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TET1 Gene

protein-coding   GIFtS: 51
GCID: GC10P070320

Tet Methylcytosine Dioxygenase 1

(Previous names: CXXC zinc finger 6, tet oncogene 1)
(Previous symbol: CXXC6)
  See TET1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tet Methylcytosine Dioxygenase 11 2     Ten-Eleven Translocation 1 Gene Protein2 3
CXXC61 2 3 5     CXXC-Type Zinc Finger Protein 62 3
Leukemia-Associated Protein With A CXXC Domain1 2 3     EC 1.14.11.n23 8
LCX2 3 5     KIAA16763 5
CXXC Zinc Finger 61 2     bA119F7.12
Tet Oncogene 11 2     CXXC Finger 62
Ten-Eleven Translocation-11 2     Methylcytosine Dioxygenase TET12

External Ids:    HGNC: 294841   Entrez Gene: 803122   Ensembl: ENSG000001383367   OMIM: 6077905   UniProtKB: Q8NFU73   

Export aliases for TET1 gene to outside databases

Previous GC identifers: GC10P069991 GC10P064321


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TET1 Gene:
TET1 (tet methylcytosine dioxygenase 1) is a protein-coding gene. Diseases associated with TET1 include leukemia. GO annotations related to this gene include methylcytosine dioxygenase activity and iron ion binding. An important paralog of this gene is TET2.

UniProtKB/Swiss-Prot: TET1_HUMAN, Q8NFU7
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the TET1 gene promoter:
         STAT1   RREB-1   Pax-6   STAT1beta   FOXO3   STAT1alpha   FOXO3b   MZF-1   FOXO3a   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTET1 promoter sequence
   Search Chromatin IP Primers for TET1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TET1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q21   Ensembl cytogenetic band:  10q21.3   HGNC cytogenetic band: 10q21

TET1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TET1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P070320:  view genomic region     (about GC identifiers)

Start:
70,320,117 bp from pter      End:
70,454,239 bp from pter
Size:
134,123 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TET1_HUMAN, Q8NFU7 (See protein sequence)
Recommended Name: Methylcytosine dioxygenase TET1  
Size: 2136 amino acids; 235309 Da
Cofactor: Binds 1 Fe(2+) ion per subunit
Cofactor: Binds 3 zinc ions per subunit. The zinc ions have a structural role (By similarity)
Subunit: Interacts with HCFC1 and OGT (By similarity). Interacts with SIN3A; recruits the transcriptional
corepressor SIN3A to gene promoters
Caution: Subsequent steps in cytosine demethylation are subject to discussion. According to a first model cytosine
demethylation occurs through deamination of 5hmC into 5-hydroxymethyluracil (5hmU) and subsequent replacement by
unmethylated cytosine by the base excision repair system (PubMed:21496894). According to another model, cytosine
demethylation is rather mediated via conversion of 5hmC into 5fC and 5caC, followed by excision by TDG and
replacement by unmethylated cytosine
Sequence caution: Sequence=CAD28467.3; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;
Secondary accessions: Q5VUP7 Q7Z6B6 Q8TCR1 Q9C0I7

Explore the universe of human proteins at neXtProt for TET1: NX_Q8NFU7

Explore proteomics data for TET1 at MOPED

Post-translational modifications: 

  • Glycosylated. Interaction with OGT leads to GlcNAcylation (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for TET1 (Q8NFU7)
     SLVFYQHK  YTHLGAGP  GCPIAKWV  EGRPFSGVT 


    See TET1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_085128.2  
    ENSEMBL proteins: 
     ENSP00000362748  
    Reactome Protein details: Q8NFU7

    TET1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TET1

     
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    TET1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    LSBio Antibodies in human, mouse, rat for TET1

    TET1 Assay Products:

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    Cloud-Clone Corp. ELISAs for TET1
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    Search eBioscience for ELISAs for TET1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR002857 Znf_CXXC
     IPR024779 2OGFeDO_nucleic_acid_mod

    Graphical View of Domain Structure for InterPro Entry Q8NFU7

    ProtoNet protein and cluster: Q8NFU7

    UniProtKB/Swiss-Prot: TET1_HUMAN, Q8NFU7
    Similarity: Belongs to the TET family
    Similarity: Contains 1 CXXC-type zinc finger


    Find genes that share domains with TET1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TET1_HUMAN, Q8NFU7
    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
    Catalytic activity: DNA 5-methylcytosine + 2-oxoglutarate + O(2) = DNA 5-hydroxymethylcytosine + succinate + CO(2)
    Catalytic activity: DNA 5-hydroxymethylcytosine + 2-oxoglutarate + O(2) = DNA 5-formylcytosine + succinate + CO(2)
    Catalytic activity: DNA 5-formylcytosine + 2-oxoglutarate + O(2) = DNA 5-carboxylcytosine + succinate + CO(2)

