyl-CpG binding domain protein 1 Gene

Also Known as RFT; PCM1; CXXC3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4152

About MBD1

Cytogenetic location: 18q21.1 Genomic coordinates (GRCh38): 18:50,266,885-50,281,767 (from NCBI)

This gene has 28 transcripts (splice variants), 182 orthologues and 8 paralogues. Ubiquitous expression in testis (RPKM 18.8), bone marrow (RPKM 9.7) and 25 other tissues.

Summary

The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011]

MBD1 Products (147)

mRNA Protein Name
NM_001204136.2 NP_001191065.1 methyl-CpG-binding domain protein 1 isoform 6
NM_001204137.2 NP_001191066.1 methyl-CpG-binding domain protein 1 isoform 7
NM_001204138.2 NP_001191067.1 methyl-CpG-binding domain protein 1 isoform 8
NM_001204139.2 NP_001191068.1 methyl-CpG-binding domain protein 1 isoform 1
NM_001204140.2 NP_001191069.1 methyl-CpG-binding domain protein 1 isoform 9
NM_001204141.2 NP_001191070.1 methyl-CpG-binding domain protein 1 isoform 10
NM_001204142.2 NP_001191071.1 methyl-CpG-binding domain protein 1 isoform 11
NM_001204143.2 NP_001191072.1 methyl-CpG-binding domain protein 1 isoform 12
NM_001204151.3 NP_001191080.1 methyl-CpG-binding domain protein 1 isoform 13
NM_001323942.2 NP_001310871.1 methyl-CpG-binding domain protein 1 isoform 14
NM_001323947.2 NP_001310876.1 methyl-CpG-binding domain protein 1 isoform 15
NM_001323949.2 NP_001310878.1 methyl-CpG-binding domain protein 1 isoform 16
NM_001323950.2 NP_001310879.1 methyl-CpG-binding domain protein 1 isoform 17
NM_001323951.2 NP_001310880.1 methyl-CpG-binding domain protein 1 isoform 18
NM_001323952.2 NP_001310881.1 methyl-CpG-binding domain protein 1 isoform 19
NM_001323953.2 NP_001310882.1 methyl-CpG-binding domain protein 1 isoform 20
NM_001323954.2 NP_001310883.1 methyl-CpG-binding domain protein 1 isoform 21
NM_001388138.1 NP_001375067.1 methyl-CpG-binding domain protein 1 isoform 1
NM_001388139.1 NP_001375068.1 methyl-CpG-binding domain protein 1 isoform 42
NM_001388140.1 NP_001375069.1 methyl-CpG-binding domain protein 1 isoform 7
NM_001388141.1 NP_001375070.1 methyl-CpG-binding domain protein 1 isoform 43
NM_001388142.1 NP_001375071.1 methyl-CpG-binding domain protein 1 isoform 9
NM_001388143.1 NP_001375072.1 methyl-CpG-binding domain protein 1 isoform 9
NM_001388144.1 NP_001375073.1 methyl-CpG-binding domain protein 1 isoform 12
NM_001388145.1 NP_001375074.1 methyl-CpG-binding domain protein 1 isoform 22
NM_001388146.1 NP_001375075.1 methyl-CpG-binding domain protein 1 isoform 23
NM_001388147.1 NP_001375076.1 methyl-CpG-binding domain protein 1 isoform 24
NM_001388148.1 NP_001375077.1 methyl-CpG-binding domain protein 1 isoform 25
NM_001388149.1 NP_001375078.1 methyl-CpG-binding domain protein 1 isoform 26
NM_001388150.1 NP_001375079.1 methyl-CpG-binding domain protein 1 isoform 27
NM_001388151.1 NP_001375080.1 methyl-CpG-binding domain protein 1 isoform 28
NM_001388152.1 NP_001375081.1 methyl-CpG-binding domain protein 1 isoform 29
