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FLASH GENE
Symbol TET1 contributors: mct/ - updated : 02-07-2016
HGNC name tet oncogene 1
HGNC id 29484
Location 10q21.3      Physical location : 70.320.116 - 70.454.238
Synonym name
  • leukemia-associated protein with a CXXC domain
  • CXXC finger 6
  • ten-eleven translocation-1
  • methylcytosine dioxygenase TET1
  • Synonym symbol(s) LCX, KIAA1676, bA119F7.1, CXXC6, FLJ10839, FLJ41442, FLJ10839
    EC.number 1.14.11.n2
    DNA
    TYPE functioning gene
    STRUCTURE 134.12 kb     12 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 9601 235.2 2136 - -
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Lymphoid/Immunethymus    
    Nervousbrain     Homo sapiens
    Reproductivefemale systemovary   
    Respiratoryrespiratory tractlarynx   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text embryonic stem cells, fetal lung, brain, heart, thymus, ovary
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a zinc-binding CXXC domain (which MLL also contains) within a methyltransferase domain, a domain known to bind to unmethylated CpG sites, which are present abundantly in CpG islands
  • three nuclear localizations signals
  • an alpha-helical coiled-coil region
  • HOMOLOGY
    interspecies ortholog to murine Cxxc6
    Homologene
    FAMILY
  • TET family
  • CATEGORY regulatory , DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • having zinc ion binding, DNA binding activities
  • could catalyse the conversion of 5-methylcytosine (5mC) of DNA to 5-hydroxymethylcytosine (5hmC), raising the possibility that DNA demethylation may be a TET1-mediated process
  • role for TET1 in regulating DNA methylation status
  • seems to have a role in maintaining ES cell fate, which is consistent with its role in ICM (inner cell mass) cell specification
  • potential TET1-induced oxidation-deamination mechanism for active DNA demethylation in mammals
  • critical factor to initiate an oxidation-deamination mechanism underlying active DNA demethylation in mammals
  • required for neuronal activity-induced, region-specific, active DNA demethylation and gene expression in the adult brain
  • dual biological role of TET1, one in which it removes aberrant DNA methylation and another that ensures the timely DNA methylation and silencing of target genes during differentiation
  • has a role in transcriptional repression
  • having an important function in the regulation of DNA methylation fidelity
  • is required for binding of OGT to chromatin affecting TET1 activity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • NANOG is a direct TET1 target and TET1 regulates NANOG expression by preventing the Nanog promoter from hypermethylation
  • interacts with the SIN3A complex and the extensive colocalization of TET1 and the SIN3A co-repressor complex at target genes suggests that SIN3A has an important function in TET1-mediated gene repression
  • link between TET1 and OGT activities in regulating CpG island methylation
  • PRDM14 maintains pluripotency of embryonic stem cells through TET1, TET2-mediated active DNA demethylation
  • ZFP281 interacts with TET1, but not TET2
  • GADD45A binds directly to R-loops and mediates local DNA demethylation by recruiting TET1
  • GADD45A binding to R-loops promotes TET1 recruitment and DNA demethylation at CpG island promoters
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    to MLL in acute myeloid leukemia with trilineage dysplasia in t(10;11)(q22;q23)
    constitutional       loss of function
    would promote the stochastic hypermethylation of promoters leading to deregulation of transcription and differentiation
    Susceptibility to late-onset Alzheimer's disease
    Variant & Polymorphism SNP increasing the risk of late-onset Alzheimer's disease
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS