Aliases for MBTD1 Gene

Aliases for MBTD1 Gene

  • Mbt Domain Containing 1 2 3 5
  • MBT Domain-Containing Protein 1 3 4
  • 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 N Syndrome and Endometrial Stromal Sarcoma. Among its related pathways are Mesodermal Commitment Pathway. An important paralog of this gene is L3MBTL2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for MBTD1 Gene

Genomics for MBTD1 Gene

GeneHancer (GH) Regulatory Elements for MBTD1 Gene

Promoters and enhancers for MBTD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MBTD1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MBTD1

Top Transcription factor binding sites by QIAGEN in the MBTD1 gene promoter:
  • FOXC1
  • NRF-2
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • RORalpha2

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)
Size:
82,739 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.
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    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:
  • MBT domain-containing protein 1 (MBTD1_HUMAN)
genes like me logo Genes that share domains with MBTD1: view

No data available for Graphical View of Domain Structure and 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:0005515 protein binding IPI 27153538
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:
  • Mbtd1 Mbtd1<tm2a(EUCOMM)Wtsi>
  • Mbtd1 Mbtd1<tm1Homy>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (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

PathCards logo

SuperPathways 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:0006325 chromatin organization IEA --
GO:0006355 regulation of transcription, DNA-templated 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

mRNA/cDNA for MBTD1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
7 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 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

Expression for MBTD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for MBTD1 Gene



Protein tissue co-expression partners for MBTD1 Gene

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

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 31
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MBTD1 31 30
  • 95.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MBTD1 31 30
  • 95.28 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mbtd1 17 31 30
  • 92.94 (n)
rat
(Rattus norvegicus)
Mammalia Mbtd1 30
  • 92.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MBTD1 31
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MBTD1 31
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves MBTD1 31 30
  • 84.93 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MBTD1 31
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mbtd1 30
  • 80.36 (n)
Str.1256 30
zebrafish
(Danio rerio)
Actinopterygii LOC568340 30
  • 72.91 (n)
MBTD1 31
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sfmbt 31 30
  • 55.61 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010202 30
  • 53.52 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 57 (a)
OneToMany
Cin.8645 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8645 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for MBTD1: view image

Paralogs for MBTD1 Gene

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

  • MBTD1_HUMAN
  • K7EQ11_HUMAN
  • L8E9Z6_HUMAN

Pseudogenes.org Pseudogenes for MBTD1 Gene

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

Variants for MBTD1 Gene

Additional dbSNP identifiers (rs#s) for MBTD1 Gene

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 and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MBTD1 Gene

Disorders for MBTD1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
n syndrome
  • nsx
endometrial stromal sarcoma
  • endometrial stromal sarcoma, high grade
myxoid leiomyosarcoma
  • leiomyosarcoma, myxoid
endometrial stromal nodule
endometrial stromal tumor
  • endometrial stromal neoplasm
- 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 54
  2. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 54
  3. MYC Protein Interactome Profiling Reveals Functionally Distinct Regions that Cooperate to Drive Tumorigenesis. (PMID: 30415952) Kalkat M … Penn LZ (Molecular cell 2018) 3 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. Merkel cell polyomavirus recruits MYCL to the EP400 complex to promote oncogenesis. (PMID: 29028833) Cheng J … DeCaprio JA (PLoS pathogens 2017) 3 54

Products for MBTD1 Gene

Sources for MBTD1 Gene