NM_001388153.1 NP_001375082.1 methyl-CpG-binding domain protein 1 isoform 30
NM_001388154.1 NP_001375083.1 methyl-CpG-binding domain protein 1 isoform 30
NM_001388155.1 NP_001375084.1 methyl-CpG-binding domain protein 1 isoform 31
NM_001388156.1 NP_001375085.1 methyl-CpG-binding domain protein 1 isoform 32
NM_001388157.1 NP_001375086.1 methyl-CpG-binding domain protein 1 isoform 33
NM_001388158.1 NP_001375087.1 methyl-CpG-binding domain protein 1 isoform 34
NM_001388159.1 NP_001375088.1 methyl-CpG-binding domain protein 1 isoform 35
NM_001388160.1 NP_001375089.1 methyl-CpG-binding domain protein 1 isoform 35
NM_001388161.1 NP_001375090.1 methyl-CpG-binding domain protein 1 isoform 36
NM_001388162.1 NP_001375091.1 methyl-CpG-binding domain protein 1 isoform 37
NM_001388163.1 NP_001375092.1 methyl-CpG-binding domain protein 1 isoform 44
NM_001388164.1 NP_001375093.1 methyl-CpG-binding domain protein 1 isoform 38
NM_001388165.1 NP_001375094.1 methyl-CpG-binding domain protein 1 isoform 39
NM_001388166.1 NP_001375095.1 methyl-CpG-binding domain protein 1 isoform 40
NM_001388167.1 NP_001375096.1 methyl-CpG-binding domain protein 1 isoform 41
NM_001399879.1 NP_001386808.1 methyl-CpG-binding domain protein 1 isoform 45
NM_001399880.1 NP_001386809.1 methyl-CpG-binding domain protein 1 isoform 46
NM_001399881.1 NP_001386810.1 methyl-CpG-binding domain protein 1 isoform 47
NM_001399882.1 NP_001386811.1 methyl-CpG-binding domain protein 1 isoform 48
NM_001399883.1 NP_001386812.1 methyl-CpG-binding domain protein 1 isoform 49
NM_001399884.1 NP_001386813.1 methyl-CpG-binding domain protein 1 isoform 50
NM_001399885.1 NP_001386814.1 methyl-CpG-binding domain protein 1 isoform 51
NM_001399886.1 NP_001386815.1 methyl-CpG-binding domain protein 1 isoform 7
NM_001399887.1 NP_001386816.1 methyl-CpG-binding domain protein 1 isoform 52
NM_001399888.1 NP_001386817.1 methyl-CpG-binding domain protein 1 isoform 43
NM_001399889.1 NP_001386818.1 methyl-CpG-binding domain protein 1 isoform 53
NM_001399890.1 NP_001386819.1 methyl-CpG-binding domain protein 1 isoform 54
NM_001399891.1 NP_001386820.1 methyl-CpG-binding domain protein 1 isoform 55
NM_001399892.1 NP_001386821.1 methyl-CpG-binding domain protein 1 isoform 56
NM_001399893.1 NP_001386822.1 methyl-CpG-binding domain protein 1 isoform 57
NM_001399894.1 NP_001386823.1 methyl-CpG-binding domain protein 1 isoform 58
NM_001399895.1 NP_001386824.1 methyl-CpG-binding domain protein 1 isoform 59
NM_001399896.1 NP_001386825.1 methyl-CpG-binding domain protein 1 isoform 60
NM_001399897.1 NP_001386826.1 methyl-CpG-binding domain protein 1 isoform 1
NM_001399898.1 NP_001386827.1 methyl-CpG-binding domain protein 1 isoform 1
NM_001399899.1 NP_001386828.1 methyl-CpG-binding domain protein 1 isoform 61
NM_001399900.1 NP_001386829.1 methyl-CpG-binding domain protein 1 isoform 61
NM_001399901.1 NP_001386830.1 methyl-CpG-binding domain protein 1 isoform 61
