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Aliases for TET1 Gene

Aliases for TET1 Gene

  • Tet Methylcytosine Dioxygenase 1 2 3 5
  • Leukemia-Associated Protein With A CXXC Domain 2 3 4
  • Ten-Eleven Translocation 1 Gene Protein 3 4
  • CXXC-Type Zinc Finger Protein 6 3 4
  • Ten-Eleven Translocation-1 2 3
  • CXXC Zinc Finger 6 2 3
  • Tet Oncogene 1 2 3
  • EC 1.14.11.n2 4 63
  • CXXC6 3 4
  • LCX 3 4
  • TET1 Splice Variant VP_DE456 3
  • TET1 Splice Variant VP_DE4 3
  • CXXC Finger 6 3
  • BA119F7.1 3
  • TET1-MLL 3
  • MLL-TET1 3
  • KIAA1676 4

External Ids for TET1 Gene

Previous HGNC Symbols for TET1 Gene

  • CXXC6

Previous GeneCards Identifiers for TET1 Gene

  • GC10P069991
  • GC10P070320
  • GC10P064321

Summaries for TET1 Gene

Entrez Gene Summary for TET1 Gene

  • 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]

GeneCards Summary for TET1 Gene

TET1 (Tet Methylcytosine Dioxygenase 1) is a Protein Coding gene. Diseases associated with TET1 include lateral myocardial infarction and coronary aneurysm. Among its related pathways are Gene Expression and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include iron ion binding and methylcytosine dioxygenase activity. An important paralog of this gene is TET2.

UniProtKB/Swiss-Prot for TET1 Gene

  • 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. 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 (PubMed:25284789).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TET1 Gene

Genomics for TET1 Gene

Regulatory Elements for TET1 Gene

Promoters for TET1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TET1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TET1 Gene

Chromosome:
10
Start:
68,560,360 bp from pter
End:
68,694,487 bp from pter
Size:
134,128 bases
Orientation:
Plus strand

Genomic View for TET1 Gene

Genes around TET1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TET1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TET1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TET1 Gene

Proteins for TET1 Gene

  • Protein details for TET1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFU7-TET1_HUMAN
    Recommended name:
    Methylcytosine dioxygenase TET1
    Protein Accession:
    Q8NFU7
    Secondary Accessions:
    • Q5VUP7
    • Q7Z6B6
    • Q8TCR1
    • Q9C0I7

    Protein attributes for TET1 Gene

    Size:
    2136 amino acids
    Molecular mass:
    235309 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with HCFC1 and OGT (By similarity). Interacts with SIN3A; recruits the transcriptional corepressor SIN3A to gene promoters.
    SequenceCaution:
    • Sequence=CAD28467.3; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

neXtProt entry for TET1 Gene

Proteomics data for TET1 Gene at MOPED

Selected DME Specific Peptides for TET1 Gene

Post-translational modifications for TET1 Gene

  • Glycosylated. Interaction with OGT leads to GlcNAcylation (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TET1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TET1 Gene

Gene Families for TET1 Gene

Protein Domains for TET1 Gene

Suggested Antigen Peptide Sequences for TET1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NFU7

UniProtKB/Swiss-Prot:

TET1_HUMAN :
  • Belongs to the TET family.
  • Contains 1 CXXC-type zinc finger.
Family:
  • Belongs to the TET family.
Similarity:
  • Contains 1 CXXC-type zinc finger.
genes like me logo Genes that share domains with TET1: view

Function for TET1 Gene

Molecular function for TET1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
DNA 5-methylcytosine + 2-oxoglutarate + O(2) = DNA 5-hydroxymethylcytosine + succinate + CO(2).
UniProtKB/Swiss-Prot CatalyticActivity:
DNA 5-hydroxymethylcytosine + 2-oxoglutarate + O(2) = DNA 5-formylcytosine + succinate + CO(2).
UniProtKB/Swiss-Prot CatalyticActivity:
DNA 5-formylcytosine + 2-oxoglutarate + O(2) = DNA 5-carboxylcytosine + succinate + CO(2).
UniProtKB/Swiss-Prot 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. 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 (PubMed:25284789).

Enzyme Numbers (IUBMB) for TET1 Gene

Gene Ontology (GO) - Molecular Function for TET1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0043566 structure-specific DNA binding IDA 19372391
genes like me logo Genes that share ontologies with TET1: view
genes like me logo Genes that share phenotypes with TET1: view

Animal Models for TET1 Gene

MGI Knock Outs for TET1:

Animal Model Products

CRISPR Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TET1 Gene

Localization for TET1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TET1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TET1 Gene COMPARTMENTS Subcellular localization image for TET1 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 2
endoplasmic reticulum 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for TET1 Gene

Pathways & Interactions for TET1 Gene

genes like me logo Genes that share pathways with TET1: view

Pathways by source for TET1 Gene

Interacting Proteins for TET1 Gene

Gene Ontology (GO) - Biological Process for TET1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006493 protein O-linked glycosylation ISS --
GO:0008284 positive regulation of cell proliferation IMP 25284789
GO:0016568 chromatin modification IEA --
GO:0019827 stem cell population maintenance ISS --
genes like me logo Genes that share ontologies with TET1: view

No data available for SIGNOR curated interactions for TET1 Gene

Drugs & Compounds for TET1 Gene

(1) Drugs for TET1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Succinic acid Approved Nutra Full agonist, Agonist 0

