MBD1

MBD1 Gene 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]

Details

Type
Protein Coding
Official Symbol
MBD1
Official Name
methyl-CpG binding domain protein 1 [Source:HGNC Symbol;Acc:HGNC:6916]
Ensembl ID
ENSG00000141644
Bio databases IDs NCBI: 4152 Ensembl: ENSG00000141644
Aliases methyl-CpG binding domain protein 1
Synonyms
CXXC3,methyl-CpG binding domain protein 1,PCM1,RFT
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • transcription regulator
  • nuclear localization sequence
  • chromatin binding
  • protein binding
  • DNA binding
  • unmethylated CpG binding
  • transcription repression domain
  • zinc ion binding
  • double-stranded DNA binding
  • methyl-CpG binding
  • CXXC zinc finger
  • CXXC zinc finger domain
  • MBD
  • cysteine rich domain

Pathways

Biological processes and signaling networks where the MBD1 gene plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
  • SMAD5
  • ZNF384
  • ECT2
  • HDAC1
  • ATF7IP2
  • LTBP4
  • RNR
  • EEF1G
  • CCDC136
  • SHMT2
disease
  • rheumatoid arthritis
regulated by
  • SMAD4
  • TGFB1
  • ESR1
  • fluoxetine
  • decitabine
  • WWTR1
  • YAP1
  • CD3 (complex)
  • MBD1
  • cocaine
regulates
  • RNA polymerase II
  • reporter gene
  • DNA promoter
  • DNA endogenous promoter
  • TK1
  • RNR
  • HOXA7
  • ATF7IP
  • MBD1
  • CDKN2A
role in cell
  • cell death
  • growth
  • differentiation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • heterochromatin
  • intracellular membrane-bounded organelle
  • Cytoplasm
  • nuclear foci
  • nucleoplasm
  • nucleoli
  • nuclear speckles
  • nuclear matrix
  • centromeric heterochromatin
  • chromatin
  • euchromatin compartments
  • heterochromatic compartments

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the MBD1 gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • negative regulation of gene expression
  • ventricular cardiac muscle tissue development
  • negative regulation of transcription, DNA-dependent
  • neuron differentiation
  • response to estradiol stimulus
  • response to cocaine
  • transcription from RNA polymerase II promoter
  • negative regulation of astrocyte differentiation
  • response to xenobiotic stimulus
  • response to nutrient levels
  • regulation of gene expression, epigenetic

CELLULAR COMPONENT

Where in the cell the gene product is active
  • nucleus
  • nuclear speck
  • intracellular membrane-bounded organelle
  • nuclear matrix
  • chromatin
  • nucleoplasm

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • DNA binding
  • zinc ion binding
  • double-stranded methylated DNA binding
  • protein binding
  • unmethylated CpG binding
  • chromatin binding
  • methyl-CpG binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.