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    TET1 tet methylcytosine dioxygenase 1 [ Homo sapiens (human) ]

    Gene ID: 80312, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TET1provided by HGNC
    Official Full Name
    tet methylcytosine dioxygenase 1provided by HGNC
    Primary source
    HGNC:HGNC:29484
    See related
    Ensembl:ENSG00000138336 MIM:607790; AllianceGenome:HGNC:29484
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LCX; CXXC6; bA119F7.1
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See TET1 in Genome Data Viewer
    Location:
    10q21.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (68560337..68694487)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (69429559..69563685)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (70320094..70454244)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 16 Neighboring gene ribosomal protein L26 pseudogene 27 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:70285872-70286556 Neighboring gene Sharpr-MPRA regulatory region 5966 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:70287929-70288614 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:70311125-70311694 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:70319811-70320333 Neighboring gene transmembrane protein 14D, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:70327554-70328054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:70328055-70328555 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:70358633-70359198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3467 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3466 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:70368833-70369512 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:70376644-70377144 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:70377145-70377645 Neighboring gene MPRA-validated peak999 silencer Neighboring gene COX20 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3468 Neighboring gene RPS3A pseudogene 37 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16818 Neighboring gene uncharacterized LOC124902592 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16833 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2421 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16857 Neighboring gene cell division cycle and apoptosis regulator 1 Neighboring gene small nucleolar RNA, C/D box 98

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Exome sequencing identifies frequent genomic loss of TET1 in IDH-wild-type glioblastoma. Stasik S, et al. Neoplasia, 2020 Dec. PMID 33142244, Free PMC Article
    2. Measuring Cancer Hallmark Mediation of the TET1 Glioma Survival Effect with Linked Neural-Network Based Mediation Experiments. Luechtefeld T, et al. Sci Rep, 2020 Jun 1. PMID 32483272, Free PMC Article
    3. Medulloblastoma and ependymoma cells display increased levels of 5-carboxylcytosine and elevated TET1 expression. Ramsawhook A, et al. Clin Epigenetics, 2017. PMID 28228863, Free PMC Article
    4. TET1 Depletion Induces Aberrant CpG Methylation in Colorectal Cancer Cells. Kai M, et al. PLoS One, 2016. PMID 27977763, Free PMC Article
    5. Association of TET1 expression with colorectal cancer progression. Tian Y, et al. Scand J Gastroenterol, 2017 Mar. PMID 27846738

    See all (226) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TET1 inhibits liver fibrosis by blocking hepatic stellate cell activation.
      Title: TET1 inhibits liver fibrosis by blocking hepatic stellate cell activation.
    2. TET1 inhibits the migration and invasion of cervical cancer cells by regulating autophagy.
      Title: TET1 inhibits the migration and invasion of cervical cancer cells by regulating autophagy.
    3. TET1 Regulates Skeletal Stem-Cell Mediated Cartilage Regeneration.
      Title: TET1 Regulates Skeletal Stem-Cell Mediated Cartilage Regeneration.
    4. TET1 regulates stem cell properties and cell cycle of Cancer stem cells in triple-negative breast cancer via DNA demethylation.
      Title: TET1 regulates stem cell properties and cell cycle of Cancer stem cells in triple-negative breast cancer via DNA demethylation.
    5. Role of TET1-mediated epigenetic modulation in Alzheimer's disease.
      Title: Role of TET1-mediated epigenetic modulation in Alzheimer's disease.
    6. LINC00891 Attenuates the Proliferation and Metastasis of Osteosarcoma Cells via miR-27a-3p/TET1 Axis.
      Title: LINC00891 Attenuates the Proliferation and Metastasis of Osteosarcoma Cells via miR-27a-3p/TET1 Axis.
    7. Crosstalk between RNA m[6]A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells.
      Title: Crosstalk between RNA m(6)A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells.
    8. Functional polymorphisms of the TET1 gene increase the risk of neuroblastoma in Chinese children.
      Title: Functional polymorphisms of the TET1 gene increase the risk of neuroblastoma in Chinese children.
    9. MiR-183-5p promotes migration and invasion of prostate cancer by targeting TET1.
      Title: MiR-183-5p promotes migration and invasion of prostate cancer by targeting TET1.
    10. Hypoxia switches TET1 from being tumor-suppressive to oncogenic.
      Title: Hypoxia switches TET1 from being tumor-suppressive to oncogenic.
    Submit: New GeneRIF Correction See all GeneRIFs (194)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10839, FLJ41442, KIAA1676

