Gene description for ACTN3
Gene name actinin, alpha 3 (gene/pseudogene)
Gene symbol ACTN3
Other names/aliases -
Species Homo sapiens
 Database cross references - ACTN3
ExoCarta ExoCarta_89
Vesiclepedia VP_89
Entrez Gene 89
HGNC 165
MIM 102574
UniProt Q08043  
 ACTN3 identified in sEVs derived from the following tissue/cell type
Mesenchymal stem cells Unpublished / Not applicable
Neuroblastoma cells 25944692    
Retinal pigment epithelial cells 35333565    
Retinal pigment epithelial cells 35333565    
Squamous carcinoma cells 20124223    
 Gene ontology annotations for ACTN3
Molecular Function
    integrin binding GO:0005178 TAS
    calcium ion binding GO:0005509 IEA
    protein binding GO:0005515 IPI
    structural constituent of muscle GO:0008307 TAS
    identical protein binding GO:0042802 IPI
    transmembrane transporter binding GO:0044325 IPI
    actin filament binding GO:0051015 IBA
Biological Process
    regulation of the force of skeletal muscle contraction GO:0014728 ISS
    skeletal muscle atrophy GO:0014732 ISS
    transition between fast and slow fiber GO:0014883 ISS
    response to denervation involved in regulation of muscle adaptation GO:0014894 ISS
    actin cytoskeleton organization GO:0030036 IBA
    positive regulation of fast-twitch skeletal muscle fiber contraction GO:0031448 IEA
    regulation of apoptotic process GO:0042981 NAS
    negative regulation of glycolytic process GO:0045820 ISS
    focal adhesion assembly GO:0048041 IMP
    positive regulation of skeletal muscle tissue growth GO:0048633 ISS
    positive regulation of skeletal muscle fiber development GO:0048743 IEA
    muscle cell development GO:0055001 IBA
    bone morphogenesis GO:0060349 IEA
    negative regulation of calcineurin-NFAT signaling cascade GO:0070885 ISS
    negative regulation of oxidative phosphorylation GO:0090324 ISS
    negative regulation of cold-induced thermogenesis GO:0120163 ISS
    positive regulation of bone mineralization involved in bone maturation GO:1900159 IEA
    negative regulation of relaxation of muscle GO:1901078 IEA
    regulation of aerobic respiration GO:1903715 ISS
    positive regulation of glucose catabolic process to lactate via pyruvate GO:1904025 ISS
Subcellular Localization
    cytosol GO:0005829 TAS
    actin filament GO:0005884 TAS
    plasma membrane GO:0005886 IBA
    brush border GO:0005903 IEA
    focal adhesion GO:0005925 IMP
    Z disc GO:0030018 IBA
    cell junction GO:0030054 IBA
    cortical actin cytoskeleton GO:0030864 IBA
    pseudopodium GO:0031143 TAS
    cell projection GO:0042995 IBA
    extracellular exosome GO:0070062 HDA
 Experiment description of studies that identified ACTN3 in sEVs
1
Experiment ID 126
MISEV standards
✘ Biophysical techniques
✔
GAPDH
Enriched markers
✘ Negative markers
✘ Particle analysis
Identified molecule protein
Identification method Mass spectrometry [LTQ-FT Ultra]
PubMed ID Unpublished / Not applicable
Organism Homo sapiens
Experiment description Mesenchymal Stem Cell Exosomes: The Future MSC-based Therapy?
