Version 5.4
Homo sapiens Protein: MBTD1
Summary
InnateDB Protein IDBP-381939.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MBTD1
Protein Name mbt domain containing 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000403946
InnateDB Gene IDBG-59768 (MBTD1)
Protein Structure
UniProt Annotation
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. {ECO:0000250, ECO:0000269PubMed:19841675}.
Subcellular Localization Nucleus {ECO:0000305}.
Disease Associations Note=A chromosomal aberration involving MBTD1 is a cause of acute poorly differentiated myeloid leukemia. Translocation (10;17)(p15;q21) with ZMYND11.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0008270 zinc ion binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0016568 chromatin modification
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro IPR004092 Mbt repeat
IPR012313 Zinc finger, FCS-type
PFAM PF02820
PRINTS
PIRSF
SMART SM00561
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q05BQ5
PhosphoSite PhosphoSite-Q05BQ5
TrEMBL
UniProt Splice Variant
Entrez Gene 54799
UniGene Hs.703374
RefSeq
HUGO HGNC:19866
OMIM
CCDS CCDS11581
HPRD 14369
IMGT
EMBL AC005839 AC006141 AK000062 AK124061 BC034364 BC101736 CH471109
GenPept AAH34364 AAI01737 BAA90919 BAC85763 EAW94562

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca