SpermatogenesisOnline 1.0
 

Tag Content
SG ID
SG00000438 
UniProt Accession
Theoretical PI
8.64  
Molecular Weight
95751 Da  
Genbank Nucleotide ID
Genbank Protein ID
Gene Name
DNMT3B 
Gene Synonyms/Alias
 
Protein Name
DNA (cytosine-5)-methyltransferase 3B 
Protein Synonyms/Alias
Dnmt3bEC=2.1.1.37 DNA methyltransferase HsaIIIB;DNA MTase HsaIIIBM.HsaIIIB 
Organism
Homo sapiens (Human) 
NCBI Taxonomy ID
9606 
Chromosome Location
chr:20;31350191-31397162;1
View in Ensembl genome browser  
Function in Stage
Function in Cell Type
Description
The global methylation status of germ cells is not affected by spermatogenic defects in spite of aberrant DNMT3B expression indicating the necessity of proper methylation for full spermatogenesis 
The information of related literatures
1. S. K. Adiga, J. Ehmcke, S. Schlatt, S. Kliesch, B. Westernstroer, C. M. Luetjens, J. Wistuba and J. Gromoll (2011) Reduced expression of DNMT3B in the germ cells of patients with bilateral spermatogenic arrest does not lead to changes in the global methylation status. Mol Hum Reprod (): . 

Abstract
DNA methylation events during spermatogenesis have important implications for gamete integrity and transmission of epigenetic information to the next generation. However, the role of DNA methyltransferases in the disorders of human spermatogenesis has not been elucidated. The aim of the present study was to evaluate the expression of DNMT3B, crucial for full germ cell methylation, in testicular germ cells of patients with spermatogenic arrest and to determine whether or not there is an association with the global methylation status. In order to determine the DNMTs expression status at various stages of spermatogenesis, immunohistochemical localization was performed on 16 fertile controls having normal spermatogenesis and 11 patients with bilateral spermatogenic arrest. DNMT3B was expressed in most of the germ cell types in both controls and patients with bilateral spermatogenic arrest. The number of DNMT3B positive preleptotene/zygotene cells and pachytene spermatocytes was significantly lower in patients with bilateral arrest. However, evaluation of 5MEC (5-methylcytosine), a global methylation marker, in the few matured germ cells of these patients did not reveal altered methylation. In conclusion, the global methylation status of germ cells is not affected by spermatogenic defects in spite of aberrant DNMT3B expression indicating the necessity of proper methylation for full spermatogenesis. PMID: [21482616] 

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Figures for illustrating the function of this protein/gene
Ref: S. K. Adiga, J. Ehmcke, S. Schlatt, S. Kliesch, B. Westernstroer, C. M. Luetjens, J. Wistuba and J. Gromoll (2011) Reduced expression of DNMT3B in the germ cells of patients with bilateral spermatogenic arrest does not lead to changes in the global methylation status. Mol Hum Reprod (): . PMID: [21482616]
Function
Required for genome-wide de novo methylation and isessential for the establishment of DNA methylation patterns duringdevelopment. DNA methylation is coordinated with methylation ofhistones. May preferentially methylates nucleosomal DNA within thenucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNAmethylation. Seems to be involved in gene silencing (Bysimilarity). In association with DNMT1 and via the recruitment ofCTCFL/BORIS, involved in activation of BAG1 gene expression bymodulating dimethylation of promoter histone H3 at H3K4 and H3K9.Isoforms 4 and 5 are probably not functional due to the deletionof two conserved methyltransferase motifs. Function astranscriptional corepressor by associating with ZHX1. 
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Subcellular Location
Nucleus. 
Tissue Specificity
Ubiquitous; highly expressed in fetal liver,heart, kidney, placenta, and at lower levels in spleen, colon,brain, liver, small intestine, lung, peripheral blood mononuclearcells, and skeletal muscle. Isoform 1 is expressed in all tissuesexcept brain, skeletal muscle and PBMC, 3 is ubiquitous, 4 isexpressed in all tissues except brain, skeletal muscle, lung andprostate and 5 is detectable only in testis and at very low levelin brain and prostate. 
Gene Ontology
GO IDGO termEvidence
GO:0000775 C:chromosome, centromeric region IEA:Compara.