         Enzyme Number (IUBMB): EC 1.14.11.n21 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0005506iron ion binding IDA19372391
    GO:0008270zinc ion binding IEA--
    GO:0043566structure-specific DNA binding IDA19372391
    GO:0070579methylcytosine dioxygenase activity IMP--
         
    Find genes that share ontologies with TET1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for TET1:
     Increased S DNA content  Increased number of mitotic ce 

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Tet1):
     behavior/neurological  cellular  embryogenesis  growth/size/body  hematopoietic system 
     immune system  nervous system  reproductive system 

    Find genes that share phenotypes with TET1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for TET1: Tet1tm1.1Jae Tet1tm1.1Gxu

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TET1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TET1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TET1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TET1

    miRNA
    Products:
        
    miRTarBase miRNAs that target TET1:
    hsa-mir-29b-3p (MIRT004419), hsa-mir-21-5p (MIRT030814), hsa-mir-29a-3p (MIRT004420), hsa-mir-454-3p (MIRT039236), hsa-mir-877-5p (MIRT037234)

    Block miRNA regulation of human, mouse, rat TET1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TET1 (see all 89):
    hsa-miR-520e hsa-miR-520f hsa-miR-188-5p hsa-miR-376b hsa-miR-106a hsa-miR-200a hsa-miR-128 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidTET1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TET1
    Predesigned siRNA for gene silencing in human, mouse, rat TET1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for TET1

    Clone
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    OriGene clones in human, mouse for TET1 (see all 5)
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    GenScript: all cDNA clones in your preferred vector: TET1 (NM_030625)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TET1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TET1
    Addgene plasmids for TET1 

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    Browse ESI BIO Cell Lines and PureStem Progenitors for TET1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TET1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TET1_HUMAN, Q8NFU7: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    cytoskeleton1
    endoplasmic reticulum1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IC19372391

    Find genes that share ontologies with TET1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Find genes that share SuperPaths with TET1           About GenesLikeMe

    Pathways by sourceSee SuperPaths
    Show all pathways


    1 Reactome Pathway for TET1
        TET1,2,3 and TDG demethylate DNA


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TET1
    Interactions:

        Search GeneGlobe Interaction Network for TET1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for TET1 (ENSP000003627484) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HNRNPA1L2ENSP000003500904STRING: ENSP00000350090 STRING: ENSP00000341285
    MBD3ENSP000001568254STRING: ENSP00000156825
    YLPM1ENSP000003244634STRING: ENSP00000324463
    RBBP6ENSP000003178724STRING: ENSP00000317872
    SIN3AENSP000003536224STRING: ENSP00000353622
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001826inner cell mass cell differentiation ISS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006493protein O-linked glycosylation ISS--
    GO:0016568chromatin modification IEA--
    GO:0019827stem cell maintenance ISS--

    Find genes that share ontologies with TET1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TET1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TET1 gene: 
    NM_030625.2  

    Unigene Cluster for TET1:

    Tet methylcytosine dioxygenase 1
    Hs.567594  [show with all ESTs]
    Unigene Representative Sequence: NM_030625
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000373644(uc001jok.4 uc009xpw.1)
    miRNA
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    Block miRNA regulation of human, mouse, rat TET1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TET1 (see all 89):
    hsa-miR-520e hsa-miR-520f hsa-miR-188-5p hsa-miR-376b hsa-miR-106a hsa-miR-200a hsa-miR-128 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidTET1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: TET1 (NM_030625)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TET1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TET1
    Addgene plasmids for TET1 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for TET1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TET1
      QuantiTect SYBR Green Assays in human, mouse, rat TET1
      QuantiFast Probe-based Assays in human, mouse, rat TET1

    Additional mRNA sequence: 

    AB051463.1 AF430147.1 AK123436.1 AL832334.1 AL832337.1 BC053905.1 FM165197.1 

    4 DOTS entries:

    DT.432626  DT.101972582  DT.91951770  DT.121238941 

    Selected AceView cDNA sequences (see all 52):

    W94969 AK123436 BX955006 CA412990 NM_030625 AL713658 AB051463 AI637887 
    AF430147 AW025923 AI741535 AI652906 W93385 CD652797 BE463873 CD644390 
    BE778286 AL832337 BP871022 BF793579 BM542454 CD643453 BU517111 AI968175 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TET1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TET1 Expression
    About this image


    TET1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Liver Bud
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Liver Bud
     
     Bone (Muscoskeletal System)
             Bone Marrow
    TET1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TET1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567594

    UniProtKB/Swiss-Prot: TET1_HUMAN, Q8NFU7
    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

