Gene details
Basic gene annotations are collected from Uniprot and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser is available.
MBTD1 - mbt domain containing 1
Function
Chromatin reader component of the NuA4 histone acetyltransferase complex, a multiprotein complex involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A (PubMed:27153538, PubMed:32209463). The NuA4 complex plays a direct role in repair of DNA double-strand breaks (DSBs) by promoting homologous recombination (HR) (PubMed:27153538). MBTD1 specifically recognizes and binds monomethylated and dimethylated 'Lys-20' on histone H4 (H4K20me1 and H4K20me2, respectively) (PubMed:19841675, PubMed:27153538, PubMed:32209463). In the NuA4 complex, MBTD1 promotes recruitment of the complex to H4K20me marks by competing with TP53BP1 for binding to H4K20me (PubMed:27153538). Following recruitment to H4K20me at DNA breaks, the NuA4 complex catalyzes acetylation of 'Lys-15' on histone H2A (H2AK15), blocking the ubiquitination mark required for TP53BP1 localization at DNA breaks, thereby promoting homologous recombination (HR) (PubMed:27153538).
Uniprot Browser| Entrez ID | EnsEMBL ID | Preferred Name | Uniprot ID |
|---|---|---|---|
| 54799 | ENSG00000011258 | MBTD1 | Q05BQ5 |
Gene Regulons
A gene can be associated with multiple causal flows as a member of multiple regulons