DNMT3A Gene Summary [Human]
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 that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. [provided by RefSeq, Mar 2016]
Details
| Type | Protein Coding |
| Official Symbol | DNMT3A |
| Official Name | DNA methyltransferase 3 alpha [Source:HGNC Symbol;Acc:HGNC:2978] |
| Ensembl ID | ENSG00000119772 |
| Bio databases IDs | |
| Aliases | DNA methyltransferase 3 alpha |
| Synonyms | DNA Methyltransferase 3A, DNA methyltransferase 3 alpha, DNA methyltransferase 3 α, DNA MTase HsaIIIA, DNMT3A2, HESJAS, M.HsaIIIA, MmuIIIA, TBRS |
| Species | Human, Homo sapiens |
| Orthologies |
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 in human DNMT3A 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 co-repressor
- PWWP domain
- transcription factor binding
- chromatin binding
- enzyme
- AdoMet_MTases
- DNA (cytosine-5-)-methyltransferase
- S-adenosylmethionine-dependent methyltransferase
- identical protein binding
- methyltransferase domain
- FYVE domain like superfamily
- protein methyltransferase
- ATRX-homology domain
- catalytic domain
- nucleic acid binding
- PWWP (Pro-Trp-Trp-Pro) domain
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA binding
- Cysteine rich ADD domain in DNMT3
- unmethylated CpG binding
- double-stranded DNA binding
- S-methyltransferase
- DNA-methyltransferase (dcm)
Pathways
Biological processes and signaling networks where the DNMT3A gene in human 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.
disease
- non-insulin-dependent diabetes mellitus
- neoplasia
- endometriosis
- cancer
- Tatton-Brown-Rahman syndrome
- breast adenocarcinoma
- serous ovarian adenocarcinoma
- serous ovarian cancer
- cardiovascular disorder
- lung adenocarcinoma
role in cell
- migration
- accumulation
- apoptosis
- expression in
- proliferation
- production in
- signaling in
- phosphorylation in
- cell death
- formation
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
- chromatin fraction
- nuclear matrix fraction
- heterochromatin
- Cytoplasm
- nuclear foci
- chromosome
- nucleoplasm
- sex chromatin
- nuclear matrix
- centromeres
- chromatin
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DNMT3A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuron differentiation
- spermatogenesis
- response to cocaine
- hypermethylation of CpG island
- response to xenobiotic stimulus
- S-adenosylmethionine metabolic process
- response to toxin
- positive regulation of cellular response to hypoxia
- methylation-dependent chromatin silencing
- hepatocyte apoptotic process
- negative regulation of transcription from RNA polymerase II promoter
- cellular response to ethanol
- cellular response to amino acid stimulus
- negative regulation of transcription, DNA-dependent
- response to estradiol stimulus
- response to vitamin A
- cellular response to hypoxia
- response to lead ion
- chromatin silencing by small RNA
- methylation
- response to ionizing radiation
Cellular Component
Where in the cell the gene product is active
- XY body
- heterochromatin
- nucleus
- euchromatin
- cytoplasm
- nuclear matrix
- chromosome, centromeric region
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA (cytosine-5-)-methyltransferase activity
- DNA binding
- identical protein binding
- protein binding
- transcription corepressor activity
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- unmethylated CpG binding
- chromatin binding