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    QuantiFast Probe-based Assays in human, mouse, rat TET1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TET1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TET1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tet11 , 5 tet methylcytosine dioxygenase 11, 5 70.05(n)1
    57.65(a)1
      10 (32.48 cM)5
    524631  NM_001253857.11  NP_001240786.11 
     628045775 
    chicken
    (Gallus gallus)
    Aves TET11 tet oncogene 1 58.32(n)
    46.95(a)
      423690  XM_004942011.1  XP_004942068.1 
    lizard
    (Anolis carolinensis)
    Reptilia TET16
    tet methylcytosine dioxygenase 1
    21(a)
    1 ↔ 1
    GL343215.1(1689107-1766274)
    zebrafish
    (Danio rerio)
    Actinopterygii tet16
    tet methylcytosine dioxygenase 1
    25(a)
    1 ↔ 1
    13(18251676-18344901) ENSDARG00000075230
    fruit fly
    (Drosophila melanogaster)
    Insecta CG434446
    --
    14(a)
    1 → many
    3L(2786206-2879158)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TET1 gene
    TET22  TET32  
    1 SIMAP similar gene for TET1 using alignment to 1 protein entry:     TET1_HUMAN:
    CXXC4

    Find genes that share paralogs with TET1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for TET1
    PGOHUM00000248454


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TET1 (see all 3132)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs561490361,2
    C--64450292(+) TTTTT-/T/T   
       TTTTT
    GAGAC
    1 -- int11NA 2
    rs1411487931,2
    --70318122(+) TTACCA/GTGGAC 1 -- us2k10--------
    rs1469188371,2
    --70318189(+) GTTAAG/TTGACA 1 -- us2k10--------
    rs1149333741,2
    C,F--70318388(+) TGGTGC/TGCACT 1 -- us2k11Minor allele frequency- T:0.04WA 118
    rs118129871,2
    C,F,H--70318408(+) ACCTGA/CAAGTC 1 -- us2k16Minor allele frequency- C:0.01NS EA NA 400
    rs1814017931,2
    --70318436(+) AGTATC/GTTGCC 1 -- us2k10--------
    rs118167871,2
    H--70318452(+) actcaA/Ggctgg 1 -- us2k10--------
    rs1857626001,2
    --70318536(+) TCAAAA/GTGTTA 1 -- us2k10--------
    rs27959111,2
    C,F,H--70318669(-) CTGAGT/CCAATG 1 -- us2k116Minor allele frequency- C:0.01NS EA NA WA CSA 1358
    rs1173105381,2
    F--70318743(+) TCAACG/AGGTCA 1 -- us2k11Minor allele frequency- A:0.02NA 120

    HapMap Linkage Disequilibrium report for TET1 (70320117 - 70454239 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for TET1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661103CNV Deletion23128226
    esv274213CNV Insertion20981092
    nsv895693CNV Loss21882294
    nsv524412CNV Loss19592680
    nsv510227CNV Loss20534489

    Human Gene Mutation Database (HGMD): TET1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TET1
    DNA2.0 Custom Variant and Variant Library Synthesis for TET1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607790    OMIM disorders: --

    UniProtKB/Swiss-Prot: TET1_HUMAN, Q8NFU7
  • 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'

  • 1 disease for TET1:    
    About MalaCards
    leukemia


    Find genes that share disorders with TET1           About GenesLikeMe

    Genetic Association Database (GAD): TET1
    Human Genome Epidemiology (HuGE) Navigator: TET1 (3 documents)

    Export disorders for TET1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TET1 gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with TET1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TET1, a member of a novel protein family, is fused to MLL in acute myeloid leukemia containing the t(10;11)(q22;q23). (PubMed id 12646957)1, 2, 3 Lorsbach R.B....Downing J.R. (Leukemia 2003)
    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). (PubMed id 12124344)1, 2, 3 Ono R.... Hayashi Y. (Cancer Res. 2002)
    3. Hydroxylation of 5-methylcytosine by TET1 promotes active DNA demethylation in the adult brain. (PubMed id 21496894)1, 2 Guo J.U.... Song H. (Cell 2011)
    4. Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by the MLL fusion partner TET1. (PubMed id 19372391)1, 2 Tahiliani M.... Rao A. (Science 2009)
    5. Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies. (PubMed id 19420352)1, 4 Abdel-Wahab O.... Levine R.L. (Blood 2009)
    6. Association analysis of 528 intra-genic SNPs in a region of chromosome 10 linked to late onset Alzheimer's disease. (PubMed id 18163421)1, 4 Morgan A.R....Owen M.J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
    7. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    10. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 80312 HGNC: 29484 AceView: CXXC6 Ensembl:ENSG00000138336 euGenes: HUgn80312
    ECgene: TET1 H-InvDB: TET1

    (According to HUGE)
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    HUGE: KIAA1676

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TET1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for TET1 gene:
    Search GeneIP for patents involving TET1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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