10 sources retrieved · Most recent: April 2026 · Index updated 16 days ago
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20PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLETransporter
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
AP-type membrane coat adaptor complexmembraneendosomal transportlysosomeneurodegenerative diseaseplacenta praeviainjurythyroid cancer
AP5M1 (adaptor related protein complex 5 subunit mu 1) is a subunit of the AP-5 vesicular trafficking complex involved in endosomal transport and lysosomal homeostasis. As part of AP-5, AP5M1 localizes to late endosomes and the Golgi apparatus 1 and functions in intracellular cargo sorting and trafficking 2. The protein regulates yolk vesicle formation during oocyte maturation 3 and maintains proper cellular homeostasis through lysosomal pathways 1.
Beyond trafficking functions, AP5M1 exhibits pro-apoptotic activity independent of its structural role. The adaptin domain of AP5M1 mediates cell death, with caspase-3 cleaving AP5M1 during TRAIL-induced apoptosis 4. AP5M1 induces apoptosis in cervical cancer cells through BAX-dependent mitochondrial pathways, with strong positive correlation between AP5M1 and BAX expression in cervical tissues 5.
Clinically, bi-allelic loss-of-function variants in AP5M1 cause recessive inherited retinal disease characterized by macular degeneration 1. The retinal pigment epithelium's dependence on robust lysosomal and phagocytic activity explains its particular vulnerability to AP5M1 dysfunction. These findings establish AP-5 as essential for retinal homeostasis and identify AP5M1 as both a trafficking protein and a potential therapeutic target in cancer.
1
AP5M1 variants cause recessive inherited retinal disease with macular degeneration; AP5M1 is part of AP-5 complex involved in lysosomal pathways and localizes to late endosomes and Golgi in RPE cells
PMID: 400813742
AP5M1 (over easy gene) regulates intracellular trafficking and yolk vesicle formation during oocyte maturation
PMID: 390526723
AP-5 is an evolutionarily ancient complex involved in endosomal sorting and trafficking that does not associate with clathrin
PMID: 220222304
AP5M1 (MUDENG) is cleaved by caspase-3 at the adaptin domain during TRAIL-induced cell death, with cleaved MUDENG showing reduced killing activity
PMID: 236650155
AP5M1 induces apoptosis in cervical cancer cells through BAX-dependent pathway; AP5M1 expression is downregulated in cervical carcinoma with strong positive correlation with BAX expression
PMID: 31427081neurodegenerative diseaseOpen Targets
placenta praeviaOpen Targets
thyroid cancerOpen Targets
glioblastoma multiformeOpen Targets
systemic lupus erythematosusOpen Targets
cutaneous mastocytosisOpen Targets
brain neoplasmOpen Targets
ovarian dysfunctionOpen Targets
response to xenobiotic stimulusOpen Targets
Abruptio PlacentaeOpen Targets
cervical carcinomaOpen Targets
Duane retraction syndromeOpen Targets
NM_018229.4(AP5M1):c.97C>T (p.Arg33Ter)Likely pathogenic
Macular dystrophy with or without extraocular features
★☆☆☆2024→ Residue 33
NM_018229.4(AP5M1):c.1166G>A (p.Trp389Ter)Likely pathogenic
Macular dystrophy with or without extraocular features
★☆☆☆2024→ Residue 389
No tissue expression data available for this gene.