Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MBTD1 Gene

Aliases for MBTD1 Gene

  • Mbt Domain Containing 1 2 3 5
  • MBT Domain-Containing Protein 1 3
  • SA49P01 3

External Ids for MBTD1 Gene

Previous GeneCards Identifiers for MBTD1 Gene

  • GC17M051750
  • GC17M049611
  • GC17M049743
  • GC17M046623
  • GC17M049254
  • GC17M044625

Summaries for MBTD1 Gene

GeneCards Summary for MBTD1 Gene

MBTD1 (Mbt Domain Containing 1) is a Protein Coding gene. Diseases associated with MBTD1 include Endometrial Stromal Sarcoma and Endometrial Stromal Nodule. Among its related pathways are Mesodermal Commitment Pathway. An important paralog of this gene is L3MBTL2.

UniProtKB/Swiss-Prot for MBTD1 Gene

  • Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility (By similarity). Specifically binds to monomethylated and dimethylated Lys-20 on histone H4.

Additional gene information for MBTD1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MBTD1 Gene

Genomics for MBTD1 Gene

GeneHancer (GH) Regulatory Elements for MBTD1 Gene

Promoters and enhancers for MBTD1 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
GH17I051257 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 578.2 +0.6 645 5.2 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 UTP18 MBTD1 GC17M051260 NME1 XYLT2 ENSG00000264895
GH17I051152 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 97.9 +106.8 106814 2.9 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 NME1 NME1-NME2 MBTD1 LUC7L3 UTP18 COL1A1 EME1 NME2 LOC105371824 CACNA1G-AS1
GH17I050860 Promoter/Enhancer 2.7 UCNEbase EPDnew Ensembl ENCODE dbSUPER 42.9 +395.4 395350 8.5 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 TOB1-AS1 TOB1 MBTD1 LUC7L3 ENSG00000247011 ENSG00000251665 WFIKKN2 COL1A1 RPL5P33
GH17I050395 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 45.1 +863.7 863683 2.7 CLOCK MLX DMAP1 IRF4 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ENSG00000253102 LRRC59 ENSG00000262837 MBTD1 LOC105371824 LUC7L3 CACNA1G-AS1 UTP18 FLJ45513 FAM117A
GH17I050262 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 30.7 +991.3 991313 13.4 HDGF PKNOX1 SIN3A ZBTB7B ZNF143 ZNF263 MCM3 SP3 MXD4 REST TMEM92 LUC7L3 MBTD1 ENSG00000262837 COL1A1 LOC105371824 MYCBPAP SPATA20 FAM117A FLJ45513
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MBTD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MBTD1 gene promoter:

Genomic Locations for MBTD1 Gene

Genomic Locations for MBTD1 Gene
chr17:51,177,419-51,260,493
(GRCh38/hg38)
Size:
83,075 bases
Orientation:
Minus strand
chr17:49,254,786-49,337,524
(GRCh37/hg19)

Genomic View for MBTD1 Gene

Genes around MBTD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBTD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MBTD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBTD1 Gene

Proteins for MBTD1 Gene

  • Protein details for MBTD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05BQ5-MBTD1_HUMAN
    Recommended name:
    MBT domain-containing protein 1
    Protein Accession:
    Q05BQ5
    Secondary Accessions:
    • Q6ZVU7
    • Q9NXU1

    Protein attributes for MBTD1 Gene

    Size:
    628 amino acids
    Molecular mass:
    70547 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=BAC85763.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MBTD1 Gene

    Alternative splice isoforms for MBTD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MBTD1 Gene

Post-translational modifications for MBTD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MBTD1 Gene

Domains & Families for MBTD1 Gene

Gene Families for MBTD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MBTD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MBTD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MBTD1: view

No data available for UniProtKB/Swiss-Prot for MBTD1 Gene

Function for MBTD1 Gene

Molecular function for MBTD1 Gene

UniProtKB/Swiss-Prot Function:
Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility (By similarity). Specifically binds to monomethylated and dimethylated Lys-20 on histone H4.

Phenotypes From GWAS Catalog for MBTD1 Gene

Gene Ontology (GO) - Molecular Function for MBTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IEA --
GO:0035064 methylated histone binding IMP 19841675
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MBTD1: view
genes like me logo Genes that share phenotypes with MBTD1: view

Animal Models for MBTD1 Gene

MGI Knock Outs for MBTD1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MBTD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MBTD1 Gene

Localization for MBTD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBTD1 Gene

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 MBTD1 gene
Compartment Confidence
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MBTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with MBTD1: view

Pathways & Interactions for MBTD1 Gene

genes like me logo Genes that share pathways with MBTD1: view

Pathways by source for MBTD1 Gene

2 BioSystems pathways for MBTD1 Gene

Gene Ontology (GO) - Biological Process for MBTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0016569 covalent chromatin modification IEA --
GO:0048706 embryonic skeletal system development IEA --
genes like me logo Genes that share ontologies with MBTD1: view

