Human Gene MBD3 (uc002ltl.1)
  Description: Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr19:1,576,678-1,592,652 Size: 15,975 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr19:1,578,339-1,592,630 Size: 14,292 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:1,576,678-1,592,652)mRNA (may differ from genome)Protein (291 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
PubMedReactomeTreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: MBD3_HUMAN
DESCRIPTION: RecName: Full=Methyl-CpG-binding domain protein 3; AltName: Full=Methyl-CpG-binding protein MBD3;
FUNCTION: Does not bind DNA by itself. Recruits histone deacetylases and DNA methyltransferases. Acts as transcriptional repressor and plays a role in gene silencing.
SUBUNIT: Heterodimer with MBD2. Part of the NuRD and the MeCP1 complex. Binds HDAC1, MTA2, DNMT1, p66-alpha and p66-beta.
INTERACTION: P17844:DDX5; NbExp=4; IntAct=EBI-1783068, EBI-351962;
SUBCELLULAR LOCATION: Nucleus. Note=Nuclear, in discrete foci.
SIMILARITY: Contains 1 MBD (methyl-CpG-binding) domain.
SEQUENCE CAUTION: Sequence=AAH32443.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.98 RPKM in Brain - Cortex
Total median expression: 61.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.6022-0.345 Picture PostScript Text
3' UTR -820.401661-0.494 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016177 - DNA-bd_integrase-typ
IPR025884 - MeCpG-bd_2/3_C_dom
IPR001739 - Methyl_CpG_DNA-bd

Pfam Domains:
PF01429 - Methyl-CpG binding domain
PF14048 - C-terminal domain of methyl-CpG binding protein 2 and 3
PF16564 - p55-binding region of Methyl-CpG-binding domain proteins MBD

SCOP Domains:
54171 - DNA-binding domain

ModBase Predicted Comparative 3D Structure on O95983
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
 Protein SequenceProtein Sequence Protein Sequence 
 AlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0004407 histone deacetylase activity
GO:0005515 protein binding
GO:0008327 methyl-CpG binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0031492 nucleosomal DNA binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001701 in utero embryonic development
GO:0006346 methylation-dependent chromatin silencing
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007420 brain development
GO:0007507 heart development
GO:0007568 aging
GO:0009888 tissue development
GO:0014070 response to organic cyclic compound
GO:0016573 histone acetylation
GO:0016575 histone deacetylation
GO:0031667 response to nutrient levels
GO:0032355 response to estradiol
GO:0043044 ATP-dependent chromatin remodeling
GO:0044030 regulation of DNA methylation
GO:0048568 embryonic organ development