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 5-methylcytosine dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 5-methylcytosine dioxygenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 5-methylcytosine dioxygenase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables iron ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables methyl-CpG binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to reactive oxygen species IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chromosomal 5-methylcytosine DNA demethylation pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epigenetic programing of male pronucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inner cell mass cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of cell migration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of stem cell population maintenance NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of gene expression via chromosomal CpG island demethylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of gene expression via chromosomal CpG island demethylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of stem cell population maintenance NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein O-linked glycosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of Sin3-type complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    methylcytosine dioxygenase TET1
    Names
    CXXC finger 6
    CXXC zinc finger 6
    CXXC-type zinc finger protein 6
    leukemia-associated protein with a CXXC domain
    ten-eleven translocation 1 gene protein
    ten-eleven translocation-1
    tet oncogene 1
    NP_001393294.1
    NP_001393296.1
    NP_001393297.1
    NP_001393298.1
    NP_001393299.1
    NP_001393300.1
    NP_001393301.1
    NP_001393302.1
    NP_001393303.1
    NP_001393304.1
    NP_001393305.1
    NP_085128.2
    XP_011538508.1
    XP_016872175.1
    XP_016872176.1
    XP_016872177.1
    XP_054222780.1
    XP_054222781.1
    XP_054222782.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001406365.1 → NP_001393294.1  methylcytosine dioxygenase TET1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL513534, AL713888

    2. NM_001406367.1 → NP_001393296.1  methylcytosine dioxygenase TET1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL513534, AL713888

    3. NM_001406368.1 → NP_001393297.1  methylcytosine dioxygenase TET1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL513534, AL713888

    4. NM_001406369.1 → NP_001393298.1  methylcytosine dioxygenase TET1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL513534, AL713888

    5. NM_001406370.1 → NP_001393299.1  methylcytosine dioxygenase TET1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL513534, AL713888

    6. NM_001406371.1 → NP_001393300.1  methylcytosine dioxygenase TET1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL513534, AL713888

    7. NM_001406372.1 → NP_001393301.1  methylcytosine dioxygenase TET1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL513534, AL713888

    8. NM_001406373.1 → NP_001393302.1  methylcytosine dioxygenase TET1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL513534, AL713888

    9. NM_001406374.1 → NP_001393303.1  methylcytosine dioxygenase TET1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL513534, AL713888

    10. NM_001406375.1 → NP_001393304.1  methylcytosine dioxygenase TET1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL513534, AL713888

    11. NM_001406376.1 → NP_001393305.1  methylcytosine dioxygenase TET1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL513534, AL713888

    12. NM_030625.3 → NP_085128.2  methylcytosine dioxygenase TET1 isoform 2

      See identical proteins and their annotated locations for NP_085128.2

      Status: REVIEWED

      Source sequence(s)
      AF430147, AK123436, AL513534, AL713888, AL832334
      Consensus CDS
      CCDS7281.1
      UniProtKB/Swiss-Prot
      A0A023HHK9, A0A023HHL0, Q5VUP7, Q7Z6B6, Q8NFU7, Q8TCR1, Q9C0I7
      Related
      ENSP00000362748.4, ENST00000373644.5
      Conserved Domains (3) summary
      pfam02008
      Location:585 → 624
      zf-CXXC; CXXC zinc finger domain
      pfam12851
      Location:1580 → 1707
      Tet_JBP; Oxygenase domain of the 2OGFeDO superfamily
      cl05674
      Location:1035 → 1057
      PET; PET ((Prickle Espinas Testin) domain is involved in protein-protein interactions

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      68560337..68694487
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540206.3 → XP_011538508.1  methylcytosine dioxygenase TET1 isoform X3

      Conserved Domains (2) summary
      pfam02008
      Location:585 → 624
      zf-CXXC; CXXC zinc finger domain
      cl05674
      Location:1035 → 1057
      PET; PET ((Prickle Espinas Testin) domain is involved in protein-protein interactions

    2. XM_017016688.2 → XP_016872177.1  methylcytosine dioxygenase TET1 isoform X2

    3. XM_017016687.2 → XP_016872176.1  methylcytosine dioxygenase TET1 isoform X2

    4. XM_017016686.3 → XP_016872175.1  methylcytosine dioxygenase TET1 isoform X1

    RNA

    1. XR_001747211.2 RNA Sequence

    2. XR_001747212.2 RNA Sequence

    3. XR_001747210.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      69429559..69563685
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366807.1 → XP_054222782.1  methylcytosine dioxygenase TET1 isoform X3

    2. XM_054366806.1 → XP_054222781.1  methylcytosine dioxygenase TET1 isoform X2

    3. XM_054366805.1 → XP_054222780.1  methylcytosine dioxygenase TET1 isoform X1

    RNA

    1. XR_008488269.1 RNA Sequence

    2. XR_008488270.1 RNA Sequence

    3. XR_008488268.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NFU7.2 GenPept UniProtKB/Swiss-Prot:Q8NFU7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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