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Aliases for DNMT3L Gene

Aliases for DNMT3L Gene

  • DNA (Cytosine-5-)-Methyltransferase 3-Like 2 3
  • Human Cytosine-5-Methyltransferase 3-Like Protein 2
  • Cytosine-5-Methyltransferase 3-Like Protein 2

External Ids for DNMT3L Gene

Summaries for DNMT3L Gene

Entrez Gene Summary for DNMT3L Gene

  • 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]

GeneCards Summary for DNMT3L Gene

DNMT3L (DNA (Cytosine-5-)-Methyltransferase 3-Like) is a Protein Coding gene. Diseases associated with DNMT3L include testis seminoma and seminoma. Among its related pathways are One carbon pool by folate. GO annotations related to this gene include enzyme binding and enzyme activator activity. An important paralog of this gene is DNMT3A.

UniProtKB/Swiss-Prot for DNMT3L Gene

  • Catalytically inactive regulatory factor of DNA methyltransferases. It is essential for the function of DNMT3A and DNMT3B. Activates DNMT3A and DNMT3B by binding to their catalytic domain. Accelerates the binding of DNA and AdoMet to the methyltransferases and dissociates from the complex after DNA binding to the methyltransferases. Recognizes unmethylated histone H3 lysine 4 (H3K4) and induces de novo DNA methylation by recruitment or activation of DNMT3.

Gene Wiki entry for DNMT3L Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNMT3L Gene

Genomics for DNMT3L Gene

Genomic Location for DNMT3L Gene

Start:
44,246,339 bp from pter
End:
44,262,216 bp from pter
Size:
15,878 bases
Orientation:
Minus strand

Genomic View for DNMT3L Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DNMT3L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNMT3L Gene

Regulatory Elements for DNMT3L Gene

Proteins for DNMT3L Gene

  • Protein details for DNMT3L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJW3-DNM3L_HUMAN
    Recommended name:
    DNA (cytosine-5)-methyltransferase 3-like
    Protein Accession:
    Q9UJW3
    Secondary Accessions:
    • E9PB42
    • Q9BUJ4

    Protein attributes for DNMT3L Gene

    Size:
    386 amino acids
    Molecular mass:
    43583 Da
    Quaternary structure:
    • Homodimer. Heterotetramer composed of 1 DNMT3A homodimer and 2 DNMT3L subunits (DNMT3L-DNMT3A-DNMT3A-DNMT3L). Interacts with histone H3 (via N-terminus).
    Miscellaneous:
    • Interaction with histone H3 is strongly inhibited by methylation at lysine 4 (H3K4me)

    Three dimensional structures from OCA and Proteopedia for DNMT3L Gene

    Alternative splice isoforms for DNMT3L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNMT3L Gene

Proteomics data for DNMT3L Gene at MOPED

Post-translational modifications for DNMT3L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNMT3L Gene

No data available for DME Specific Peptides for DNMT3L Gene

Domains for DNMT3L Gene

Protein Domains for DNMT3L Gene

UniProtKB/Swiss-Prot:

DNM3L_HUMAN
Domain:
  • Contains 1 ADD domain.:
    • Q9UJW3
Similarity:
  • Contains 1 GATA-type zinc finger.:
    • Q9UJW3
  • Contains 1 PHD-type zinc finger.:
    • Q9UJW3
genes like me logo Genes that share domains with DNMT3L: view

No data available for Gene Families for DNMT3L Gene

Function for DNMT3L Gene

Molecular function for DNMT3L Gene

UniProtKB/Swiss-Prot Function: Catalytically inactive regulatory factor of DNA methyltransferases. It is essential for the function of DNMT3A and DNMT3B. Activates DNMT3A and DNMT3B by binding to their catalytic domain. Accelerates the binding of DNA and AdoMet to the methyltransferases and dissociates from the complex after DNA binding to the methyltransferases. Recognizes unmethylated histone H3 lysine 4 (H3K4) and induces de novo DNA methylation by recruitment or activation of DNMT3.

Gene Ontology (GO) - Molecular Function for DNMT3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12202768
GO:0008047 enzyme activator activity IDA 16543361
GO:0019899 enzyme binding IPI 12202768
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DNMT3L: view
genes like me logo Genes that share phenotypes with DNMT3L: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for DNMT3L Gene

Localization for DNMT3L Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNMT3L Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DNMT3L Gene COMPARTMENTS Subcellular localization image for DNMT3L gene
Compartment Confidence
cytosol 5
nucleus 5
extracellular 1

Gene Ontology (GO) - Cellular Components for DNMT3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 12202768
GO:0005829 cytosol IDA 16780588
genes like me logo Genes that share ontologies with DNMT3L: view

Pathways for DNMT3L Gene

genes like me logo Genes that share pathways with DNMT3L: view

Pathways by source for DNMT3L Gene

1 BioSystems pathway for DNMT3L Gene

Gene Ontology (GO) - Biological Process for DNMT3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006306 DNA methylation NAS 12202768
GO:0006349 regulation of gene expression by genetic imprinting NAS 12202768
GO:0007283 spermatogenesis NAS 11934864
GO:0010467 gene expression TAS --
GO:0032776 DNA methylation on cytosine TAS --
genes like me logo Genes that share ontologies with DNMT3L: view

Compounds for DNMT3L Gene

(2) HMDB Compounds for DNMT3L Gene

Compound Synonyms Cas Number PubMed IDs
S-Adenosylhomocysteine
  • (S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine
979-92-0
S-Adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
29908-03-0