No data available for SIGNOR curated interactions for MBTD1 Gene

Drugs & Compounds for MBTD1 Gene

No Compound Related Data Available

Transcripts for MBTD1 Gene

Unigene Clusters for MBTD1 Gene

Mbt domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MBTD1

Alternative Splicing Database (ASD) splice patterns (SP) for MBTD1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - -
SP2:

Relevant External Links for MBTD1 Gene

GeneLoc Exon Structure for
MBTD1
ECgene alternative splicing isoforms for
MBTD1

Expression for MBTD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MBTD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MBTD1 Gene

This gene is overexpressed in Adipocyte (29.5), Gallbladder (16.6), Testis (16.3), and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MBTD1 Gene



Protein tissue co-expression partners for MBTD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MBTD1 Gene:

MBTD1

SOURCE GeneReport for Unigene cluster for MBTD1 Gene:

Hs.656803

Evidence on tissue expression from TISSUES for MBTD1 Gene

  • Eye(4.1)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with MBTD1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MBTD1 Gene

Orthologs for MBTD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MBTD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MBTD1 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MBTD1 33 34
  • 95.59 (n)
cow
(Bos Taurus)
Mammalia MBTD1 33 34
  • 95.28 (n)
mouse
(Mus musculus)
Mammalia Mbtd1 33 16 34
  • 92.94 (n)
rat
(Rattus norvegicus)
Mammalia Mbtd1 33
  • 92.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MBTD1 34
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MBTD1 34
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves MBTD1 33 34
  • 84.93 (n)
lizard
(Anolis carolinensis)
Reptilia MBTD1 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mbtd1 33
  • 80.36 (n)
Str.1256 33
zebrafish
(Danio rerio)
Actinopterygii LOC568340 33
  • 72.91 (n)
MBTD1 34
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sfmbt 33 34
  • 55.61 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010202 33
  • 53.52 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 57 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8645 33
Species where no ortholog for MBTD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MBTD1 Gene

ENSEMBL:
Gene Tree for MBTD1 (if available)
TreeFam:
Gene Tree for MBTD1 (if available)

Paralogs for MBTD1 Gene

Paralogs for MBTD1 Gene

(3) SIMAP similar genes for MBTD1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for MBTD1 Gene

genes like me logo Genes that share paralogs with MBTD1: view

Variants for MBTD1 Gene

Sequence variations from dbSNP and Humsavar for MBTD1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000009118 -- 51,237,454(-) T/A genic_upstream_transcript_variant, intron_variant
rs1000021075 -- 51,199,684(-) CCCCCC/CCCCCCC intron_variant
rs1000060508 -- 51,188,657(-) G/C genic_downstream_transcript_variant, intron_variant
rs1000107154 -- 51,237,104(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000115295 -- 51,222,980(-) T/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MBTD1 Gene

Variant ID Type Subtype PubMed ID
dgv1482n106 CNV deletion 24896259
esv3554539 CNV deletion 23714750
esv3582813 CNV loss 25503493

Variation tolerance for MBTD1 Gene

Residual Variation Intolerance Score: 41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.38; 8.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MBTD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBTD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBTD1 Gene

Disorders for MBTD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MBTD1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
endometrial stromal sarcoma
  • endometrial stromal sarcoma, high grade
endometrial stromal nodule
- elite association - COSMIC cancer census association via MalaCards
Search MBTD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MBTD1_HUMAN
  • Note=A chromosomal aberration involving MBTD1 is a cause of acute poorly differentiated myeloid leukemia. Translocation (10;17)(p15;q21) with ZMYND11. {ECO:0000269 PubMed:23915195}.

Additional Disease Information for MBTD1

genes like me logo Genes that share disorders with MBTD1: view

No data available for Genatlas for MBTD1 Gene

Publications for MBTD1 Gene

  1. Structural studies of a four-MBT repeat protein MBTD1. (PMID: 19841675) Eryilmaz J … Min J (PloS one 2009) 3 4 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. Recurrent translocation t(10;17)(p15;q21) in minimally differentiated acute myeloid leukemia results in ZMYND11/MBTD1 fusion. (PMID: 26608508) de Rooij JD … Zwaan CM (Genes, chromosomes & cancer 2016) 3 58
  4. The TIP60 Complex Regulates Bivalent Chromatin Recognition by 53BP1 through Direct H4K20me Binding and H2AK15 Acetylation. (PMID: 27153538) Jacquet K … Côté J (Molecular cell 2016) 3 58
  5. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X … Chen J (Molecular systems biology 2015) 3 58

Products for MBTD1 Gene

  • Addgene plasmids for MBTD1

Sources for MBTD1 Gene

Content
Loading form....