Cellular Component:
GO:0000785 chromatin
GO:0000790 nuclear chromatin
GO:0000792 heterochromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0016581 NuRD complex
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  AK001474 - Homo sapiens cDNA FLJ10612 fis, clone NT2RP2005358, highly similar to Methyl-CpG-binding domain protein 3.
BC000872 - Homo sapiens methyl-CpG binding domain protein 3, mRNA (cDNA clone IMAGE:3460410).
BC018784 - Homo sapiens, clone IMAGE:4873970, mRNA, partial cds.
BC032443 - Homo sapiens methyl-CpG binding domain protein 3, mRNA (cDNA clone IMAGE:5123212), partial cds.
BC009438 - Homo sapiens methyl-CpG binding domain protein 3, mRNA (cDNA clone IMAGE:3508344), partial cds.
BC009372 - Homo sapiens methyl-CpG binding domain protein 3, mRNA (cDNA clone MGC:16640 IMAGE:4122128), complete cds.
BC043619 - Homo sapiens methyl-CpG binding domain protein 3, mRNA (cDNA clone MGC:50958 IMAGE:6156267), complete cds.
AK021532 - Homo sapiens cDNA FLJ11470 fis, clone HEMBA1001672, highly similar to Homo sapiens methyl-CpG binding domain-containing protein MBD3 (MBD3) mRNA.
AF072247 - Homo sapiens methyl-CpG binding domain-containing protein MBD3 (MBD3) mRNA, complete cds.
JD422923 - Sequence 403947 from Patent EP1572962.
JD220500 - Sequence 201524 from Patent EP1572962.
JD347216 - Sequence 328240 from Patent EP1572962.
JD215144 - Sequence 196168 from Patent EP1572962.
JD230324 - Sequence 211348 from Patent EP1572962.
JD212255 - Sequence 193279 from Patent EP1572962.
JD471751 - Sequence 452775 from Patent EP1572962.
JD404979 - Sequence 386003 from Patent EP1572962.
JD396672 - Sequence 377696 from Patent EP1572962.
JD206991 - Sequence 188015 from Patent EP1572962.
JD341229 - Sequence 322253 from Patent EP1572962.
JD272507 - Sequence 253531 from Patent EP1572962.
JD222370 - Sequence 203394 from Patent EP1572962.
JD477484 - Sequence 458508 from Patent EP1572962.
DQ585979 - Homo sapiens piRNA piR-53091, complete sequence.
JD400149 - Sequence 381173 from Patent EP1572962.
JD519884 - Sequence 500908 from Patent EP1572962.
JD209618 - Sequence 190642 from Patent EP1572962.
JD519883 - Sequence 500907 from Patent EP1572962.
JD423213 - Sequence 404237 from Patent EP1572962.
JD230335 - Sequence 211359 from Patent EP1572962.
JD371633 - Sequence 352657 from Patent EP1572962.
JD438318 - Sequence 419342 from Patent EP1572962.
JD415630 - Sequence 396654 from Patent EP1572962.
JD477858 - Sequence 458882 from Patent EP1572962.
JD541833 - Sequence 522857 from Patent EP1572962.
JD347020 - Sequence 328044 from Patent EP1572962.
JD392831 - Sequence 373855 from Patent EP1572962.
JD390924 - Sequence 371948 from Patent EP1572962.
JD231835 - Sequence 212859 from Patent EP1572962.
JD478109 - Sequence 459133 from Patent EP1572962.
DQ577057 - Homo sapiens piRNA piR-45169, complete sequence.
DQ579488 - Homo sapiens piRNA piR-47600, complete sequence.
JD407223 - Sequence 388247 from Patent EP1572962.
JD521673 - Sequence 502697 from Patent EP1572962.
JD119463 - Sequence 100487 from Patent EP1572962.
JD191951 - Sequence 172975 from Patent EP1572962.
AK290882 - Homo sapiens cDNA FLJ76158 complete cds, highly similar to Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA.
JD218261 - Sequence 199285 from Patent EP1572962.
JD150533 - Sequence 131557 from Patent EP1572962.
JD464465 - Sequence 445489 from Patent EP1572962.
JD464815 - Sequence 445839 from Patent EP1572962.
JD204647 - Sequence 185671 from Patent EP1572962.
JD540161 - Sequence 521185 from Patent EP1572962.
JD106230 - Sequence 87254 from Patent EP1572962.
JD156054 - Sequence 137078 from Patent EP1572962.
JD194061 - Sequence 175085 from Patent EP1572962.
JD192183 - Sequence 173207 from Patent EP1572962.
JD196719 - Sequence 177743 from Patent EP1572962.
JD282459 - Sequence 263483 from Patent EP1572962.
JD475439 - Sequence 456463 from Patent EP1572962.
AB528617 - Synthetic construct DNA, clone: pF1KB6342, Homo sapiens MBD3 gene for methyl-CpG binding domain protein 3, without stop codon, in Flexi system.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_mta3Pathway - Downregulated of MTA-3 in ER-negative Breast Tumors

Reactome (by CSHL, EBI, and GO)

Protein O95983 (Reactome details) participates in the following event(s):

R-HSA-427404 Recruitment of ERCC6 (CSB), EHMT2 (G9a), and NuRD to the promoter of rRNA gene
R-HSA-8943780 SALL4 recruits NuRD to PTEN gene
R-HSA-6805650 MTA2-NuRD complex deacetylates TP53
R-HSA-427336 TTF1:rRNA promoter:ERCC6:EHMT2 complex dimethylates histone H3 at lysine-9.
R-HSA-3769447 HDAC1/2 containing-complexes deacetylate histones
R-HSA-427389 ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
R-HSA-8943724 Regulation of PTEN gene transcription
R-HSA-5250913 Positive epigenetic regulation of rRNA expression
R-HSA-6807070 PTEN Regulation
R-HSA-6804758 Regulation of TP53 Activity through Acetylation
R-HSA-3214815 HDACs deacetylate histones
R-HSA-212165 Epigenetic regulation of gene expression
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-5633007 Regulation of TP53 Activity
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-74160 Gene expression (Transcription)
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-4839726 Chromatin organization
R-HSA-162582 Signal Transduction
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription

-  Other Names for This Gene
  Alternate Gene Symbols: A8K4B7, D6W5Z2, MBD3_HUMAN, NM_003926, NP_003917, O95983, Q6PIL9, Q6PJZ9, Q86XF4
UCSC ID: uc002ltl.1
RefSeq Accession: NM_003926
Protein: O95983 (aka MBD3_HUMAN)
CCDS: CCDS12072.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003926.5
exon count: 6CDS single in 3' UTR: no RNA size: 2559
ORF size: 876CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1952.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 1656# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.