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FLASH GENE
Symbol CXXC1 contributors: mct - updated : 13-04-2018
HGNC name CXXC finger 1 (PHD domain)
HGNC id 24343
Location 18q21.1      Physical location : 47.808.714 - 47.814.692
Synonym name
  • DNA-binding protein with PHD finger and CXXC domain
  • CpG binding protein
  • PHD finger and CXXC domain-containing protein 1
  • zinc finger, CpG binding-type containing 1
  • Synonym symbol(s) HsT2645, PCCX1, PHF18, CGBP, SPP1, CFP1, ZCGPC1, 2410002I16Rik, 5830420C16Rik
    DNA
    TYPE functioning gene
    STRUCTURE 5.98 kb     15 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2976 - 660 - Tate (2009)
    15 - 2964 - 656 - Tate (2009)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
    Lymphoid/Immunelymph node    
     spleen    
     thymus    
    Nervousbrain    
    Reproductivefemale systemuterus   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • cysteine rich with two PHD (C4-H-C3) zinc finger domains
  • a third cysteine rich CXXC
  • DNA binding domain and an acidic region
  • two nuclear localization signals that are insufficient to direct punctate subnuclear distribution
  • HOMOLOGY
    interspecies ortholog to murine Cxxc1
    Homologene
    FAMILY
    CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    intracellular,nucleus,chromatin/chromosome,euchromosome
    basic FUNCTION
  • having zinc ion binding, unmethylated CpG binding activities
  • involved in regulation of transcription, DNA-dependent
  • modulating the expression of genes located within CpG islands
  • playing a role in mammalian hematopoietic development (Young 2007)
  • intersects the cytosine methylation machinery independently of its association with the SETD1 complexes (Butler 2008)
  • contains redundant functional domains that support embryonic stem cell cytosine methylation, histone methylation, and differentiation (Tate 2009)
  • regulator of both cytosine methylation and histone methylation (Tate 2009)
  • enriched within the CGI fraction of the genome (Thomson 2010)
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • components of a multimeric complex analogous to the histone-methylating Set1 complex of Saccharomyces cerevisiae that contains CGBP and trithorax homologues
  • component of the SETD1A and SETD1B methyltransferase complexes, localizingc to euchromatic regions of the genome, and specifically binding unmethylated CpG dinucleotides in DNA (Butler 2008)
  • INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • interacts with MLL1, MLL2 as well as SETD1A and plays critical roles in regulations of MLL target genes (Ansari 2008)
  • interacts with DNMT1 independently of association with the Setd1 Histone H3K4 methyltransferase complexes (Butler 2008)
  • YWHAG induction in Class switch DNA recombination (CSR) is enabled by the CXXC1-mediated H3K4me3 enrichment in the promoter, dependent on NFKB1 and sustained by TCF3
  • CXXC1 interacts with CCDC36, an essential component of the meiotic double-strand break (DSB) machinery
  • CXXC1 interact with the KRAB domain of PRDM9
  • cell & other
  • specifically associates with non-methylated CpG sites (Thomson 2010)
  • REGULATION
    activated by proteolytic cleavage, which removed the C-terminal inhibitory region.
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in colon and lung cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS