DMAP1: DNA Methyltransferase 1 Associated Protein 1
A chromatin-modifying enzyme involved in transcriptional repression and DNA damage response.
Gene Information Card
| Symbol | DMAP1 |
|---|---|
| Full Name | DNA Methyltransferase 1 Associated Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.1 |
| NCBI Gene ID | 55929 ncbi.nlm.nih.gov/gene/55929 |
| Ensembl ID | ENSG00000116285 |
| UniProt ID | Q9NPF5 |
| OMIM ID | 605077 |
| HGNC ID | 29146 |
| Aliases | DNMAP1, DNMTAP1, EAF2, FLJ11506 |
Description
DMAP1 (DNA Methyltransferase 1 Associated Protein 1) encodes a protein that interacts with DNA methyltransferase 1 (DNMT1) and is involved in transcriptional repression, chromatin remodeling, and DNA damage response. The protein is a component of several histone deacetylase complexes and plays a role in maintaining genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | DMAP1 overexpression or mutation may alter chromatin silencing and promote tumorigenesis via DNMT1 interaction. | COSMIC; PMID: 14525967 |
| Intellectual disability | DMAP1 variants have been associated with neurodevelopmental phenotypes, possibly through disrupted chromatin regulation. | ClinVar; PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain (cortex) | 8.9 | Medium |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| HeLa | 12.1 | High expression |
| K562 | 9.8 | Medium expression |
| MCF7 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; effect unknown |
| c.374C>T (p.Thr125Met) | missense | <0.01% | ClinVar uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in DMAP1 may impair DNMT1-mediated silencing and DNA repair, potentially contributing to genomic instability.
Gain of Function (GOF)
Gain-of-function has not been clearly documented; overexpression in some cancers may enhance repressive chromatin marks.
Dominant Negative (DN)
Dominant-negative effects are not well characterized; possible through disruption of DNMT1 complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • transcription corepressor activity | • chromatin binding |
| • histone deacetylase binding | • DNA damage response |
| • negative regulation of transcription by RNA polymerase II |
Pathways
• DNMT1-mediated transcriptional repression
• Histone deacetylase complex (NuRD)
Protein Summary
DMAP1 is a 467-amino acid protein that contains a SANT domain and interacts with DNMT1, HDAC2, and other chromatin modifiers. It localizes to the nucleus and is involved in transcriptional repression, cell cycle regulation, and the DNA damage response. The protein is ubiquitously expressed with highest levels in testis and lymphoid tissues.
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