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Aliases for MBD3L1 Gene

Aliases for MBD3L1 Gene

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

Promoters for MBD3L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MBD3L1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for MBD3L1 Gene at MOPED

Post-translational modifications for MBD3L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MBD3L1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for MBD3L1

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.

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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for MBD3L1 Gene COMPARTMENTS Subcellular localization image for MBD3L1 gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytosol 3
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MBD3L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm 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:0006346 methylation-dependent chromatin silencing IBA --
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

Drugs & Compounds for MBD3L1 Gene

No Compound Related Data Available

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:

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 for MBD3L1 Gene

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

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

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

In Situ Assay 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
cow
(Bos Taurus)
Mammalia MBD3L1 35
  • 75.61 (n)
  • 63.16 (a)
MBD3L1 36
  • 62 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MBD3L1 35
  • 78.43 (n)
  • 66.84 (a)
MBD3L1 36
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mbd3l1 35
  • 73.74 (n)
  • 64.8 (a)
Mbd3l1 16
Mbd3l1 36
  • 62 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MBD3L1 35
  • 98.63 (n)
  • 97.42 (a)
MBD3L1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mbd3l1 35
  • 73.93 (n)
  • 64.25 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 32 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 28 (a)
OneToMany
chicken
(Gallus gallus)
Aves MBD3 36
  • 38 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii mbd3a 36
  • 30 (a)
ManyToMany
mbd3b 36
  • 33 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta MBD-like 36
  • 14 (a)
OneToMany
Species with no ortholog for MBD3L1:
  • 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
rs2972588 - 8,843,246(+) AAGGC(C/T)GTCCT reference, missense
rs2969292 -- 8,843,125(-) TCAGT(A/G)ACCAG reference, synonymous-codon
rs2969293 -- 8,842,004(-) ATCTG(G/T)TTAAC upstream-variant-2KB
rs2972589 -- 8,843,790(+) CAATA(A/G)TTTCT downstream-variant-500B
rs8100230 -- 8,841,379(+) GTGCT(A/G/T)GGAAT upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv469648 CNV Complex 16826518
nsv428362 CNV Gain+Loss 18775914
nsv483078 CNV Complex 15286789
nsv911019 CNV Gain 21882294
dgv48n68 CNV Gain 17160897
dgv1056e1 CNV Complex 17122850

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

HapMap Linkage Disequilibrium report
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 23 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. 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
  4. Methylated-CpG island recovery assay: a new technique for the rapid detection of methylated-CpG islands in cancer. (PMID: 16025148) Rauch T. … Pfeifer G.P. (Lab. Invest. 2005) 23
  5. MBD3L1 is a transcriptional repressor that interacts with methyl-CpG- binding protein 2 (MBD2) and components of the NuRD complex. (PMID: 15456747) Jiang C.-L. … Pfeifer G.P. (J. Biol. Chem. 2004) 3

Products for MBD3L1 Gene

Sources for MBD3L1 Gene

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