Human Gene TET1 (ENST00000373644.5) from GENCODE V44
Description: Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA. (from RefSeq NM_030625) RefSeq Summary (NM_030625): DNA methylation is an epigenetic mechanism that is important for controlling gene expression. The protein encoded by this gene is a demethylase that belongs to the TET (ten-eleven translocation) family. Members of the TET protein family play a role in the DNA methylation process and gene activation. [provided by RefSeq, Sep 2015]. Gencode Transcript: ENST00000373644.5 Gencode Gene: ENSG00000138336.9 Transcript (Including UTRs) Position: hg38 chr10:68,560,337-68,694,487 Size: 134,151 Total Exon Count: 12 Strand: + Coding Region Position: hg38 chr10:68,572,339-68,691,814 Size: 119,476 Coding Exon Count: 11
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;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
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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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003677 DNA binding GO:0005506 iron ion binding GO:0008270 zinc ion binding GO:0016491 oxidoreductase activity GO:0046872 metal ion binding GO:0051213 dioxygenase activity GO:0070579 methylcytosine dioxygenase activity
Biological Process: GO:0001826 inner cell mass cell differentiation GO:0006325 chromatin organization GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006493 protein O-linked glycosylation GO:0008284 positive regulation of cell proliferation GO:0019827 stem cell population maintenance GO:0031062 positive regulation of histone methylation GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0055114 oxidation-reduction process GO:0080111 DNA demethylation GO:0090310 negative regulation of methylation-dependent chromatin silencing
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