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] See more...

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
  • Methylcytosine Dioxygenase TET1 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 52
  • 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
  • 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 Miles-Carpenter Syndrome and Alzheimer Disease 5. Among its related pathways are Gene Expression and Mesodermal Commitment Pathway. Gene Ontology (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 Summary 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). Binds preferentially to DNA containing cytidine-phosphate-guanosine (CpG) dinucleotides over CpH (H=A, T, and C), hemimethylated-CpG and hemimethylated-hydroxymethyl-CpG (PubMed:29276034).

Additional gene information for TET1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TET1 Gene

Genomics for TET1 Gene

GeneHancer (GH) Regulatory Elements for TET1 Gene

Promoters and enhancers for TET1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J068559 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.5 1514 4.3 EP300 HNRNPK ZNF217 ZSCAN5C NRF1 USF1 POLR2G SP1 NCOR1 BCLAF1 TET1 CCAR1 DNA2 DDX50 HERC4 HNRNPH3 SIRT1 ATOH7 piR-50443-044
GH10J068327 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -227.9 -227872 9.5 RXRA HNRNPK ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 MYC TCF12 HNRNPH3 PBLD DNA2 SIRT1 DDX50 CCAR1 HERC4 TET1 RPS3AP38
GH10J067883 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11 -675.0 -674974 3.7 RXRA FOXK2 HNRNPK ZBTB40 EP300 SIN3A NRF1 MYC USF1 POLR2G SIRT1 TET1 RPS3AP38 HERC4 MYPN RF00017-679
GH10J068526 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10.8 -33.1 -33070 2.9 RXRA FOXK2 ZBTB40 EP300 ZSCAN5C SIN3A TCF12 NRF1 POLR2G USF1 SLC25A16 lnc-DNA2-1 piR-40154-022 lnc-TET1-5 piR-52261-036 DNA2 HNRNPH3 SUPV3L1 TET1 LINC02640
GH10J068405 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.6 -153.7 -153737 3.6 HNRNPK EP300 CTCF POLR2G GTF2E2 PHF8 ZFX ZIC2 REST POLR2A RUFY2 HNRNPH3 DNA2 DDX50 TET1 SIRT1 piR-32214-063
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TET1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TET1

Top Transcription factor binding sites by QIAGEN in the TET1 gene promoter:
  • ATF6
  • FOXO3
  • FOXO3a
  • FOXO3b
  • MZF-1
  • Pax-6
  • RREB-1
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for TET1 Gene

Genomic Locations for TET1 Gene
chr10:68,560,337-68,694,487
(GRCh38/hg38)
Size:
134,151 bases
Orientation:
Plus strand
chr10:70,320,117-70,454,239
(GRCh37/hg19)
Size:
134,123 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 (PubMed:21490601). Found in a complex composed of at least SINHCAF, SIN3A, HDAC1, SAP30, RBBP4, OGT and TET1 (By similarity).
    SequenceCaution:
    • Sequence=CAD28467.3; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TET1 Gene

neXtProt entry for TET1 Gene

Selected DME Specific Peptides for TET1 Gene

Q8NFU7:
  • SLVFYQHK
  • GCPIAKWV
  • YTHLGAGP
  • EGRPFSGVT

Post-translational modifications for TET1 Gene

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

Domains & Families for TET1 Gene

Gene Families for TET1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TET1 Gene

Suggested Antigen Peptide Sequences for TET1 Gene

GenScript: Design optimal peptide antigens:
  • Ten-eleven translocation 1 gene protein (TET1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NFU7

UniProtKB/Swiss-Prot:

TET1_HUMAN :
  • The CXXC zinc finger mediates binding to CpG-DNA.
  • Belongs to the TET family.
Domain:
  • The CXXC zinc finger mediates binding to CpG-DNA.
Family:
  • Belongs to the TET family.
genes like me logo Genes that share domains with TET1: view

Function for TET1 Gene

Molecular function for TET1 Gene

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). Binds preferentially to DNA containing cytidine-phosphate-guanosine (CpG) dinucleotides over CpH (H=A, T, and C), hemimethylated-CpG and hemimethylated-hydroxymethyl-CpG (PubMed:29276034).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + a 5-methyl-2'-deoxycytidine in DNA + O2 = a 5-hydroxymethyl-2'-deoxycytidine in DNA + CO2 + succinate; Xref=Rhea:RHEA:52636, Rhea:RHEA-COMP:11370, Rhea:RHEA-COMP:13315, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:85454, ChEBI:CHEBI:136731; EC=1.14.11.n2; Evidence={ECO:0000269 PubMed:19372391, ECO:0000269 PubMed:21496894};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + a 5-hydroxymethyl-2'-deoxycytidine in DNA + O2 = a 5-formyl-2'-deoxycytidine in DNA + CO2 + H2O + succinate; Xref=Rhea:RHEA:53828, Rhea:RHEA-COMP:13315, Rhea:RHEA-COMP:13656, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:136731, ChEBI:CHEBI:137731; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + a 5-formyl-2'-deoxycytidine in DNA + O2 = a 5-carboxyl-2'-deoxycytidine in DNA + CO2 + H(+) + succinate; Xref=Rhea:RHEA:53832, Rhea:RHEA-COMP:13656, Rhea:RHEA-COMP:13657, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:137731, ChEBI:CHEBI:137732; Evidence=. ;.