NM_001399902.1 NP_001386831.1 methyl-CpG-binding domain protein 1 isoform 61
NM_001399903.1 NP_001386832.1 methyl-CpG-binding domain protein 1 isoform 62
NM_001399904.1 NP_001386833.1 methyl-CpG-binding domain protein 1 isoform 63
NM_001399905.1 NP_001386834.1 methyl-CpG-binding domain protein 1 isoform 64
NM_001399906.1 NP_001386835.1 methyl-CpG-binding domain protein 1 isoform 65
NM_001399907.1 NP_001386836.1 methyl-CpG-binding domain protein 1 isoform 66
NM_001399908.1 NP_001386837.1 methyl-CpG-binding domain protein 1 isoform 67
NM_001399909.1 NP_001386838.1 methyl-CpG-binding domain protein 1 isoform 68
NM_001399910.1 NP_001386839.1 methyl-CpG-binding domain protein 1 isoform 69
NM_001399911.1 NP_001386840.1 methyl-CpG-binding domain protein 1 isoform 70
NM_001399912.1 NP_001386841.1 methyl-CpG-binding domain protein 1 isoform 70
NM_001399913.1 NP_001386842.1 methyl-CpG-binding domain protein 1 isoform 70
NM_001399914.1 NP_001386843.1 methyl-CpG-binding domain protein 1 isoform 70
NM_001399915.1 NP_001386844.1 methyl-CpG-binding domain protein 1 isoform 120
NM_001399916.1 NP_001386845.1 methyl-CpG-binding domain protein 1 isoform 71
NM_001399917.1 NP_001386846.1 methyl-CpG-binding domain protein 1 isoform 72
NM_001399918.1 NP_001386847.1 methyl-CpG-binding domain protein 1 isoform 73
NM_001399919.1 NP_001386848.1 methyl-CpG-binding domain protein 1 isoform 74
NM_001399920.1 NP_001386849.1 methyl-CpG-binding domain protein 1 isoform 75
NM_001399921.1 NP_001386850.1 methyl-CpG-binding domain protein 1 isoform 76
NM_001399922.1 NP_001386851.1 methyl-CpG-binding domain protein 1 isoform 77
NM_001399923.1 NP_001386852.1 methyl-CpG-binding domain protein 1 isoform 78
NM_001399924.1 NP_001386853.1 methyl-CpG-binding domain protein 1 isoform 79
NM_001399925.1 NP_001386854.1 methyl-CpG-binding domain protein 1 isoform 80
NM_001399926.1 NP_001386855.1 methyl-CpG-binding domain protein 1 isoform 81
NM_001399927.1 NP_001386856.1 methyl-CpG-binding domain protein 1 isoform 82
NM_001399928.1 NP_001386857.1 methyl-CpG-binding domain protein 1 isoform 83
NM_001399929.1 NP_001386858.1 methyl-CpG-binding domain protein 1 isoform 84
NM_001399930.1 NP_001386859.1 methyl-CpG-binding domain protein 1 isoform 85
NM_001399931.1 NP_001386860.1 methyl-CpG-binding domain protein 1 isoform 86
NM_001399932.1 NP_001386861.1 methyl-CpG-binding domain protein 1 isoform 87
NM_001399933.1 NP_001386862.1 methyl-CpG-binding domain protein 1 isoform 88
NM_001399934.1 NP_001386863.1 methyl-CpG-binding domain protein 1 isoform 44
NM_001399935.1 NP_001386864.1 methyl-CpG-binding domain protein 1 isoform 89
NM_001399936.1 NP_001386865.1 methyl-CpG-binding domain protein 1 isoform 90
NM_001399937.1 NP_001386866.1 methyl-CpG-binding domain protein 1 isoform 91
NM_001399938.1 NP_001386867.1 methyl-CpG-binding domain protein 1 isoform 92
NM_001399939.1 NP_001386868.1 methyl-CpG-binding domain protein 1 isoform 93
