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Aliases for MBD3L1 Gene

Aliases for MBD3L1 Gene

  • Methyl-CpG Binding Domain Protein 3 Like 1 2 3 5
  • MBD3-Like Protein 1 3 4
  • MBD3L 3 4
  • Methyl-CpG-Binding Domain Protein 3-Like 1 3
  • Methyl-CpG Binding Domain Protein 3-Like 2

External Ids for MBD3L1 Gene

Previous HGNC Symbols for MBD3L1 Gene

  • MBD3L

Previous GeneCards Identifiers for MBD3L1 Gene

  • GC19U900020
  • GC19P008798
  • GC19P008814
  • GC19P008953
  • GC19P008530

Summaries for MBD3L1 Gene

Entrez Gene Summary for MBD3L1 Gene

  • This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein is localized to discrete areas in the nucleus, and expression appears to be restricted to round spermatids, suggesting that the protein plays a role in the postmeiotic stages of male germ cell development. [provided by RefSeq, Jul 2008]

GeneCards Summary for MBD3L1 Gene

MBD3L1 (Methyl-CpG Binding Domain Protein 3 Like 1) is a Protein Coding gene. An important paralog of this gene is MBD3.

UniProtKB/Swiss-Prot for MBD3L1 Gene

  • Transcriptional repressor.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MBD3L1 Gene

Genomics for MBD3L1 Gene

Regulatory Elements for MBD3L1 Gene

Enhancers for MBD3L1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F009043 0.4 ENCODE 10.7 +211.3 211262 0.2 JUND FOS ACTL9 MBD3L1 TRQ-TTG8-1 GC19P009058
GH19F008831 1 ENCODE 0.8 0.0 -27 2.4 ATF1 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 GLIS2 ELK1 ZNF558 MBD3L1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MBD3L1 on UCSC Golden Path with GeneCards custom track

Promoters for MBD3L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000343109 3 2399 ATF1 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 GLIS2 ELK1 KLF13

Genomic Location for MBD3L1 Gene

Chromosome:
19
Start:
8,832,398 bp from pter
End:
8,843,340 bp from pter
Size:
10,943 bases
Orientation:
Plus strand

Genomic View for MBD3L1 Gene

Genes around MBD3L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBD3L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MBD3L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBD3L1 Gene

Proteins for MBD3L1 Gene

  • Protein details for MBD3L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWY6-MB3L1_HUMAN
    Recommended name:
    Methyl-CpG-binding domain protein 3-like 1
    Protein Accession:
    Q8WWY6
    Secondary Accessions:
    • B5BUM6
    • Q2M291

    Protein attributes for MBD3L1 Gene

    Size:
    194 amino acids
    Molecular mass:
    21616 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Does not bind methylated DNA.
    • The MBD3L proteins are encoded by strongly repeated regions of the 19p13 chromosome. The exact number of functional copies is unclear, and some of them may represent pseudogenes.

neXtProt entry for MBD3L1 Gene

Post-translational modifications for MBD3L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MBD3L1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MBD3L1 Gene

Domains & Families for MBD3L1 Gene

Protein Domains for MBD3L1 Gene

Suggested Antigen Peptide Sequences for MBD3L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WWY6

UniProtKB/Swiss-Prot:

MB3L1_HUMAN :
  • The N-terminal half of the protein mediates transcription repression.
  • Belongs to the MBD3L family.
Domain:
  • The N-terminal half of the protein mediates transcription repression.
Family:
  • Belongs to the MBD3L family.
genes like me logo Genes that share domains with MBD3L1: view

No data available for Gene Families for MBD3L1 Gene

Function for MBD3L1 Gene

Molecular function for MBD3L1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor.

Gene Ontology (GO) - Molecular Function for MBD3L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008327 methyl-CpG binding IBA --
genes like me logo Genes that share ontologies with MBD3L1: view

Phenotypes for MBD3L1 Gene

genes like me logo Genes that share phenotypes with MBD3L1: view

Animal Models for MBD3L1 Gene

MGI Knock Outs for MBD3L1:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for MBD3L1 Gene

Localization for MBD3L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBD3L1 Gene

Nucleus. Note=Nuclear, in large foci.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MBD3L1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MBD3L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with MBD3L1: view

Pathways & Interactions for MBD3L1 Gene

SuperPathways for MBD3L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MBD3L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IBA --
GO:0006346 methylation-dependent chromatin silencing IBA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with MBD3L1: view

No data available for Pathways by source and SIGNOR curated interactions for MBD3L1 Gene

Transcripts for MBD3L1 Gene

mRNA/cDNA for MBD3L1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MBD3L1 Gene

Methyl-CpG binding domain protein 3-like 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MBD3L1 Gene

No ASD Table

Relevant External Links for MBD3L1 Gene

GeneLoc Exon Structure for
MBD3L1
ECgene alternative splicing isoforms for
MBD3L1

Expression for MBD3L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MBD3L1 Gene

mRNA differential expression in normal tissues according to GTEx for MBD3L1 Gene

This gene is overexpressed in Testis (x50.2).

