DMAP1 Chromosome 1
DNA methyltransferase 1 associated protein 1
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What This Gene Does
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]
Gene Info
Gene Group
"Myb/SANT domain containing|SRCAP complex subunits|Tip60/Nua4 histone acetyltransferase complex subunits"
Locus Type
gene with protein product
Location
1p34.1
Ensembl
ENSG00000178028
Associated Conditions (3)
Intellectual disability
Abnormal facial shape
Seizure
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS750381568 | Health Risk | Likely pathogenic | Intellectual disability, Abnormal facial shape, Seizure |