NM_001399940.1 NP_001386869.1 methyl-CpG-binding domain protein 1 isoform 93
NM_001399941.1 NP_001386870.1 methyl-CpG-binding domain protein 1 isoform 3
NM_001399942.1 NP_001386871.1 methyl-CpG-binding domain protein 1 isoform 3
NM_001399943.1 NP_001386872.1 methyl-CpG-binding domain protein 1 isoform 94
NM_001399944.1 NP_001386873.1 methyl-CpG-binding domain protein 1 isoform 95
NM_001399945.1 NP_001386874.1 methyl-CpG-binding domain protein 1 isoform 96
NM_001399946.1 NP_001386875.1 methyl-CpG-binding domain protein 1 isoform 97
NM_001399947.1 NP_001386876.1 methyl-CpG-binding domain protein 1 isoform 98
NM_001399948.1 NP_001386877.1 methyl-CpG-binding domain protein 1 isoform 98
NM_001399949.1 NP_001386878.1 methyl-CpG-binding domain protein 1 isoform 99
NM_001399950.1 NP_001386879.1 methyl-CpG-binding domain protein 1 isoform 100
NM_001399952.1 NP_001386881.1 methyl-CpG-binding domain protein 1 isoform 101
NM_001399953.1 NP_001386882.1 methyl-CpG-binding domain protein 1 isoform 102
NM_001399954.1 NP_001386883.1 methyl-CpG-binding domain protein 1 isoform 103
NM_001399955.1 NP_001386884.1 methyl-CpG-binding domain protein 1 isoform 104
NM_001399956.1 NP_001386885.1 methyl-CpG-binding domain protein 1 isoform 105
NM_001399957.1 NP_001386886.1 methyl-CpG-binding domain protein 1 isoform 4
NM_001399958.1 NP_001386887.1 methyl-CpG-binding domain protein 1 isoform 106
NM_001399959.1 NP_001386888.1 methyl-CpG-binding domain protein 1 isoform 107
NM_001399960.1 NP_001386889.1 methyl-CpG-binding domain protein 1 isoform 108
NM_001399961.1 NP_001386890.1 methyl-CpG-binding domain protein 1 isoform 109
NM_001399962.1 NP_001386891.1 methyl-CpG-binding domain protein 1 isoform 110
NM_001399963.1 NP_001386892.1 methyl-CpG-binding domain protein 1 isoform 111
NM_001399964.1 NP_001386893.1 methyl-CpG-binding domain protein 1 isoform 111
NM_001399965.1 NP_001386894.1 methyl-CpG-binding domain protein 1 isoform 112
NM_001399966.1 NP_001386895.1 methyl-CpG-binding domain protein 1 isoform 113
NM_001399967.1 NP_001386896.1 methyl-CpG-binding domain protein 1 isoform 114
NM_001399968.1 NP_001386897.1 methyl-CpG-binding domain protein 1 isoform 114
NM_001399970.1 NP_001386899.1 methyl-CpG-binding domain protein 1 isoform 114
NM_001399971.1 NP_001386900.1 methyl-CpG-binding domain protein 1 isoform 115
NM_001399973.1 NP_001386902.1 methyl-CpG-binding domain protein 1 isoform 116
NM_001399974.1 NP_001386903.1 methyl-CpG-binding domain protein 1 isoform 117
NM_001399975.1 NP_001386904.1 methyl-CpG-binding domain protein 1 isoform 118
NM_001399976.1 NP_001386905.1 methyl-CpG-binding domain protein 1 isoform 119
NM_002384.3 NP_002375.1 methyl-CpG-binding domain protein 1 isoform 4
NM_015844.3 NP_056669.2 methyl-CpG-binding domain protein 1 isoform 3
NM_015845.4 NP_056670.2 methyl-CpG-binding domain protein 1 isoform 2
NM_015846.4 NP_056671.2 methyl-CpG-binding domain protein 1 isoform 1
NM_015847.4 NP_056723.2 methyl-CpG-binding domain protein 1 isoform 5

