MBTD1
entrez
54799
canonical
uniprot
Q05BQ5
canonical
ensembl
ENSG00000011258
resolver
ensp
ENSP00000468304
resolver
ensp
ENSP00000602395
resolver
ensp
ENSP00000602402
resolver
genesymbol
MBTD1
resolver
hgnc
HGNC:19866
resolver
uniprot
Q6ZVU7
resolver
uniprot
Q9NXU1
resolver
uniprot_entry
MBTD1_HUMAN
resolver
uniprot_sec
Q6ZVU7
resolver
uniprot_sec
Q9NXU1
resolver
amino_acid_sequence
MFDGYDSCSEDTSSSSSSEESEEEVAPLPSNLPIIKNNGQVYTYPDGKSGMATCEMCGMVGVRDAFYSKTKRFCSVSCSRSYSSNSKKASILARLQGKPPTKKAKVLQKQPLVAKLAAYAQYQATLQNQAKTKAAVSMEGFSWGNYINSNSFIAAPVTCFKHAPMGTCWGDISENVRVEVPNTDCSLPTKVFWIAGIVKLAGYNALLRYEGFENDSGLDFWCNICGSDIHPVGWCAASGKPLVPPRTIQHKYTNWKAFLVKRLTGAKTLPPDFSQKVSESMQYPFKPCMRVEVVDKRHLCRTRVAVVESVIGGRLRLVYEESEDRTDDFWCHMHSPLIHHIGWSRSIGHRFKRSDITKKQDGHFDTPPHLFAKVKEVDQSGEWFKEGMKLEAIDPLNLSTICVATIRKVLADGFLMIGIDGSEAADGSDWFCYHATSPSIFPVGFCEINMIELTPPRGYTKLPFKWFDYLRETGSIAAPVKLFNKDVPNHGFRVGMKLEAVDLMEPRLICVATVTRIIHRLLRIHFDGWEEEYDQWVDCESPDLYPVGWCQLTGYQLQPPASQSSRENQSASSKQKKKAKSQQYKGHKKMTTLQLKEELLDGEDYNFLQGASDQESNGSANFYIKQEP
uniprot
proteins
disease_involvement
DISEASE: 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}.
uniprot
proteins
function
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). {ECO:0000269|PubMed:19841675, ECO:0000269|PubMed:27153538, ECO:0000269|PubMed:32209463}.
uniprot
proteins
mass_dalton
70547
uniprot
proteins
mutagenesis
MUTAGEN 236; /note="A->D: Impaired interaction with EPC1; when associated with 259-D--D-263."; /evidence="ECO:0000269|PubMed:32209463"; MUTAGEN 236; /note="A->G: Impaired interaction with EPC1. Abolished interaction with EPC1; when associated with 259-G--G-263."; /evidence="ECO:0000269|PubMed:32209463"; MUTAGEN 259..263; /note="LVKRL->DVKRD: Impaired interaction with EPC1; when associated with D-236."; /evidence="ECO:0000269|PubMed:32209463"; MUTAGEN 259..263; /note="LVKRL->GVKRG: Impaired interaction with EPC1. Abolished interaction with EPC1; when associated with G-236."; /evidence="ECO:0000269|PubMed:32209463
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
19841675
uniprot
proteins
pubmed
23915195
uniprot
proteins
pubmed
27153538
uniprot
proteins
pubmed
32209463
uniprot
proteins
sequence_length
628
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:27153538}. Chromosome {ECO:0000269|PubMed:27153538}.
uniprot
proteins