DMAP1

Chr 1

DNA methyltransferase 1 associated protein 1

Also known as: DNMAP1, DNMTAP1, EAF2, MEAF2, SWC4

NCBI Gene: 55929 ENSG00000178028 UniProt: Q9NPF5

The protein functions as a transcriptional regulator that both represses and activates gene expression through interactions with histone-modifying complexes, including histone deacetylases and the NuA4 histone acetyltransferase complex. DMAP1 mutations cause autosomal recessive intellectual disability with variable additional features including microcephaly and seizures. The gene shows moderate constraint against loss-of-function variants, suggesting some intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to replication foci throughout S phase by interacting directly with the N-terminus of DNA methyltransferase 1. During late S phase, histone deacetylase 2 is added to this complex, providing a means to deacetylate histones in transcriptionally inactive heterochromatin following replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility gene 101 and the pro-apoptotic death-associated protein 6, among others. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.55

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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