(3) Novoseek inferred chemical compound relationships for DNMT3L Gene

Compound -log(P) Hits PubMed IDs
cytosine 48.2 4
s-adenosylmethionine 39 5
zinc 7.39 2
genes like me logo Genes that share compounds with DNMT3L: view

Transcripts for DNMT3L Gene

mRNA/cDNA for DNMT3L Gene

Unigene Clusters for DNMT3L Gene

DNA (cytosine-5-)-methyltransferase 3-like:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DNMT3L Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1:
SP2:

Relevant External Links for DNMT3L Gene

GeneLoc Exon Structure for
DNMT3L
ECgene alternative splicing isoforms for
DNMT3L

Expression for DNMT3L Gene

mRNA expression in normal human tissues for DNMT3L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNMT3L Gene

This gene is overexpressed in Liver (21.0) and Kidney - Cortex (20.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DNMT3L Gene

SOURCE GeneReport for Unigene cluster for DNMT3L Gene Hs.592165

mRNA Expression by UniProt/SwissProt for DNMT3L Gene

Q9UJW3-DNM3L_HUMAN
Tissue specificity: Expressed at low levels in several tissues including testis, ovary, and thymus
genes like me logo Genes that share expressions with DNMT3L: view

Orthologs for DNMT3L Gene

This gene was present in the common ancestor of chordates.

Orthologs for DNMT3L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNMT3L 36
  • 99.4 (n)
  • 99.22 (a)
DNMT3L 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DNMT3L 36
  • 81.84 (n)
  • 79.47 (a)
DNMT3L 37
  • 70 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNMT3L 36
  • 80.26 (n)
  • 75.3 (a)
DNMT3L 37
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnmt3l 36
  • 71.63 (n)
  • 65.16 (a)
Dnmt3l 16
Dnmt3l 37
  • 54 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DNMT3L 37
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnmt3l 36
  • 72.37 (n)
  • 66.84 (a)
lizard
(Anolis carolinensis)
Reptilia DNMT3L 37
  • 39 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.20876 36
zebrafish
(Danio rerio)
Actinopterygii dnmt3 37
  • 9 (a)
ManyToMany
dnmt3b 37
  • 9 (a)
ManyToMany
dnmt5 37
  • 10 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 17 (a)
OneToMany
Species with no ortholog for DNMT3L:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNMT3L Gene

ENSEMBL:
Gene Tree for DNMT3L (if available)
TreeFam:
Gene Tree for DNMT3L (if available)

Paralogs for DNMT3L Gene

Paralogs for DNMT3L Gene

Selected SIMAP similar genes for DNMT3L Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DNMT3L: view

Variants for DNMT3L Gene

Sequence variations from dbSNP and Humsavar for DNMT3L Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs762424 -- 44,259,347(+) TGGGA(A/G)GAAAA intron-variant
rs968447 -- 44,255,661(+) GGCCC(C/T)GGCTT intron-variant
rs968448 -- 44,255,944(+) AGGGT(A/G)CAGGA intron-variant
rs1005078 -- 44,250,505(-) acaca(C/T)gcaca intron-variant
rs1005164 -- 44,260,220(+) accca(C/T)gttga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DNMT3L Gene

Variant ID Type Subtype PubMed ID
esv33817 CNV Loss 17666407
nsv913887 CNV Loss 21882294
nsv913898 CNV Loss 21882294
nsv913902 CNV Loss 21882294
dgv4767n71 CNV Loss 21882294
nsv913906 CNV Loss 21882294
nsv526276 CNV Loss 19592680
nsv913907 CNV Loss 21882294
esv2723638 CNV Deletion 23290073
dgv4768n71 CNV Loss 21882294
dgv4769n71 CNV Loss 21882294
dgv4770n71 CNV Loss 21882294
esv2659125 CNV Deletion 23128226
esv23445 CNV Gain+Loss 19812545

Relevant External Links for DNMT3L Gene

HapMap Linkage Disequilibrium report
DNMT3L
Human Gene Mutation Database (HGMD)
DNMT3L

Disorders for DNMT3L Gene

(2) MalaCards Diseases for DNMT3L Gene

Search for DNMT3L Gene in MalaCards »

(1) University of Copenhagen DISEASES for DNMT3L Gene

Relevant External Links for DNMT3L

Genetic Association Database (GAD)
DNMT3L
Human Genome Epidemiology (HuGE) Navigator
DNMT3L
genes like me logo Genes that share disorders with DNMT3L: view

No data available for UniProtKB/Swiss-Prot for DNMT3L Gene

Publications for DNMT3L Gene

  1. Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family. (PMID: 10857753) Aapola U. … Peterson P. (Genomics 2000) 2 3 4 23
  2. DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA. (PMID: 17687327) Ooi S.K. … Bestor T.H. (Nature 2007) 3 4 23
  3. Structure of Dnmt3a bound to Dnmt3L suggests a model for de novo DNA methylation. (PMID: 17713477) Jia D. … Cheng X. (Nature 2007) 3 4 23
  4. A systematic search for DNA methyltransferase polymorphisms reveals a rare DNMT3L variant associated with subtelomeric hypomethylation. (PMID: 19246518) El-Maarri O. … ChAcdin F. (Hum. Mol. Genet. 2009) 3 23 49
  5. Reconstitution and mechanism of the stimulation of de novo methylation by human DNMT3L. (PMID: 16829525) Kareta M.S. … ChAcdin F. (J. Biol. Chem. 2006) 3 23

Products for DNMT3L Gene

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Polycomb & Trithorax Complexes in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate DNMT3L
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for DNMT3L
    • Block miRNA regulation of DNMT3L using miScript Target Protectors

    Sources for DNMT3L Gene

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