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Comments and Description Text from UniProtKB
ID:TET1_HUMAN DESCRIPTION: RecName: Full=Methylcytosine dioxygenase TET1; EC=1.14.11.n2; AltName: Full=CXXC-type zinc finger protein 6; AltName: Full=Leukemia-associated protein with a CXXC domain; AltName: Full=Ten-eleven translocation 1 gene protein; FUNCTION: 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. CATALYTIC ACTIVITY: DNA 5-methylcytosine + 2-oxoglutarate + O(2) = DNA 5-hydroxymethylcytosine + succinate + CO(2). COFACTOR: Binds 1 Fe(2+) ion per subunit. SUBUNIT: Interacts with SIN3A; recruits the transcriptional co- repressor SIN3A to gene promoters. SUBCELLULAR LOCATION: Nucleus (Probable). TISSUE SPECIFICITY: Expressed in fetal heart, lung and brain, and in adult skeletal muscle, thymus and ovary. Not detected in adult heart, lung or brain. DISEASE: Note=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'. SIMILARITY: Belongs to the TET family. SIMILARITY: Contains 1 CXXC-type zinc finger. SEQUENCE CAUTION: Sequence=CAD28467.3; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Pfam Domains: PF12851 - Oxygenase domain of the 2OGFeDO superfamily PF02008 - CXXC zinc finger domain
ModBase Predicted Comparative 3D Structure on Q8NFU7
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Other Names for This Gene
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Methods, Credits, and Use Restrictions
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