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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DMAP1
DNA methyltransferase 1 associated protein 1
Chromosome 1 · 1p34.1
NCBI Gene: 55929Ensembl: ENSG00000178028.15HGNC: HGNC:18291UniProt: Q9NPF5
115PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of cell cycleprotein bindingRNA polymerase II-specific DNA-binding transcription factor bindingnegative regulation of transcription by RNA polymerase IIneurodegenerative diseaseSeizureIntellectual disabilityAbnormal facial shape
✦AI Summary

DMAP1 (DNA methyltransferase 1 associated protein 1) is a multifunctional chr1 regulator that modulates transcription through both repressive and activating mechanisms. DMAP1 functions as a component of the TIP60-p400 histone acetyltransferase complex, where it facilitates H4K16 acetylation and chr1 relaxation 1. The protein plays essential roles in DNA damage response by regulating ATM kinase activity - DMAP1 depletion impairs ATM activation following ionizing radiation, resulting in radiosensitivity and defective G2/M checkpoint function 1. Structurally, DMAP1 associates with EP400 through hydrophobic contacts within the ARP module of the TIP60 complex, creating a stable assembly that is flexibly tethered to other complex components 2. DMAP1 exhibits dual transcriptional roles: it can repress transcription by interacting with DAXX and DNMT1 to form repressive complexes 3, while simultaneously serving as a component of the transcriptionally activating NuA4/TIP60 complex. Recent studies demonstrate DMAP1's antiviral function, where it directly binds HIV-1 Tat protein and restricts viral transcription by blocking Tat-TAR RNA interactions 4. Additionally, DMAP1 interacts with RGS6, modulating its transcriptional repressor activity 5. The protein's diverse interactions position it as a critical regulator of chr1 dynamics, DNA repair, and transcriptional control.

Sources cited
1
DMAP1 is required for ATM activation and DNA damage response, and is a component of the TIP60 complex that facilitates H4K16 acetylation
PMID: 23318425
2
DMAP1 makes hydrophobic contacts with EP400 in the ARP module of the human TIP60 complex structure
PMID: 39154037
3
DMAP1 interacts with DAXX and DNMT1 to form repressive transcription complexes and enhances DAXX-mediated transcriptional repression
PMID: 14978102
4
DMAP1 directly binds HIV-1 Tat protein and restricts viral transcription by blocking Tat-TAR RNA interactions
PMID: 41414674
5
DMAP1 interacts with RGS6 and its transcriptional repressor activity is inhibited by RGS6
PMID: 14734556
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
Abnormal facial shapeOpen Targets
0.30Weak
Intellectual disabilityOpen Targets
0.30Weak
SeizureOpen Targets
0.30Weak
uterine benign neoplasmOpen Targets
0.12Weak
uterine neoplasmOpen Targets
0.12Weak
Generalized hypotoniaOpen Targets
0.11Weak
Profound global developmental delayOpen Targets
0.11Weak
AnxietyOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
pancreatic neoplasmOpen Targets
0.04Suggestive
cancerOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.03Suggestive
osteomyelitisOpen Targets
0.02Suggestive
bone diseaseOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
Nijmegen breakage syndromeOpen Targets
0.01Suggestive
carcinomaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
Pathogenic Variants1
NM_019100.5(DMAP1):c.1024del (p.Glu342fs)Likely pathogenic
Intellectual disability;Abnormal facial shape;Seizure
★☆☆☆2021→ Residue 342
View on ClinVar ↗
Related Genes
TRRAPProtein interaction100%PLAC1Protein interaction100%KANSL2Protein interaction100%KANSL3Protein interaction100%YEATS2Protein interaction100%ACTBL2Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
98%
Liver
85%
Lung
60%
Heart
57%
Brain
42%
Gene Interaction Network
Click a node to explore
DMAP1TRRAPPLAC1KANSL2KANSL3YEATS2ACTBL2
PROTEIN STRUCTURE
Preparing viewer…
PDB4IEJ · 1.45 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.50 [0.36–0.69]
RankingsWhere DMAP1 stands among ~20K protein-coding genes
  • #4,112of 20,598
    Most Researched115 · top quartile
  • #4,846of 5,498
    Most Pathogenic Variants1
  • #5,215of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedDMAP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CDK4/6 inhibition triggers anti-tumour immunity.
PMID: 28813415
Nature · 2017
1.00
2
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
0.90
3
Structure of the human TIP60 complex.
PMID: 39154037
Nat Commun · 2024
0.80
4
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
PMID: 38421105
Am J Med Genet A · 2024
0.70
5
RGS6 interacts with DMAP1 and DNMT1 and inhibits DMAP1 transcriptional repressor activity.
PMID: 14734556
J Biol Chem · 2004
0.60