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

    Gene ID: 80312, updated on 25-May-2017
    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; Vega:OTTHUMG00000018359
    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]
    Orthologs
    Location:
    10q21.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (68560360..68700794)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (70320117..70454239)

    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 transmembrane protein 14D, pseudogene Neighboring gene COX20, cytochrome c oxidase assembly factor pseudogene 1 Neighboring gene ribosomal protein S3a pseudogene 37 Neighboring gene cell division cycle and apoptosis regulator 1 Neighboring gene microRNA 1254-1 Neighboring gene small nucleolar RNA, C/D box 98

    • Project title: 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Cytosine methylation, organism-specific biosystem (from WikiPathways)
      Cytosine methylation, organism-specific biosystemDNA, namely cytosine, methylation is the key event in epigentics. The degree of methylation influences gene expression and methylation disorders are known to be major causes of some diseases like Ret...
    • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Epigenetic regulation of gene expression, organism-specific biosystem (from REACTOME)
      Epigenetic regulation of gene expression, organism-specific biosystemEpigenetic processes regulate gene expression by modulating the frequency, rate, or extent of gene expression in a mitotically or meiotically heritable way that does not entail a change in the DNA se...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • MECP2 and Associated Rett Syndrome, organism-specific biosystem (from WikiPathways)
      MECP2 and Associated Rett Syndrome, organism-specific biosystemMecp2 is in many mammals an important regulator of neuronal function and development. It affects all cell types, especially neurons but also astrocytes, oligodendrocytes, and glial cells. Mecp2 plays...
    • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
      Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
    • TET1,2,3 and TDG demethylate DNA, organism-specific biosystem (from REACTOME)
      TET1,2,3 and TDG demethylate DNA, organism-specific biosystemAbout 2-6% of all cytosine residues and 70-80% of cytosine residues in CG dinucleotides in mammalian cells are methylated at the 5 position of the pyrimidine ring. The cytosine residues are methylate...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ10839, FLJ41442, KIAA1676

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    iron ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    methylcytosine dioxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    methylcytosine dioxygenase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    DNA demethylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    covalent chromatin modification IEA
    Inferred from Electronic Annotation
    more info
     
    inner cell mass cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of methylation-dependent chromatin silencing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of histone methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein O-linked glycosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IC
    Inferred by Curator
    more info
    PubMed 
    Preferred Names
    methylcytosine dioxygenase TET1
    Names
    CXXC finger 6
    CXXC zinc finger 6
    CXXC-type zinc finger protein 6
    TET1 splice variant VP_DE4
    TET1 splice variant VP_DE456
    leukemia-associated protein with a CXXC domain
    ten-eleven translocation 1 gene protein
    ten-eleven translocation-1
    tet oncogene 1
    NP_085128.2
    XP_011538506.1
    XP_011538507.1
    XP_011538508.1
    XP_011538509.1
    XP_016872175.1
    XP_016872176.1
    XP_016872177.1
    XP_016872178.1

    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_030625.2NP_085128.2  methylcytosine dioxygenase TET1

      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
      Q8NFU7
      Related
      ENSP00000362748.4, OTTHUMP00000019708, ENST00000373644.4, OTTHUMT00000048354
      Conserved Domains (3) summary
      pfam02008
      Location:585624
      zf-CXXC; CXXC zinc finger domain
      pfam12851
      Location:15801707
      Tet_JBP; Oxygenase domain of the 2OGFeDO superfamily
      cl05674
      Location:10351057
      PET; PET ((Prickle Espinas Testin) domain is involved in protein-protein interactions

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      68560360..68700794
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540204.2XP_011538506.1  methylcytosine dioxygenase TET1 isoform X1

      Conserved Domains (3) summary
      pfam02008
      Location:585624
      zf-CXXC; CXXC zinc finger domain
      pfam12851
      Location:15801736
      Tet_JBP; Oxygenase domain of the 2OGFeDO superfamily
      cl05674
      Location:10351057
      PET; PET ((Prickle Espinas Testin) domain is involved in protein-protein interactions
    2. XM_011540206.2XP_011538508.1  methylcytosine dioxygenase TET1 isoform X5

      Conserved Domains (2) summary
      pfam02008
      Location:585624
      zf-CXXC; CXXC zinc finger domain
      cl05674
      Location:10351057
      PET; PET ((Prickle Espinas Testin) domain is involved in protein-protein interactions
    3. XM_017016688.1XP_016872177.1  methylcytosine dioxygenase TET1 isoform X4

    4. XM_017016689.1XP_016872178.1  methylcytosine dioxygenase TET1 isoform X6

      Conserved Domains (2) summary
      pfam12851
      Location:9091065
      Tet_JBP; Oxygenase domain of the 2OGFeDO superfamily
      cl05674
      Location:364386
      PET; PET ((Prickle Espinas Testin) domain is involved in protein-protein interactions
    5. XM_017016687.1XP_016872176.1  methylcytosine dioxygenase TET1 isoform X4

    6. XM_011540207.2XP_011538509.1  methylcytosine dioxygenase TET1 isoform X6

      Conserved Domains (2) summary
      pfam12851
      Location:9091065
      Tet_JBP; Oxygenase domain of the 2OGFeDO superfamily
      cl05674
      Location:364386
      PET; PET ((Prickle Espinas Testin) domain is involved in protein-protein interactions
    7. XM_011540205.2XP_011538507.1  methylcytosine dioxygenase TET1 isoform X2

      Conserved Domains (2) summary
      pfam12851
      Location:9431099
      Tet_JBP; Oxygenase domain of the 2OGFeDO superfamily
      cl05674
      Location:398420
      PET; PET ((Prickle Espinas Testin) domain is involved in protein-protein interactions
    8. XM_017016686.1XP_016872175.1  methylcytosine dioxygenase TET1 isoform X3

    RNA

    1. XR_001747211.1 RNA Sequence

    2. XR_001747212.1 RNA Sequence

    3. XR_001747210.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      70602173..70737025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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