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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. 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.

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

Regulatory Elements for MBTD1 Gene

Enhancers for MBTD1 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
GH17G051237 1.1 Ensembl ENCODE 12 +22.0 22029 1.2 HDGF FOXA2 SIN3A ARID4B RAD21 ZNF335 ZNF143 FOS ETV6 DEK UTP18 NME1 MBTD1 ENSG00000264895 ENSG00000279089
GH17G051214 0.6 ENCODE 12 +45.4 45426 1.1 MAFF ZNF316 GATA2 CREB1 MAFG EMSY MAFK NME1 UTP18 MBTD1 ENSG00000279089 ENSG00000264895
GH17G051257 1.2 ENCODE 0.7 +0.6 645 5.2 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 UTP18 NME1 MBTD1 ENSG00000264895
GH17G051247 0.3 FANTOM5 1.7 +13.1 13135 0.2 UTP18 MBTD1 ENSG00000264895 ENSG00000279089
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MBTD1 on UCSC Golden Path with GeneCards custom track

Promoters for MBTD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000095806 93 3201 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21

Genomic Location for MBTD1 Gene

Chromosome:
17
Start:
51,177,419 bp from pter
End:
51,260,493 bp from pter
Size:
83,075 bases
Orientation:
Minus strand

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

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.

Gene Ontology (GO) - Molecular Function for MBTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IEA --
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

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

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

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 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MBTD1 34 35
  • 95.59 (n)
cow
(Bos Taurus)
Mammalia MBTD1 34 35
  • 95.28 (n)
mouse
(Mus musculus)
Mammalia Mbtd1 34 16 35
  • 92.94 (n)
rat
(Rattus norvegicus)
Mammalia Mbtd1 34
  • 92.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MBTD1 35
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MBTD1 35
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves MBTD1 34 35
  • 84.93 (n)
lizard
(Anolis carolinensis)
Reptilia MBTD1 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mbtd1 34
  • 80.36 (n)
Str.1256 34
zebrafish
(Danio rerio)
Actinopterygii LOC568340 34
  • 72.91 (n)
MBTD1 35
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sfmbt 34 35
  • 55.61 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010202 34
  • 53.52 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 57 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8645 34
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 Sequence Context AA Info Type
rs1000009118 -- 51,237,454(+) TTGTA(A/T)CTAGA intron-variant
rs1000021075 -- 51,199,683(+) ATTCG(-/C)CCCCC intron-variant
rs1000060508 -- 51,188,657(+) TAATA(C/G)AAAAA intron-variant
rs1000107154 -- 51,237,104(+) CCAGT(C/T)TGGCC intron-variant
rs1000115295 -- 51,222,980(+) CAATT(G/T)TTTTT 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)

Relevant External Links for MBTD1 Gene

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

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

Disorders for MBTD1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
endometrial stromal sarcoma
  • endometrial stromal sarcoma, high grade
- 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}.

Relevant External Links for MBTD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 64
  2. Recurrent translocation t(10;17)(p15;q21) in minimally differentiated acute myeloid leukemia results in ZMYND11/MBTD1 fusion. (PMID: 26608508) de Rooij J.D. … Zwaan C.M. (Genes Chromosomes Cancer 2016) 3 64
  3. The TIP60 Complex Regulates Bivalent Chromatin Recognition by 53BP1 through Direct H4K20me Binding and H2AK15 Acetylation. (PMID: 27153538) Jacquet K. … CA'tAc J. (Mol. Cell 2016) 3 64
  4. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for MBTD1 Gene

  • Addgene plasmids for MBTD1

Sources for MBTD1 Gene

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