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    DNMT3L DNA methyltransferase 3 like [ Homo sapiens (human) ]

    Gene ID: 29947, updated on 5-Nov-2017
    Official Symbol
    DNMT3Lprovided by HGNC
    Official Full Name
    DNA methyltransferase 3 likeprovided by HGNC
    Primary source
    HGNC:HGNC:2980
    See related
    Ensembl:ENSG00000142182 MIM:606588; Vega:OTTHUMG00000086914
    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
    Summary
    CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein with similarity to DNA methyltransferases, but is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, it does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
    Orthologs
    Location:
    21q22.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 21 NC_000021.9 (44246339..44262216, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (45666222..45682099, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107983952 Neighboring gene uncharacterized LOC102725065 Neighboring gene inducible T-cell costimulator ligand Neighboring gene uncharacterized LOC105372833 Neighboring gene autoimmune regulator Neighboring gene phosphofructokinase, liver type

    • 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?

    • DNA methylation, organism-specific biosystem (from REACTOME)
      DNA methylation, organism-specific biosystemMethylation of cytosine is catalyzed by a family of DNA methyltransferases (DNMTs): DNMT1, DNMT3A, and DNMT3B transfer methyl groups from S-adenosylmethionine to cytosine, producing 5-methylcytosine ...
    • 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...
    • Preimplantation Embryo, organism-specific biosystem (from WikiPathways)
      Preimplantation Embryo, organism-specific biosystemThe source of this pathway is RNA-Seq data from single-cell pre-implantation embryos (Supplemental Table 1): http://www.nature.com/nsmb/journal/v20/n9/full/nsmb.2660.html Analysis options for runnin...
    • Trans-sulfuration and one carbon metabolism, organism-specific biosystem (from WikiPathways)
      Trans-sulfuration and one carbon metabolism, organism-specific biosystem
      Trans-sulfuration and one carbon metabolism
    Products Interactant Other Gene Complex Source Pubs Description

    Homology

    Clone Names

    • MGC1090

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enzyme activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA methylation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    DNA methylation involved in gamete generation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    DNA methylation on cytosine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    male meiosis I ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of DNA methylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of DNA methylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of gene expression by genetic imprinting NAS
    Non-traceable Author Statement
    more info
    PubMed 
    spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    spermatogenesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    stem cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    colocalizes_with ESC/E(Z) complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    DNA (cytosine-5)-methyltransferase 3-like
    Names
    DNA (cytosine-5-)-methyltransferase 3-like
    cytosine-5-methyltransferase 3-like protein
    human cytosine-5-methyltransferase 3-like protein

    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_013369.3NP_037501.2  DNA (cytosine-5)-methyltransferase 3-like isoform 1

      See identical proteins and their annotated locations for NP_037501.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF194032, BC002560, BQ028660
      Consensus CDS
      CCDS13705.1
      UniProtKB/Swiss-Prot
      Q9UJW3
      Related
      ENSP00000270172.3, OTTHUMP00000109516, ENST00000270172.7, OTTHUMT00000195820
      Conserved Domains (1) summary
      cl22851
      Location:47169
      PHD_SF; PHD finger superfamily
    2. NM_175867.2NP_787063.1  DNA (cytosine-5)-methyltransferase 3-like isoform 2

      See identical proteins and their annotated locations for NP_787063.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site at the 3' terminal exon compared to variant 1, which results in an isoform (2) that is 1 aa shorter than isoform 1.
      Source sequence(s)
      AF194032, BC002560, BQ028660
      Consensus CDS
      CCDS46650.1
      UniProtKB/Swiss-Prot
      Q9UJW3
      Related
      ENSP00000486001.1, OTTHUMP00000279199, ENST00000628202.2, OTTHUMT00000484073
      Conserved Domains (1) summary
      cl22851
      Location:47169
      PHD_SF; PHD finger superfamily

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p7 Primary Assembly

      Range
      44246339..44262216 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018932.2 Alternate CHM1_1.1

      Range
      45226863..45242733 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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