NURSA nuclear receptor signaling pathways regulating expression of MBD3L1 Gene:

MBD3L1

SOURCE GeneReport for Unigene cluster for MBD3L1 Gene:

Hs.133912

mRNA Expression by UniProt/SwissProt for MBD3L1 Gene:

Q8WWY6-MB3L1_HUMAN
Tissue specificity: Highly expressed in testis. Detected at low levels in pancreas. Not detected in the other tissues tested.
genes like me logo Genes that share expression patterns with MBD3L1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for MBD3L1 Gene

Orthologs for MBD3L1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MBD3L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MBD3L1 34 35
  • 98.63 (n)
dog
(Canis familiaris)
Mammalia MBD3L1 34 35
  • 78.43 (n)
cow
(Bos Taurus)
Mammalia MBD3L1 34 35
  • 75.61 (n)
rat
(Rattus norvegicus)
Mammalia Mbd3l1 34
  • 73.93 (n)
mouse
(Mus musculus)
Mammalia Mbd3l1 34 16 35
  • 73.74 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 32 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 28 (a)
OneToMany
chicken
(Gallus gallus)
Aves MBD3 35
  • 38 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii mbd3b 35
  • 33 (a)
ManyToMany
mbd3a 35
  • 30 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta MBD-like 35
  • 14 (a)
OneToMany
Species where no ortholog for MBD3L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 MBD3L1 Gene

ENSEMBL:
Gene Tree for MBD3L1 (if available)
TreeFam:
Gene Tree for MBD3L1 (if available)

Paralogs for MBD3L1 Gene

Paralogs for MBD3L1 Gene

(7) SIMAP similar genes for MBD3L1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MBD3L1: view

Variants for MBD3L1 Gene

Sequence variations from dbSNP and Humsavar for MBD3L1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10417404 -- 8,843,618(+) tactc(A/G)ggagg downstream-variant-500B
rs112171049 -- 8,842,278(+) GCTGT(G/T)ATTGC upstream-variant-2KB
rs112610466 -- 8,842,099(+) GAGGG(C/G)GGGTG upstream-variant-2KB
rs113238682 -- 8,843,241(+) CCAAG(A/G)AGGCC reference, missense
rs113244355 -- 8,842,891(+) AGACT(A/C/G)CAGGG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for MBD3L1 Gene

Variant ID Type Subtype PubMed ID
nsv483078 CNV gain+loss 15286789
nsv469648 CNV gain+loss 16826518
nsv428362 CNV gain+loss 18775914
esv3574308 CNV gain 25503493
esv2762024 CNV gain 21179565
esv2758744 CNV gain+loss 17122850
dgv48n68 CNV gain 17160897

Variation tolerance for MBD3L1 Gene

Residual Variation Intolerance Score: 67.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.73; 46.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MBD3L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBD3L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBD3L1 Gene

Disorders for MBD3L1 Gene

Relevant External Links for MBD3L1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MBD3L1

No disorders were found for MBD3L1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MBD3L1 Gene

Publications for MBD3L1 Gene

  1. MBD3L1 and MBD3L2, two new proteins homologous to the methyl-CpG- binding proteins MBD2 and MBD3: characterization of MBD3L1 as a testis-specific transcriptional repressor. (PMID: 12504854) Jiang C.-L. … Pfeifer G.P. (Genomics 2002) 2 3 4 22 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. Unique features of the anti-parallel, heterodimeric coiled-coil interaction between methyl-cytosine binding domain 2 (MBD2) homologues and GATA zinc finger domain containing 2A (GATAD2A/p66I+). (PMID: 23239876) Walavalkar N.M. … Williams D.C. (J. Biol. Chem. 2013) 3 64
  5. Human protein factory for converting the transcriptome into an in vitro-expressed proteome. (PMID: 19054851) Goshima N. … Nomura N. (Nat. Methods 2008) 4 64

Products for MBD3L1 Gene

Sources for MBD3L1 Gene

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