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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ACTMAP
actin maturation protease
Chromosome 19 Β· 19q13.2
NCBI Gene: 284325Ensembl: ENSG00000188493.16HGNC: HGNC:24758UniProt: Q5BKX5
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
initiator methionyl aminopeptidase activitycysteine-type aminopeptidase activityprotein processingcytoplasminflammatory bowel diseaseovarian dysfunctionmucocutaneous lymph node syndromeDistal myopathy, Nonaka type
✦AI Summary

Based on limited published evidence, ACTMAP (actin maturation protease) is a cysteine-type aminopeptidase that mediates post-translational maturation of actin. It specifically cleaves N-terminal acetylated methionine from immature cytoplasmic beta- and gamma-actins (ACTB, ACTG1) after translation 1, and cleaves N-terminal acetylated cysteine from muscle alpha-actins (ACTA1, ACTC1, ACTA2) following canonical N-terminal methionine removal. ACTMAP functions as a cysteine protease required for proper actin maturation, with recent studies identifying butynamide-based covalent inhibitors that selectively target its catalytic nucleophile 2.

Sources cited
1
ACTMAP cleaves N-terminal acetylated methionine from immature cytoplasmic beta- and gamma-actins after translation, contributing to actin maturation
PMID: 36173861
2
ACTMAP is a cysteine protease required for post-translational actin maturation; identified as a selective target of butynamide covalent probes with preferential engagement in cancer cells
PMID: 41757055
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
inflammatory bowel diseaseOpen Targets
0.12Weak
ovarian dysfunctionOpen Targets
0.07Suggestive
mucocutaneous lymph node syndromeOpen Targets
0.06Suggestive
Distal myopathy, Nonaka typeOpen Targets
0.06Suggestive
Congenital myasthenic syndromesOpen Targets
0.06Suggestive
myopathy, distal, 5Open Targets
0.06Suggestive
myofibrillar myopathy 3Open Targets
0.06Suggestive
Hereditary proximal myopathy with early respiratory failureOpen Targets
0.06Suggestive
tibial muscular dystrophyOpen Targets
0.06Suggestive
Distal myotilinopathyOpen Targets
0.05Suggestive
GNE myopathyOpen Targets
0.05Suggestive
Alpha-B crystallin-related late-onset distal myopathyOpen Targets
0.05Suggestive
myopathy, distal, 6, adult-onset, autosomal dominantOpen Targets
0.05Suggestive
myopathy, sarcoplasmic bodyOpen Targets
0.05Suggestive
polyglucosan body myopathy type 2Open Targets
0.05Suggestive
Autosomal dominant limb-girdle muscular dystrophy type 1DOpen Targets
0.05Suggestive
distal myopathy, Welander typeOpen Targets
0.05Suggestive
Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiencyOpen Targets
0.05Suggestive
distal myopathyOpen Targets
0.05Suggestive
tubular aggregate myopathyOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
SPCS2Shared pathway50%SEC11CShared pathway50%TMPRSS11FShared pathway50%PRSS41Shared pathway50%PRSS51Shared pathway50%TMPRSS7Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Lung
75%
Brain
45%
Heart
45%
Bone Marrow
42%
Ovary
29%
Gene Interaction Network
Click a node to explore
ACTMAPSPCS2SEC11CTMPRSS11FPRSS41PRSS51TMPRSS7
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q5BKX5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.59–1.12]
RankingsWhere ACTMAP stands among ~20K protein-coding genes
  • #15,784of 20,598
    Most Researched14
  • #11,478of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedACTMAP
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
A comprehensive GPS-based analysis of activity spaces in early and late pregnancy using the ActMAP framework.
PMID: 39824032
Health Place Β· 2025
1.00
2
A Global Ligandability Map of Tryptoline Butynamide Stereoprobes Identifies Covalent Inhibitors of the Actin Maturation Protease ACTMAP.
PMID: 41757055
bioRxiv Β· 2026
0.50