Enzyme Numbers (IUBMB) for TET1 Gene

Phenotypes From GWAS Catalog for TET1 Gene

Gene Ontology (GO) - Molecular Function for TET1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 19372391
GO:0005506 iron ion binding IDA,IBA 19372391
GO:0008270 zinc ion binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
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:
  • Tet1 Tet1<tm1.1Gxu>
  • Tet1 Tet1<tm1.1Jae>

Clone Products

  • Addgene plasmids for TET1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TET1 gene
Compartment Confidence
nucleus 5
mitochondrion 3
plasma membrane 2
extracellular 2
cytoskeleton 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TET1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IC,IBA 19372391
genes like me logo Genes that share ontologies with TET1: view

Pathways & Interactions for TET1 Gene

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

SIGNOR curated interactions for TET1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for TET1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001826 inner cell mass cell differentiation ISS --
GO:0006211 5-methylcytosine catabolic process IBA 21873635
GO:0006325 chromatin organization IEA --
GO:0006493 protein O-linked glycosylation ISS --
GO:0008284 positive regulation of cell proliferation IMP 25284789
genes like me logo Genes that share ontologies with TET1: view

Drugs & Compounds for TET1 Gene

(3) Drugs for TET1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Succinic acid Approved Nutra Full agonist, Agonist 0
Oxogluric acid Experimental, Investigational Nutra 0
genes like me logo Genes that share compounds with TET1: view

Transcripts for TET1 Gene

mRNA/cDNA for TET1 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for TET1

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

No ASD Table

Relevant External Links for TET1 Gene

GeneLoc Exon Structure for
TET1

Expression for TET1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for TET1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TET1

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).

Evidence on tissue expression from TISSUES for TET1 Gene

  • Nervous system(4.5)
  • Heart(2.8)
  • Muscle(2.6)
genes like me logo Genes that share expression patterns with TET1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia TET1 31 30
  • 99.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TET1 31 30
  • 85.95 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TET1 31 30
  • 83.54 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tet1 30
  • 70.94 (n)
mouse
(Mus musculus)
Mammalia Tet1 17 31 30
  • 70.05 (n)
oppossum
(Monodelphis domestica)
Mammalia TET1 31
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TET1 31
  • 26 (a)
OneToOne
chicken
(Gallus gallus)
Aves TET1 31 30
  • 58.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TET1 31
  • 21 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tet1 31
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG43444 31
  • 14 (a)
OneToMany
Species where no ortholog for TET1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TET1: view image

Paralogs for TET1 Gene

Paralogs for TET1 Gene

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

  • TET1_HUMAN

Pseudogenes.org Pseudogenes for TET1 Gene

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

Variants for TET1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TET1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
717158 Benign: not provided 68,686,681(+) G/A MISSENSE_VARIANT
721836 Benign: not provided 68,572,834(+) C/T MISSENSE_VARIANT
760981 Benign: not provided 68,572,854(+) A/C SYNONYMOUS_VARIANT
760982 Benign: not provided 68,645,135(+) C/T SYNONYMOUS_VARIANT
768369 Benign: not provided 68,691,790(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TET1 Gene

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

Variant ID Type Subtype PubMed ID
dgv919n100 CNV gain 25217958
esv2661103 CNV deletion 23128226
esv3309941 CNV mobile element insertion 20981092
esv3377762 CNV insertion 20981092
esv3393652 CNV insertion 20981092
esv3546461 CNV deletion 23714750
esv3623723 CNV loss 21293372
esv3623725 CNV loss 21293372
nsv1037679 CNV gain 25217958
nsv1044477 CNV gain 25217958
nsv1047983 CNV gain 25217958
nsv1049633 CNV gain 25217958
nsv1052569 CNV gain 25217958
nsv477911 CNV novel sequence insertion 20440878
nsv510227 OTHER sequence alteration 20534489
nsv524412 CNV loss 19592680
nsv551435 CNV loss 21841781
nsv948048 CNV duplication 23825009
nsv948049 CNV duplication 23825009

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)

Additional Variant Information for TET1 Gene

Human Gene Mutation Database (HGMD)
TET1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TET1

SNP Genotyping and Copy Number Assay Products

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

Disorders for TET1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TET1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
miles-carpenter syndrome
  • miles-carpenter x-linked mental retardation syndrome
alzheimer disease 5
  • ad5
rett syndrome
  • rtt
hypoascorbemia
  • scurvy
immunodeficiency-centromeric instability-facial anomalies syndrome
  • immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16
- 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}.

Additional Disease Information for TET1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 RB … Downing JR (Leukemia 2003) 2 3 4 54
  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 research 2002) 2 3 4 54
  3. 5-Hydroxymethylcytosine plays a critical role in glioblastomagenesis by recruiting the CHTOP-methylosome complex. (PMID: 25284789) Takai H … Akiyama T (Cell reports 2014) 3 4 54
  4. Hydroxylation of 5-methylcytosine by TET1 promotes active DNA demethylation in the adult brain. (PMID: 21496894) Guo JU … Song H (Cell 2011) 3 4 54
  5. Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1. (PMID: 19372391) Tahiliani M … Rao A (Science (New York, N.Y.) 2009) 3 4 54

Products for TET1 Gene

Sources for TET1 Gene