Authors "Ruenn Chai Lai, Ronne Wee Yeh Yeo, Soon Sim Tan, Bin Zhang, Yijun Yin, Newman Siu Kwan Sze, Andre Choo, and Sai Kiang Lim"
Journal name Mesenchymal Stem Cell Therapy
Publication year 2011
Sample Mesenchymal stem cells
Sample name huES9.E1
Isolation/purification methods HPLC
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Antobody array
Mass spectrometry
2
Experiment ID 224
MISEV standards
✔
EM|AFM
Biophysical techniques
✔
Alix|TSG101|CD63|CD81
Enriched markers
✔
GOLGA2
Negative markers
✘ Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 25944692    
Organism Homo sapiens
Experiment description Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes
Authors "Keerthikumar S, Gangoda L, Liem M, Fonseka P, Atukorala I, Ozcitti C, Mechler A, Adda CG, Ang CS, Mathivanan S"
Journal name Oncotarget
Publication year 2015
Sample Neuroblastoma cells
Sample name SH-SY5Y
Isolation/purification methods Differential centrifugation
Ultracentrifugation
OptiPrep density gradient
Flotation density 1.10 g/mL
Molecules identified in the study Protein
Methods used in the study Mass spectrometry
Western blotting
3
Experiment ID 834
MISEV standards
✔
EM
Biophysical techniques
✔
LAMP2|CD63|FLOT1|ITGA2B|ICAM1|CD9|CD151|TFRC|RAB5A|GAPDH|AQP1|TSG101
Enriched markers
✔
CANX
Negative markers
✔
NTA
Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 35333565    
Organism Homo sapiens
Experiment description LAMP2A regulates the loading of proteins into exosomes
Authors "Ferreira JV, da Rosa Soares A, Ramalho J, Máximo Carvalho C, Cardoso MH, Pintado P, Carvalho AS, Beck HC, Matthiesen R, Zuzarte M, Girão H, van Niel G, Pereira P"
Journal name Sci Adv
Publication year 2022
Sample Retinal pigment epithelial cells
Sample name ARPE-19
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectrometry
4
Experiment ID 835
MISEV standards
✔
EM
Biophysical techniques
✔
CD63|FLOT1|ITGA2B|ICAM1|CD9|CD151|TFRC|RAB5A|GAPDH|AQP1|TSG101
Enriched markers
✔
CANX
Negative markers
✔
NTA
Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 35333565    
Organism Homo sapiens
Experiment description LAMP2A regulates the loading of proteins into exosomes
Authors "Ferreira JV, da Rosa Soares A, Ramalho J, Máximo Carvalho C, Cardoso MH, Pintado P, Carvalho AS, Beck HC, Matthiesen R, Zuzarte M, Girão H, van Niel G, Pereira P"
Journal name Sci Adv
Publication year 2022
Sample Retinal pigment epithelial cells
Sample name ARPE-19
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectrometry
5
Experiment ID 191
MISEV standards
✘ Biophysical techniques
✔
Alix|CD81|CD9
Enriched markers
✘ Negative markers
✘ Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 20124223    
Organism Homo sapiens
Experiment description Hypoxic tumor cell modulates its microenvironment to enhance angiogenic and metastatic potential by secretion of proteins and exosomes.
Authors "Park JE, Tan HS, Datta A, Lai RC, Zhang H, Meng W, Lim SK, Sze SK."
