Disease	Score

Substances	Interaction	Organism	Category

Substances	Interaction	Organism	Category

     From NCBI Gene: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiencyFrom UniProt: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1): A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. [MIM:242860]

     From NCBI Gene: CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation . The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] From UniProt: Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation . Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Function as transcriptional corepressor by associating with ZHX1.

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

The following transcription factors affect gene expression:

• p53

Tissue specificity:

Ubiquitous; highly expressed in fetal liver, heart, kidney, placenta, and at lower levels in spleen, colon, brain, liver, small intestine, lung, peripheral blood mononuclear cells, and skeletal muscle. Isoform 1 is expressed in all tissues except brain, skeletal muscle and PBMC, 3 is ubiquitous, 4 is expressed in all tissues except brain, skeletal muscle, lung and prostate and 5 is detectable only in testis and at very low level in brain and prostate.

Enzyme Regulation:

Activated by binding to the regulatory factor DNMT3L.

Molecular Function:

• Chromatin Binding
• Dna (Cytosine-5-)-Methyltransferase Activity
• Dna (Cytosine-5-)-Methyltransferase Activity, Acting On Cpg Substrates
• Dna-Methyltransferase Activity
• Metal Ion Binding
• Transcription Corepressor Activity
• Unmethylated Cpg Binding

Biological Processes:

• Cellular Response To Dexamethasone Stimulus
• Cellular Response To Hyperoxia
• Dna Methylation
• Dna Methylation On Cytosine Within A Cg Sequence
• Negative Regulation Of Gene Expression, Epigenetic
• Negative Regulation Of Histone H3-K9 Methylation
• Negative Regulation Of Transcription From Rna Polymerase Ii Promoter
• Positive Regulation Of Gene Expression
• Positive Regulation Of Histone H3-K4 Methylation
• Positive Regulation Of Neuron Differentiation
• Response To Caffeine
• Response To Cocaine
• Response To Estradiol
• Response To Hypoxia
• Response To Ionizing Radiation
• Response To Toxic Substance
• Response To Vitamin A
• S-Adenosylhomocysteine Metabolic Process
• S-Adenosylmethioninamine Metabolic Process

*synonyms