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables double-stranded methylated DNA binding IDA
IDA: Inferred from direct assay
11371345 GOA
enables methyl-CpG binding IDA
IDA: Inferred from direct assay
25284789 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12665582 GOA
enables unmethylated CpG binding IDA
IDA: Inferred from direct assay
29276034 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
29276034 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MBD1 Protein Structure

MBD

MBD: Methyl-CpG binding domain (3 - 67)

zf-CXXC

zf-CXXC: CXXC zinc finger domain (169 - 215)

zf-CXXC

zf-CXXC: CXXC zinc finger domain (219 - 262)

zf-CXXC

zf-CXXC: CXXC zinc finger domain (331 - 377)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 605 a.a.
Protein Preferred Names Protein Names

methyl-CpG-binding domain protein 1

  • CXXC-type zinc finger protein 3

MBD1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MBD1 Q9UIS9 CHAF1A Homo sapiens Q13111
Anti Bait CoIP
17066076
Intra
MBD1 Q9UIS9 CHAF1A Homo sapiens Q13111
Y2H
17066076
Intra
MBD1 Q9UIS9 PIAS3 Homo sapiens Q9Y6X2
Y2H
17066076
Intra
MBD1 Q9UIS9 PIAS3 Homo sapiens Q9Y6X2
Anti Bait CoIP
17066076
Intra
MBD1 Q9UIS9 HDAC2 Homo sapiens Q92769
Anti Tag CoIP
12711603
Intra
MBD1 Q9UIS9 HDAC1 Homo sapiens Q13547
Pull Down
12711603
Intra
MBD1 Q9UIS9 HDAC1 Homo sapiens Q13547
Anti Tag CoIP
12711603
Intra
MBD1 Q9UIS9 SUV39H1 Homo sapiens O43463
Anti Tag CoIP
12711603
Intra
MBD1 Q9UIS9 HTT Homo sapiens P42858
Y2H Prey Pooling
23275563
Intra
MBD1 Q9UIS9 HDAC3 Homo sapiens O15379
Pull Down
16432238
Intra
MBD1 Q9UIS9 HDAC3 Homo sapiens O15379
Anti Bait CoIP
16432238
Intra
MBD1 Q9UIS9 PIAS1 Homo sapiens O75925
Y2H
17066076
Intra
MBD1 Q9UIS9 CBX5 Homo sapiens P45973
Anti Tag CoIP
12711603
Intra
MBD1 Q9UIS9 CBX5 Homo sapiens P45973
Anti Tag CoIP
19498464
Intra
MBD1 Q9UIS9 CBX5 Homo sapiens P45973
Anti Bait CoIP
12711603
Intra
MBD1 Q9UIS9 SETDB1 Homo sapiens Q15047
Anti Bait CoIP
17066076
Intra
MBD1 Q9UIS9 SETDB1 Homo sapiens Q15047
Pull Down
17066076
Intra
MBD1 Q9UIS9 SUMO1 Homo sapiens P63165
Anti Bait CoIP
17066076
Intra
MBD1 Q9UIS9 PML-RAR Homo sapiens Q15156
Anti Bait CoIP
16432238
Cross: Cross-species interaction Intra: Intraspecies interaction

MBD1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82696 MBD1 Antibody (YA2441) WB, IHC-P, ICC/IF, IP Human

Related Diseases

Diseases Alias
Otopalatodigital Syndrome, Type I

  • Otopalatodigital Syndrome Type 1

  • Taybi Syndrome

  • OPD1

  • Opd Syndrome 1

  • Oto-Palato-Digital Syndrome Type 1

  • Opd I Syndrome

  • Oto-Palato-Digital Syndrome, Type I

  • Otopalatodigital Syndrome Type I

  • Opd Syndrome

  • Cranioorodigital Syndrome

  • Faciopalatoosseous Syndrome

  • Fpo

  • Opd Syndrome, Type 1

  • Otopalatodigital Syndrome 1
Rett Syndrome

  • Atypical Rett Syndrome

  • RTT

  • Rett Disorder

  • Rts

  • Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

  • Rett Syndrome, Preserved Speech Variant

  • Rett Syndrome, Atypical

  • Rett'S Disorder

  • Rett Syndrome Variant

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

  • Cerebroatrophic Hyperammonemia

  • Rett Like Syndrome

  • Rett'S Syndrome

  • Atypical Rtt

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

  • Rett Syndrome Preserved Speech Variant

  • Rett Syndrome Zappella Variant

  • Rett Syndrome, Zappella Variant
Otopalatodigital Syndrome Spectrum Disorder

  • Opd Spectrum Disorder

  • Opsd

  • Fronto-Otopalatodigital Osteodysplasia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Clinical Phase
  • Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Phase
HY-159978 EOS789 Inhibitor 99.14% Phase 1

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03947 DPEP1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS08181 MBD1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22228 Mbd1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28750 Mbd1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta MBD1 VGNC VGNC:74669
Rattus norvegicus MBD1 RGD RGD:1305980
Bos taurus MBD1 VGNC VGNC:31273
Canis familiaris MBD1 VGNC VGNC:43049
Mus musculus MBD1 MGD MGI:1333811
Felis catus MBD1 VGNC VGNC:68198
Others MBD1 NCBI