(2) Additional Compounds for TET1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
328-50-7
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
genes like me logo Genes that share compounds with TET1: view

Transcripts for TET1 Gene

Unigene Clusters for TET1 Gene

Tet methylcytosine dioxygenase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TET1 Gene

No ASD Table

Relevant External Links for TET1 Gene

GeneLoc Exon Structure for
TET1
ECgene alternative splicing isoforms for
TET1

Expression for TET1 Gene

mRNA expression in normal human tissues for TET1 Gene

Protein differential expression in normal tissues from HIPED for TET1 Gene

This gene is overexpressed in Breast (24.3), Prostate (20.0), Testis (8.8), and Plasma (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TET1 Gene



SOURCE GeneReport for Unigene cluster for TET1 Gene Hs.567594

mRNA Expression by UniProt/SwissProt for TET1 Gene

Q8NFU7-TET1_HUMAN
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) (PubMed:25284789).
genes like me logo Genes that share expression patterns with TET1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for TET1 Gene

Orthologs for TET1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TET1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TET1 35
  • 83.54 (n)
  • 77.01 (a)
TET1 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TET1 35
  • 85.95 (n)
  • 80.61 (a)
TET1 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tet1 35
  • 70.05 (n)
  • 57.65 (a)
Tet1 16
Tet1 36
  • 52 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TET1 35
  • 99.59 (n)
  • 99.49 (a)
TET1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tet1 35
  • 70.94 (n)
  • 58.79 (a)
oppossum
(Monodelphis domestica)
Mammalia TET1 36
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TET1 36
  • 26 (a)
OneToOne
chicken
(Gallus gallus)
Aves TET1 35
  • 58.32 (n)
  • 46.95 (a)
TET1 36
  • 34 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TET1 36
  • 21 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tet1 36
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG43444 36
  • 14 (a)
OneToMany
Species with no ortholog for TET1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TET1 Gene

ENSEMBL:
Gene Tree for TET1 (if available)
TreeFam:
Gene Tree for TET1 (if available)

Paralogs for TET1 Gene

Paralogs for TET1 Gene

(1) SIMAP similar genes for TET1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for TET1 Gene

genes like me logo Genes that share paralogs with TET1: view

Variants for TET1 Gene

Sequence variations from dbSNP and Humsavar for TET1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs10823229 - 68,572,823(+) GCAAG(A/G)CACCC reference, missense
rs12773594 - 68,572,915(+) TTTGG(A/T)CCCAA reference, missense
rs12221107 - 68,573,105(+) AAGAG(A/C/T)AACCC reference, missense
rs16925541 - 68,645,782(+) CACCA(A/G)TAAAA reference, missense
rs3998860 - 68,646,098(-) TGTTG(A/C/T)ATTGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TET1 Gene

Variant ID Type Subtype PubMed ID
esv2661103 CNV Deletion 23128226
nsv895693 CNV Loss 21882294
esv274213 CNV Insertion 20981092
nsv524412 CNV Loss 19592680
nsv510227 CNV Loss 20534489

Variation tolerance for TET1 Gene

Residual Variation Intolerance Score: 13.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.43; 96.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TET1 Gene

HapMap Linkage Disequilibrium report
TET1
Human Gene Mutation Database (HGMD)
TET1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TET1 Gene

Disorders for TET1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TET1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
lateral myocardial infarction
  • lateral myocardial infarction nos
coronary aneurysm
  • aneurysm of coronary vessels
heart aneurysm
  • cardiac aneurysm
inferior myocardial infarction
  • inferior myocardial infarction nos
- elite association - COSMIC cancer census association via MalaCards
Search TET1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TET1_HUMAN
  • Note=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). {ECO:0000269 PubMed:12124344, ECO:0000269 PubMed:12646957}.

Relevant External Links for TET1

Genetic Association Database (GAD)
TET1
Human Genome Epidemiology (HuGE) Navigator
TET1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TET1
genes like me logo Genes that share disorders with TET1: view

No data available for Genatlas for TET1 Gene

Publications for TET1 Gene

  1. TET1, a member of a novel protein family, is fused to MLL in acute myeloid leukemia containing the t(10;11)(q22;q23). (PMID: 12646957) Lorsbach R.B. … Downing J.R. (Leukemia 2003) 2 3 4 67
  2. LCX, leukemia-associated protein with a CXXC domain, is fused to MLL in acute myeloid leukemia with trilineage dysplasia having t(10;11)(q22;q23). (PMID: 12124344) Ono R. … Hayashi Y. (Cancer Res. 2002) 2 3
  3. CRL4(VprBP) E3 ligase promotes monoubiquitylation and chromatin binding of TET dioxygenases. (PMID: 25557551) Nakagawa T. … Xiong Y. (Mol. Cell 2015) 3
  4. Phosphorylation of TET proteins is regulated via O-GlcNAcylation by the O-linked N-acetylglucosamine transferase (OGT). (PMID: 25568311) Bauer C. … Leonhardt H. (J. Biol. Chem. 2015) 3
  5. MiR-520b suppresses proliferation of hepatoma cells through targeting ten-eleven translocation 1 (TET1) mRNA. (PMID: 25824049) Zhang W. … Zhang X. (Biochem. Biophys. Res. Commun. 2015) 3

Products for TET1 Gene

Sources for TET1 Gene

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