GO:0005737 C:cytoplasm IEA:Compara.
GO:0005720 C:nuclear heterochromatin IEA:Compara.
GO:0005634 C:nucleus IDA:UniProtKB.
GO:0003886 F:DNA (cytosine-5-)-methyltransferase activity NAS:UniProtKB.
GO:0051718 F:DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates IEA:Compara.
GO:0046872 F:metal ion binding IEA:UniProtKB-KW.
GO:0003714 F:transcription corepressor activity IDA:UniProtKB.
GO:0045322 F:unmethylated CpG binding IEA:Compara.
GO:0071230 P:cellular response to amino acid stimulus IEA:Compara.
GO:0043045 P:DNA methylation involved in embryo development IEA:Compara.
GO:0010424 P:DNA methylation on cytosine within a CG sequence IEA:Compara.
GO:0006346 P:methylation-dependent chromatin silencing IEA:Compara.
GO:0051573 P:negative regulation of histone H3-K9 methylation IMP:UniProtKB.
GO:0000122 P:negative regulation of transcription from RNA polymerase II promoter IDA:UniProtKB.
GO:0010628 P:positive regulation of gene expression IMP:UniProtKB.
GO:0051571 P:positive regulation of histone H3-K4 methylation IMP:UniProtKB.
GO:0045666 P:positive regulation of neuron differentiation IEA:Compara.
GO:0031503 P:protein complex localization IEA:Compara.
GO:0006349 P:regulation of gene expression by genetic imprinting IEA:Compara.
GO:0042493 P:response to drug IEA:Compara.
GO:0010212 P:response to ionizing radiation IEA:Compara.
GO:0046498 P:S-adenosylhomocysteine metabolic process IEA:Compara.
GO:0046499 P:S-adenosylmethioninamine metabolic process IEA:Compara.
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Interpro
IPR025766;    ADD.
IPR018117;    C5_DNA_meth_AS.
IPR001525;    C5_MeTfrase.
IPR025811;    C5_MeTrfase_3.
IPR000313;    PWWP.
IPR011011;    Znf_FYVE_PHD.
IPR013083;    Znf_RING/FYVE/PHD.
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Pfam
PF00145;    DNA_methylase;    1.
PF00855;    PWWP;    1.
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SMART
SM00293;    PWWP;    1.
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PROSITE
PS51533;    ADD;    1.
PS00094;    C5_MTASE_1;    1.
PS00095;    C5_MTASE_2;    FALSE_NEG.
PS50812;    PWWP;    1.
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PRINTS
Created Date
18-Oct-2012 
Record Type
Experiment identified 
Protein sequence Annotation
CHAIN         1    853       DNA (cytosine-5)-methyltransferase 3B.
                             /FTId=PRO_0000088045.
DOMAIN      225    283       PWWP.
DOMAIN      423    555       ADD.
ZN_FING     434    464       GATA-type; atypical.
ZN_FING     475    531       PHD-type; atypical.
REGION        1    298       Interaction with DNMT1 and DNMT3A.
REGION      435    527       Interaction with the PRC2/EED-EZH2
                             complex (By similarity).
REGION      582    586       S-adenosyl-L-methionine binding (By
                             similarity).
REGION      627    629       S-adenosyl-L-methionine binding (By
                             similarity).
REGION      832    834       S-adenosyl-L-methionine binding (By
                             similarity).
ACT_SITE    651    651       By similarity.
BINDING     605    605       S-adenosyl-L-methionine (By similarity).
VAR_SEQ       1      1       M -> MEPSPEPPSLESM (in isoform 6).
                             /FTId=VSP_005636.
VAR_SEQ     356    375       Missing (in isoform 2, isoform 3, isoform
                             4, isoform 5 and isoform 6).
                             /FTId=VSP_005637.
VAR_SEQ     744    744       R -> S (in isoform 4).
                             /FTId=VSP_005639.
VAR_SEQ     745    853       Missing (in isoform 4).
                             /FTId=VSP_005640.
VAR_SEQ     745    807       Missing (in isoform 3).
                             /FTId=VSP_005638.
