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] See more...

Aliases for MBD3L1 Gene

Aliases for MBD3L1 Gene

  • Methyl-CpG Binding Domain Protein 3 Like 1 2 3 5
  • Methyl-CpG-Binding Domain Protein 3-Like 1 3 4
  • MBD3-Like Protein 1 3 4
  • MBD3L 3 4
  • Methyl-CpG Binding Domain Protein 3-Like 2
  • MBD3L1 5

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 MBD3L2.

UniProtKB/Swiss-Prot Summary for MBD3L1 Gene

Additional gene information for MBD3L1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MBD3L1 Gene

Genomics for MBD3L1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MBD3L1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J008831 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas 600.7 0.0 -35 2.5 PRDM10 ZNF629 ZNF692 POLR2A BACH1 TARDBP JUND GABPA MTA2 PHF21A ENSG00000269400 MBD3L1 lnc-MUC16-1 ZNF177 ENSG00000267510 ZNF559 LOC100419831 ZNF558 OR2Z1
GH19J009043 Enhancer 0.5 ENCODE 10.7 +211.3 211262 0.2 JUND ATF3 FOS CBFA2T2 CBFA2T3 ACTL9 MBD3L1 HG983750 TRQ-TTG8-1 RF00017-2795 MUC16 OR1M1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MBD3L1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MBD3L1

Top Transcription factor binding sites by QIAGEN in the MBD3L1 gene promoter:
  • AML1a
  • Arnt
  • GATA-1
  • HOXA5
  • IRF-1
  • ISGF-3
  • LCR-F1
  • RORalpha1
  • RORalpha2
  • STAT5A

Genomic Locations for MBD3L1 Gene

Genomic Locations for MBD3L1 Gene
chr19:8,832,398-8,843,340
(GRCh38/hg38)
Size:
10,943 bases
Orientation:
Plus strand
chr19:8,943,074-8,954,016
(GRCh37/hg19)
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

Gene Families for MBD3L1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MBD3L1 Gene

Suggested Antigen Peptide Sequences for MBD3L1 Gene

GenScript: Design optimal peptide antigens:
  • Methyl-CpG-binding domain protein 3-like 1 (MB3L1_HUMAN)

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

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:0005515 protein binding IPI 26275350
GO:0008327 methyl-CpG binding IBA --
genes like me logo Genes that share ontologies with MBD3L1: view
genes like me logo Genes that share phenotypes with MBD3L1: view

Animal Models for MBD3L1 Gene

MGI Knock Outs for MBD3L1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBD3L1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 4
plasma membrane 2
cytosol 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MBD3L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with MBD3L1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MBD3L1 Gene

Pathways & Interactions for MBD3L1 Gene

PathCards logo

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 by RNA polymerase II IBA --
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 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBD3L1

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

No ASD Table

Relevant External Links for MBD3L1 Gene

GeneLoc Exon Structure for
MBD3L1

Expression for MBD3L1 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 98.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MBD3L1 30 31
  • 78.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MBD3L1 30 31
  • 75.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mbd3l1 30
  • 73.93 (n)
Mouse
(Mus musculus)
Mammalia Mbd3l1 30 17 31
  • 73.74 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 32 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 28 (a)
OneToMany
Chicken
(Gallus gallus)
Aves MBD3 31
  • 38 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii mbd3b 31
  • 33 (a)
ManyToMany
mbd3a 31
  • 30 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta MBD-like 31
  • 14 (a)
OneToMany
Species where no ortholog for MBD3L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for MBD3L1: view image

Paralogs for MBD3L1 Gene

Paralogs for MBD3L1 Gene

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

  • MB3L1_HUMAN
genes like me logo Genes that share paralogs with MBD3L1: view

Variants for MBD3L1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MBD3L1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs2972588 - p.Arg190Cys

Additional dbSNP identifiers (rs#s) for MBD3L1 Gene

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

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

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)

Additional Variant Information 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

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 CL … Pfeifer GP (Genomics 2002) 2 3 4 23
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins. (PMID: 29533181) Campbell AE … Tapscott SJ (eLife 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for MBD3L1 Gene

Sources for MBD3L1 Gene