• Gene id: 4152

Gene Summary

• Gene Symbol: MBD1   Gene   UCSC   Ensembl
• Aliases: CXXC3, PCM1, RFT
• Gene name: methyl-CpG binding domain protein 1
• Alternate names: methyl-CpG-binding domain protein 1, CXXC-type zinc finger protein 3, methyl-CpG binding domain protein 1 isoform PCM1, protein containing methyl-CpG-binding domain 1, the regulator of fibroblast growth factor 2 (FGF-2) transcription,
• Gene location: 18q21.1 (50281773: 50266881)     Exons: 20     NC_000018.10
• Gene summary(Entrez): 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 transcriptio
• OMIM: 156535

Protein Summary

• Protein general information: Q9UIS9  
  • Name: Methyl CpG binding domain protein 1 (CXXC type zinc finger protein 3) (Methyl CpG binding protein MBD1) (Protein containing methyl CpG binding domain 1)
  • Length: 605  
  • Mass: 66,607
• Sequence:

  MAEDWLDCPALGPGWKRREVFRKSGATCGRSDTYYQSPTGDRIRSKVELTRYLGPACDLTLFDFKQGILCYPAPK
  AHPVAVASKKRKKPSRPAKTRKRQVGPQSGEVRKEAPRDETKADTDTAPASFPAPGCCENCGISFSGDGTQRQRL
  KTLCKDCRAQRIAFNREQRMFKRVGCGECAACQVTEDCGACSTCLLQLPHDVASGLFCKCERRRCLRIVERSRGC
  GVCRGCQTQEDCGHCPICLRPPRPGLRRQWKCVQRRCLRGKHARRKGGCDSKMAARRRPGAQPLPPPPPSQSPEP
  TEPHPRALAPSPPAEFIYYCVDEDELQPYTNRRQNRKCGACAACLRRMDCGRCDFCCDKPKFGGSNQKRQKCRWR
  QCLQFAMKRLLPSVWSESEDGAGSPPPYRRRKRPSSARRHHLGPTLKPTLATRTAQPDHTQAPTKQEAGGGFVLP
  PPGTDLVFLREGASSPVQVPGPVAASTEALLQEAQCSGLSWVVALPQVKQEKADTQDEWTPGTAVLTSPVLVPGC
  PSKAVDPGLPSVKQEPPDPEEDKEENKDDSASKLAPEEEAGGAGTPVITEIFSLGGTRFRDTAVWLPRSKDLKKP
  GARKQ

• Structural information:
  • Protein Domains: MBD. (1-69)
  • Interpro: IPR016177  IPR001739  IPR002857  
  • Prosite: PS50982 PS51058
  • PDB: 1D9N 1IG4 4D4W 5W9Q
  • PDBsum: 1D9N 1IG4 4D4W 5W9Q
  • STRING: ENSP00000405268
• Other Databases: GeneCards:  MBD1  Malacards:  MBD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006346	methylation-dependent chromatin silencing	IBA	biological process
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0007507	heart development	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008327	methyl-CpG binding	NAS	molecular function
GO:0008327	methyl-CpG binding	IDA	molecular function
GO:0010385	double-stranded methylated DNA binding	IDA	molecular function
GO:0014076	response to fluoxetine	IEA	biological process
GO:0016363	nuclear matrix	ISS	cellular component
GO:0016607	nuclear speck	ISS	cellular component
GO:0030182	neuron differentiation	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0042220	response to cocaine	IEA	biological process
GO:0044030	regulation of DNA methylation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	NAS	biological process
GO:0048712	negative regulation of astrocyte differentiation	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006346	methylation-dependent chromatin silencing	IBA	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0007507	heart development	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008327	methyl-CpG binding	NAS	molecular function
GO:0008327	methyl-CpG binding	IDA	molecular function
GO:0010385	double-stranded methylated DNA binding	IDA	molecular function
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0014076	response to fluoxetine	IEA	biological process
GO:0016363	nuclear matrix	ISS	cellular component
GO:0016363	nuclear matrix	IEA	cellular component
GO:0016607	nuclear speck	ISS	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0030182	neuron differentiation	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0042220	response to cocaine	IEA	biological process
GO:0044030	regulation of DNA methylation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	NAS	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048712	negative regulation of astrocyte differentiation	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0003677	DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0006346	methylation-dependent chromatin silencing	IBA	biological process
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0008327	methyl-CpG binding	NAS	molecular function
GO:0008327	methyl-CpG binding	IDA	molecular function
GO:0010385	double-stranded methylated DNA binding	IDA	molecular function
GO:0016363	nuclear matrix	ISS	cellular component
GO:0016607	nuclear speck	ISS	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	NAS	biological process

Diseases

Associated diseases	References
Cancer	GAD: 18668384
Chronic lymphocytic leukemia	GAD: 20062064
Cancer (head and neck)	GAD: 20819778
Cancer (lung)	GAD: 16284366
Important for epigenetic reprogramming during spermatogenesis	MIK: 19471314
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Important for epigenetic reprogramming during spermatogenesis.	MIK: 19471314
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
19471314	Important for epigenetic reprogramming during spermatogenesis.				Male infertility	MBD1 and MBD2 isoforms MBD3L1 SUVH39H2 BRDT and EZH2
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881