TET1: Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5- hydroxymethylcytosine (5hmC). Might initiate a process leading to cytosine demethylation through deamination into 5- hydroxymethyluracil (5hmU) and subsequent replacement by unmethylated cytosine by the base excision repair system. Methylation at the C5 position of cytosine bases is an epigenetic modification of the mammalian genome which plays an important role in transcriptional regulation. Preferentially binds to CpG-rich sequences at promoters of both transcriptionally active and polycomb-repressed genes. By controlling the levels of 5mC and 5hmC at gene promoters, it may regulate the gene expression silencing induced by cytosine methylation. May have a dual function by also repressing the expression of a subset of genes through recruitment of transcriptional repressors to promoters. Involved in the balance between pluripotency and lineage commitment of cells it plays a role in embryonic stem cells maintenance and inner cell mass cell specification. A chromosomal aberration involving TET1 may be a cause of acute leukemias. Translocation t(10;11)(q22;q23) with MLL. This is a rare chromosomal translocation 5' MLL-TET1 3'. Belongs to the TET family.
Protein type: Oxidoreductase; DNA-binding; EC 1.14.11.n2
Chromosomal Location of Human Ortholog: 10q21
Cellular Component: nucleus
Molecular Function: structure-specific DNA binding; zinc ion binding; iron ion binding
Biological Process: protein amino acid O-linked glycosylation; inner cell mass cell differentiation; transcription, DNA-dependent; stem cell maintenance; gene expression; positive regulation of transcription from RNA polymerase II promoter; chromatin modification; regulation of gene expression, epigenetic
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