Recombinant Human Methylcytosine dioxygenase TET1 (TET1), Truncated

Uniprot Id

Q8NFU7

Target Species

Human

Target Name

TET1

Target Full Name

Methylcytosine dioxygenase TET1

Target Function

Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). In addition to its role in DNA demethylation, plays a more general role in chromatin regulation by recruiting histone modifying protein complexes to alter histone marks and chromatin accessibility, leading to both activation and repression of gene expression. Plays therefore a role in many biological processes and diseases, including stem cell maintenance, T and B-cell development, inflammation regulation, genomic imprinting, neural activity or DNA repair. 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. Plays an important role in the tumorigenicity of glioblastoma cells. TET1-mediated production of 5hmC acts as a recruitment signal for the CHTOP-methylosome complex to selective sites on the chromosome, where it methylates H4R3 and activates the transcription of genes involved in glioblastomagenesis. Binds preferentially to DNA containing cytidine-phosphate-guanosine (CpG) dinucleotides over CpH (H=A, T, and C), hemimethylated-CpG and hemimethylated-hydroxymethyl-CpG. Plays an essential role in the protection and maintenance of transcriptional and developmental programs together with QSER1 to inhibit the binding of DNMT3A/3B and therefore de novo methylation.

Target Involvement

A chromosomal aberration involving TET1 may be a cause of acute leukemias (PubMed:12646957). Translocation t(10;11)(q22;q23) with KMT2A/MLL1. This is a rare chromosomal translocation 5' KMT2A/MLL1-TET1 3' (PubMed:12124344, PubMed:12646957).

Target Subcellular Location

Nucleus. Chromosome.

Target Protein Families

TET family

Target 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. Up-regulated in glioblastoma cells (at protein level).

Target Synonyms

bA119F7.1; CXXC 6; CXXC finger 6; CXXC type zinc finger protein 6; CXXC zinc finger 6; CXXC-type zinc finger protein 6; CXXC6; KIAA1676; LCX; Leukemia associated protein with a CXXC domain; Leukemia-associated protein with a CXXC domain; Methylcytosine dioxygenase TET1; Ten eleven translocation 1; Ten eleven translocation 1 gene protein; Ten eleven translocation 1 gene protein homolog; Ten-eleven translocation 1 gene protein; Tet 1; Tet methylcytosine dioxygenase 1; Tet oncogene 1; TET1; TET1_HUMAN

Target Background

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.