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Aliases for MBTD1 Gene

Aliases for MBTD1 Gene

  • Mbt Domain Containing 1 2 3 5
  • 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. An important paralog of this gene is L3MBTL1.

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 , 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around MBTD1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for MBTD1 Gene at MOPED

Post-translational modifications for MBTD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MBTD1 Gene

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

Q05BQ5

UniProtKB/Swiss-Prot:

MBTD1_HUMAN :
  • Contains 1 FCS-type zinc finger.
Similarity:
  • Contains 1 FCS-type zinc finger.
  • Contains 4 MBT repeats.
genes like me logo Genes that share domains with MBTD1: view

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.
genes like me logo Genes that share phenotypes with MBTD1: view

Animal Models for MBTD1 Gene

MGI Knock Outs for MBTD1:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for MBTD1 Gene COMPARTMENTS Subcellular localization image for MBTD1 gene
Compartment Confidence
nucleus 5
cytosol 3

No data available for Gene Ontology (GO) - Cellular Components for MBTD1 Gene

Pathways & Interactions for MBTD1 Gene

SuperPathways for MBTD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MBTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0016568 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 Pathways by source and 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:

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 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, MOPED, and MaxQB for MBTD1 Gene



SOURCE GeneReport for Unigene cluster for MBTD1 Gene Hs.656803

genes like me logo Genes that share expression patterns with MBTD1: view

Protein tissue co-expression partners for MBTD1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia MBTD1 35
  • 95.28 (n)
  • 98.09 (a)
MBTD1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MBTD1 35
  • 95.59 (n)
  • 98.88 (a)
MBTD1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mbtd1 35
  • 92.94 (n)
  • 97.93 (a)
Mbtd1 16
Mbtd1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mbtd1 35
  • 92.78 (n)
  • 97.13 (a)
oppossum
(Monodelphis domestica)
Mammalia MBTD1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MBTD1 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MBTD1 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves MBTD1 35
  • 84.93 (n)
  • 93.79 (a)
MBTD1 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MBTD1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mbtd1 35
  • 80.36 (n)
  • 88.22 (a)
Str.1256 35
zebrafish
(Danio rerio)
Actinopterygii LOC568340 35
  • 72.91 (n)
  • 81.94 (a)
MBTD1 36
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010202 35
  • 53.52 (n)
  • 48.49 (a)
fruit fly
(Drosophila melanogaster)
Insecta Sfmbt 35
  • 55.61 (n)
  • 52.93 (a)
Sfmbt 36
  • 21 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8645 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToMany
Species with no ortholog for MBTD1:
  • 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
rs929482 -- 51,183,546(+) TGGTA(C/T)TGGTG intron-variant
rs1014147 -- 51,249,572(-) AGAAT(A/G)CAAGA intron-variant, upstream-variant-2KB
rs758771 -- 51,228,194(+) AGAGG(A/G)AACAG intron-variant
rs1808277 -- 51,191,411(+) cgtgc(A/G)ccacc intron-variant
rs1860574 -- 51,221,933(+) AATCA(C/T)GGAAA intron-variant, upstream-variant-2KB

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

HapMap Linkage Disequilibrium report
MBTD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) 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 67
  2. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. Identification of a novel, recurrent MBTD1-CXorf67 fusion in low-grade endometrial stromal sarcoma. (PMID: 23959973) Dewaele B. … Debiec-Rychter M. (Int. J. Cancer 2014) 3

Products for MBTD1 Gene

Sources for MBTD1 Gene

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