MBTD1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0006325Biological processchromatin organization
GO_0000724Biological processdouble-strand break repair via homologous recombination
GO_1905168Biological processpositive regulation of double-strand break repair via homologous recombination
GO_0042981Biological processregulation of apoptotic process
GO_0045893Biological processpositive regulation of DNA-templated transcription
GO_0048706Biological processembryonic skeletal system development
GO_2000779Biological processregulation of double-strand break repair
GO_0045892Biological processnegative regulation of DNA-templated transcription
GO_0051726Biological processregulation of cell cycle
GO_0035267Cellular componentNuA4 histone acetyltransferase complex
GO_0000786Cellular componentnucleosome
GO_0035861Cellular componentsite of double-strand break
GO_0005634Cellular componentnucleus
GO_0035064Molecular functionmethylated histone binding
GO_0062060Molecular functionNuA4 histone acetyltransferase complex binding
GO_0005515Molecular functionprotein binding
GO_0003682Molecular functionchromatin binding
GO_0008270Molecular functionzinc ion binding

IV. Literature review

[source]
Gene nameMBTD1
Protein nameMbt domain containing 1
Alternative protein MBTD1
MBT domain-containing protein 1
Synonyms
DescriptionFUNCTION: 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 . The NuA4 complex plays a direct role in repair of DNA double-strand breaks (DSBs) by promoting homologous recombination (HR) . MBTD1 specifically recognizes and binds monomethylated and dimethylated 'Lys-20' on histone H4 (H4K20me1 and H4K20me2, respectively) . In the NuA4 complex, MBTD1 promotes recruitment of the complex to H4K20me marks by competing with TP53BP1 for binding to H4K20me . 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) . .

AccessionsENST00000376381.3 [Q05BQ5-3]
ENST00000415868.5 [Q05BQ5-1]
Q05BQ5
ENST00000586898.1
K7EQ11
ENST00000586178.6 [Q05BQ5-1]
ENST00000405860.7 [Q05BQ5-2]
L8E9Z6