HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MAPDA
N6-Methyl-AMP deaminase
Chromosome 15 · 15q15.3
NCBI Gene: 161823Ensembl: ENSG00000168803.17HGNC: HGNC:31853UniProt: Q6DHV7
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
toxic metabolite repairN6-methyl-AMP deaminase activityinosine biosynthetic processadenosine deaminase activityadolescent idiopathic scoliosisThrombocytopeniaautosomal dominant macrothrombocytopeniamacrothrombocytopenia, isolated, 2, autosomal dominant
✦AI Summary

MAPDA (N6-methyl-AMP deaminase) is a cytosolic deaminase that catalyzes the detoxification of modified adenosines arising from RNA degradation. The enzyme acts downstream of adenosine kinase to hydrolyze N6-methylated adenosine nucleotides, including N6-methyl-AMP (m6AMP), N6,N6-dimethyl-AMP (m6,6AMP), and N6-isopentenyl-AMP (i6AMP), converting them to inosine monophosphate (IMP) 12. MAPDA exhibits broad substrate specificity, removing various alkyl groups from N6- and O6-substituted purine nucleoside monophosphates 3. Modified nucleosides derived from mRNA, rRNA, and tRNA degradation possess inherent cytotoxicity; MAPDA prevents their accumulation and metabolic dysfunction 1. The enzyme contains a catalytic zinc ion and plays a critical role in a multilayer molecular protection system that prevents erroneous incorporation of N6-methylated nucleotides into nascent RNA, since eukaryotic RNA polymerase can utilize N6-mATP as a substrate 2. Functionally, MAPDA mutations reduce enzyme activity and can confer resistance to nucleotide-based therapeutics by impairing their intracellular activation 4. The evolutionary distribution of MAPDA correlates with the prevalence of m6A-RNA methylation across eukaryotic organisms 2.

Sources cited
1
MAPDA catalyzes hydrolysis of m6A-modified adenosine nucleotides; modified nucleosides from RNA degradation are cytotoxic and must be cleared
PMID: 40840445
2
MAPDA converts N6-mAMP to IMP; phylogenetic distribution correlates with m6A methylation prevalence; part of multilayer protection against m6A misincorporation
PMID: 29884623
3
MAPDA/ADAL1 removes alkyl groups from N6- and O6-substituted purine nucleoside monophosphates; contains catalytic zinc ion
PMID: 21755941
4
MAPDA mutations impair enzymatic activity and confer resistance to nucleotide-based therapeutics by blocking their intracellular activation
PMID: 23645737
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
adolescent idiopathic scoliosisOpen Targets
0.08Suggestive
ThrombocytopeniaOpen Targets
0.06Suggestive
autosomal dominant macrothrombocytopeniaOpen Targets
0.05Suggestive
macrothrombocytopenia, isolated, 2, autosomal dominantOpen Targets
0.05Suggestive
thrombocytopenia 4Open Targets
0.05Suggestive
thrombocytopenia, anemia, and myelofibrosisOpen Targets
0.04Suggestive
congenital amegakaryocytic thrombocytopenia 1Open Targets
0.04Suggestive
thrombocytopenia 7Open Targets
0.04Suggestive
ghosal hematodiaphyseal dysplasiaOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.04Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.04Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.04Suggestive
platelet-type bleeding disorder 9Open Targets
0.04Suggestive
platelet-type bleeding disorder 15Open Targets
0.04Suggestive
X-linked sideroblastic anemia 1Open Targets
0.04Suggestive
autoimmune thrombocytopenic purpuraOpen Targets
0.04Suggestive
thrombocytopenia 2Open Targets
0.04Suggestive
monosomy 7 myelodysplasia and leukemia syndrome 1Open Targets
0.03Suggestive
bleeding disorder, platelet-type, 24Open Targets
0.03Suggestive
platelet-type von Willebrand diseaseOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CLYBLShared pathway50%ADKShared pathway33%PGPShared pathway33%AUHShared pathway33%SUCLG1Shared pathway25%SUCLA2Shared pathway17%
Tissue Expression6 tissues
Heart
100%
Brain
27%
Liver
23%
Bone Marrow
21%
Ovary
13%
Lung
11%
Gene Interaction Network
Click a node to explore
MAPDACLYBLADKPGPAUHSUCLG1SUCLA2
PROTEIN STRUCTURE
Preparing viewer…
PDB8QCH · 2.44 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.20LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.89 [0.66–1.20]
RankingsWhere MAPDA stands among ~20K protein-coding genes
  • #15,920of 20,598
    Most Researched14
  • #12,661of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedMAPDA
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Short-term clinical comparison of two dual-disinfection multipurpose disinfecting solutions.
PMID: 24296957
Eye Contact Lens · 2014
1.00
2
m
PMID: 29884623
Plant Cell · 2018
0.75
3
Adenosine deaminase-like protein 1 (ADAL1): characterization and substrate specificity in the hydrolysis of N(6)- or O(6)-substituted purine or 2-aminopurine nucleoside monophosphates.
PMID: 21755941
J Med Chem · 2011
0.50
4
Mutations in adenosine deaminase-like (ADAL) protein confer resistance to the antiproliferative agents N6-cyclopropyl-PMEDAP and GS-9219.
PMID: 23645737
Anticancer Res · 2013
0.25