InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TET1

Summary

InnateDB Protein

IDBP-76145.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TET1

Protein Name

tet methylcytosine dioxygenase 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000362748

InnateDB Gene

IDBG-76143 (TET1)

Protein Structure

UniProt Annotation

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). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation. Methylation at the C5 position of cytosine bases is an epigenetic modification of the mammalian genome which plays an important role in transcriptional regulation. In addition to its role in DNA demethylation, plays a more general role in chromatin regulation. Preferentially binds to CpG-rich sequences at promoters of both transcriptionally active and Polycomb-repressed genes. Involved in the recruitment of the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT. Also involved in transcription repression 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. {ECO:0000269PubMed:12124344, ECO:0000269PubMed:19372391, ECO:0000269PubMed:19372393, ECO:0000269PubMed:21496894, ECO:0000269PubMed:21778364}.

Subcellular Localization

Nucleus {ECO:0000305}.

Disease Associations

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

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. {ECO:0000269PubMed:12124344, ECO:0000269PubMed:12646957}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0005506	iron ion binding
GO:0008270	zinc ion binding
GO:0043566	structure-specific DNA binding
GO:0070579	methylcytosine dioxygenase activity

Biological Process

GO:0001826	inner cell mass cell differentiation
GO:0006351	transcription, DNA-templated
GO:0006493	protein O-linked glycosylation
GO:0016568	chromatin modification
GO:0019827	stem cell maintenance
GO:0044030	regulation of DNA 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