• Gene id: 85509

Gene Summary

• Gene Symbol: MBD3L1   Gene   UCSC   Ensembl
• Aliases: MBD3L
• Gene name: methyl-CpG binding domain protein 3 like 1
• Alternate names: methyl-CpG-binding domain protein 3-like 1, MBD3-like protein 1,
• Gene location: 19p13.2 (8842592: 8843339)     Exons: 1     NC_000019.10
• Gene summary(Entrez): This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein is localized to discrete areas in the nucleus, and expression appears to be restricted to round spermatids, suggesting that the
• OMIM: 607963

Protein Summary

• Protein general information: Q8WWY6  
  • Name: Methyl CpG binding domain protein 3 like 1 (MBD3 like protein 1)
  • Length: 194  
  • Mass: 21,616
• Sequence:

  MAKSSQRKQRDCVNQCKSKPGLSTSIPLRMSSYTFKRPVTRITPHPGNEVRYHQWEESLEKPQQVCWQRRLQGLQ
  AYSSAGELSSTLDLANTLQKLVPSYTGGSLLEDLASGLEHSCPMPHLACSSDAVEIIPAEGVGISQLLCKQFLVT
  EEDIRKQEGKVKTVRERLAIALIADGLANEAEKVRDQEGRPEKR

• Structural information:
  • Interpro: IPR032343  IPR025884  
  • STRING: ENSP00000304198
• Other Databases: GeneCards:  MBD3L1  Malacards:  MBD3L1

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:0005634	nucleus	IBA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006346	methylation-dependent chromatin silencing	IBA	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0008327	methyl-CpG binding	IBA	molecular function
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	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:0008327	methyl-CpG binding	IBA	molecular function
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006346	methylation-dependent chromatin silencing	IBA	biological process
GO:0008327	methyl-CpG binding	IBA	molecular function

Diseases

Associated diseases	References
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881