VAR_SEQ     768    853       LKKVQTITTKSNSIKQGKNQLFPVVMNGKEDVLWCTELERI
                             FGFPVHYTDVSNMGRGARQKLLGRSWSVPVIRHLFAPLKDY
                             FACE -> DLWLSCALHRRVQHGPWCPPEAAGKVLERACHP
                             TPLRPSEGLLCM (in isoform 5).
                             /FTId=VSP_005641.
VARIANT      54     54       R -> P (in dbSNP:rs17123590).
                             /FTId=VAR_033885.
VARIANT     270    270       S -> P (in ICF1; dbSNP:rs121908947).
                             /FTId=VAR_022579.
VARIANT     585    585       A -> V (in ICF1).
                             /FTId=VAR_011506.
VARIANT     603    603       A -> T (in ICF1; dbSNP:rs121908943).
                             /FTId=VAR_011499.
VARIANT     606    606       V -> A (in ICF1; dbSNP:rs146981624).
                             /FTId=VAR_011507.
VARIANT     663    663       G -> S (in ICF1; dbSNP:rs121908942).
                             /FTId=VAR_011500.
VARIANT     664    664       L -> P (in ICF1).
                             /FTId=VAR_022580.
VARIANT     699    699       V -> G (in ICF1).
                             /FTId=VAR_011508.
VARIANT     726    726       V -> G (in ICF1; dbSNP:rs121908941).
                             /FTId=VAR_011501.
VARIANT     766    766       A -> P (in ICF1).
                             /FTId=VAR_011509.
VARIANT     806    806       E -> ESTP (in ICF1).
                             /FTId=VAR_011502.
VARIANT     814    814       H -> R (in ICF1).
                             /FTId=VAR_011510.
VARIANT     817    817       D -> G (in ICF1; dbSNP:rs121908939).
                             /FTId=VAR_011503.
VARIANT     818    818       V -> M (in ICF1; dbSNP:rs121908940).
                             /FTId=VAR_011504.
VARIANT     840    840       R -> Q (in ICF1; dbSNP:rs121908946).
                             /FTId=VAR_022581.
STRAND      228    231
STRAND      239    244
HELIX       246    249
STRAND      258    263
TURN        264    266
STRAND      269    273
TURN        274    276
HELIX       283    286
HELIX       289    294
HELIX       296    313
HELIX       325    337
TURN        341    343
HELIX       345    348
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Nucleotide Sequence
Length: 3897 bp   Go to nucleotide: FASTA
Protein Sequence
Length: 853 bp   Go to amino acid: FASTA
The verified Protein-Protein interaction information
UniProt
 Gene Symbol Ref Databases
hNp95BioGRID 
CBX3BioGRID 
SUMO1BioGRID 
BAZ2ABioGRID 
CBX1HPRD 
CBX3BioGRID 
CBX5HPRD 
NCAPGHPRD 
DNMT3ABioGRID 
hNp95BioGRID 
SUMO1BioGRID 
_BioGRID 
_BioGRID 
CBX5BioGRID 
NCAPGBioGRID 
DNMT3AHPRD 
DNMT1HPRD 
EEDHPRD 
EZH2HPRD 
HDAC1HPRD 
HDAC2BioGRID 
KIF4ABioGRID 
MBD4BioGRID 
SPENString 
SMC2BioGRID 
SMC2BioGRID 
UHRF1BioGRID 
_BioGRID 
SMC2BioGRID 
HDAC1HPRD 
SMC2BioGRID 
SIN3ABioGRID 
SMC2BioGRID 
SMC4BioGRID 
SMARCA5BioGRID 
SUMO1HPRD 
SUV39H1HPRD 
TDGBioGRID 
UBE2IBioGRID 
UHRF1BioGRID 
DNMT3LHPRD 
DNMT1BioGRID 
DNMT3ABioGRID 
EEDBioGRID 
EHMT2DIP 
EZH2BioGRID 
HDAC1BioGRID 
HELLSBioGRID 
SPENString 
UHRF1BioGRID 
CBX1HPRD 
HDAC1BioGRID 
DNMT3ABioGRID 
SETDB1BioGRID 
SMARCA5BioGRID 
SPI1HPRD 
SUMO1BioGRID 
SUV39H1BioGRID 
UBE2IHPRD 
UHRF1BioGRID 
ZNF238HPRD 
Other Protein-Protein interaction resources
String database  
View Microarray data
Temporarily unavailable 
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