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Aliases for MBTD1 Gene

Aliases for MBTD1 Gene

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

External Ids for MBTD1 Gene

Summaries for MBTD1 Gene

GeneCards Summary for MBTD1 Gene

MBTD1 (Mbt Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is SCMH1.

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

Genomic Location for MBTD1 Gene

Start:
51,177,425 bp from pter
End:
51,260,427 bp from pter
Size:
83,003 bases
Orientation:
Minus strand

Genomic View for MBTD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MBTD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBTD1 Gene

Regulatory Elements 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 for MBTD1 Gene

Protein Domains for MBTD1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

MBTD1_HUMAN
Similarity:
  • Contains 1 FCS-type zinc finger.:
    • Q05BQ5
  • Contains 4 MBT repeats.:
    • Q05BQ5
genes like me logo Genes that share domains with MBTD1: view

No data available for Gene Families 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 --
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:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 4
cytosol 1
golgi apparatus 1

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 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:0006355 regulation of 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 for MBTD1 Gene

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

Integrated Proteomics: protein expression 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 expressions with MBTD1: view

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 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MBTD1 36
  • 95.28 (n)
  • 98.09 (a)
MBTD1 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MBTD1 36
  • 95.59 (n)
  • 98.88 (a)
MBTD1 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mbtd1 36
  • 92.94 (n)
  • 97.93 (a)
Mbtd1 16
Mbtd1 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MBTD1 37
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MBTD1 37
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mbtd1 36
  • 92.78 (n)
  • 97.13 (a)
chicken
(Gallus gallus)
Aves MBTD1 36
  • 84.93 (n)
  • 93.79 (a)
MBTD1 37
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MBTD1 37
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mbtd1 36
  • 80.36 (n)
  • 88.22 (a)
Str.1256 36
zebrafish
(Danio rerio)
Actinopterygii LOC568340 36
  • 72.91 (n)
  • 81.94 (a)
MBTD1 37
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010202 36
  • 53.52 (n)
  • 48.49 (a)
fruit fly
(Drosophila melanogaster)
Insecta Sfmbt 36
  • 55.61 (n)
  • 52.93 (a)
Sfmbt 37
  • 21 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8645 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs758771 -- 51,228,194(+) AGAGG(A/G)AACAG intron-variant
rs929482 -- 51,183,546(+) TGGTA(C/T)TGGTG intron-variant
rs1014147 -- 51,249,572(-) AGAAT(A/G)CAAGA intron-variant
rs1808277 -- 51,191,411(+) cgtgc(A/G)ccacc intron-variant
rs1860574 -- 51,221,933(+) AATCA(C/T)GGAAA intron-variant

Relevant External Links for MBTD1 Gene

HapMap Linkage Disequilibrium report
MBTD1

No data available for Structural Variations from Database of Genomic Variants (DGV) for MBTD1 Gene

Disorders for MBTD1 Gene

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.

No disorders were found 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
  2. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett E.J. … Harper J.W. (Cell 2010) 3
  3. 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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4

Products for MBTD1 Gene

Sources for MBTD1 Gene

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