Journal name Mol Cell Proteomics
Publication year 2010
Sample Squamous carcinoma cells
Sample name Squamous carcinoma cell (A431)
Isolation/purification methods Differential centrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Mass spectrometry
 Protein-protein interactions for ACTN3
  Protein Interactor ExoCarta ID Identification method PubMed Species
1 ZNF219  
Affinity Capture-MS Homo sapiens
2 IVD 3712
Two-hybrid Homo sapiens
3 ANLN 54443
Affinity Capture-MS Homo sapiens
4 CXCL5  
Two-hybrid Homo sapiens
5 DDAH2 23564
Two-hybrid Homo sapiens
6 ACTN1 87
Two-hybrid Homo sapiens
Cross-Linking-MS (XL-MS) Homo sapiens
7 ABI3 51225
Two-hybrid Homo sapiens
8 HOXD12  
Two-hybrid Homo sapiens
9 MECOM 2122
Affinity Capture-MS Homo sapiens
10 GRAMD2  
Affinity Capture-MS Homo sapiens
11 GPBP1  
Affinity Capture-MS Homo sapiens
12 CTDSP1 58190
Two-hybrid Homo sapiens
13 SNAI1  
Two-hybrid Homo sapiens
14 PDLIM1 9124
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
15 CHTOP  
Affinity Capture-MS Homo sapiens
16 KIF14 9928
Affinity Capture-MS Homo sapiens
17 SYNPO2L  
Two-hybrid Homo sapiens
18 EIF3C 8663
Affinity Capture-MS Homo sapiens
19 C5orf24 134553
Affinity Capture-MS Homo sapiens
20 CTAG1A  
Two-hybrid Homo sapiens
21 ECT2 1894
Affinity Capture-MS Homo sapiens
22 LRRCC1  
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
23 CTAG1B  
Two-hybrid Homo sapiens
24 MYPN 84665
Two-hybrid Homo sapiens
25 RSPH6A  
Affinity Capture-MS Homo sapiens
26 TSPAN33 340348
Affinity Capture-MS Homo sapiens
27 ENTPD6  
Affinity Capture-MS Homo sapiens
28 BRCA1 672
Two-hybrid Homo sapiens
29 NEBL 10529
Two-hybrid Homo sapiens
30 MYOZ1  
Two-hybrid Homo sapiens
31 KIF20A 10112
Affinity Capture-MS Homo sapiens
32 KRT39  
Affinity Capture-MS Homo sapiens
33 LZTR1 8216
Affinity Capture-MS Homo sapiens
34 PLEKHG2 64857
Two-hybrid Homo sapiens
Two-hybrid Homo sapiens
35 FAM90A1  
Two-hybrid Homo sapiens
36 ACTN3 89
Two-hybrid Homo sapiens
Two-hybrid Homo sapiens
Two-hybrid Homo sapiens
Two-hybrid Homo sapiens
37 GLIS2  
Two-hybrid Homo sapiens
38 C1orf94  
Two-hybrid Homo sapiens
39 RNF111 54778
Two-hybrid Homo sapiens
40 RLN2  
Affinity Capture-MS Homo sapiens
41 XRCC6BP1  
Two-hybrid Homo sapiens
42 ZNF426  
Two-hybrid Homo sapiens
43 LATS1  
Affinity Capture-MS Homo sapiens
44 TRAF2 7186
Two-hybrid Homo sapiens
45 RTP5  
Two-hybrid Homo sapiens
46 ODF3B  
Two-hybrid Homo sapiens
47 MICALL1 85377
Affinity Capture-MS Homo sapiens
48 PTK6  
Two-hybrid Homo sapiens
49 KRT6C 286887
Two-hybrid Homo sapiens
50 ZSCAN5A  
Affinity Capture-MS Homo sapiens
51 POU6F2  
Two-hybrid Homo sapiens
52 AKAP17A  
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
53 C20orf85  
Two-hybrid Homo sapiens
54 CHMP4C 92421
Affinity Capture-MS Homo sapiens
55 PRC1 9055
Affinity Capture-MS Homo sapiens
56 SOHLH1  
Two-hybrid Homo sapiens
57 ACTN4 81
Two-hybrid Homo sapiens
Two-hybrid Homo sapiens
Cross-Linking-MS (XL-MS) Homo sapiens
58 TMEM183A  
Affinity Capture-MS Homo sapiens
59 REL 5966
Two-hybrid Homo sapiens
60 PCCB 5096
Two-hybrid Homo sapiens
61 LACTB2 51110
Affinity Capture-MS Homo sapiens
62 LHX3  
Two-hybrid Homo sapiens
63 BCHE 590
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
64 HGS 9146
Two-hybrid Homo sapiens
65 CADPS  
Two-hybrid Homo sapiens
66 PPP1R18 170954
Two-hybrid Homo sapiens
67 ACTN2 88
Far Western Homo sapiens
Reconstituted Complex Homo sapiens
Affinity Capture-Western Homo sapiens
Cross-Linking-MS (XL-MS) Homo sapiens
Far Western Homo sapiens
Reconstituted Complex Homo sapiens
Affinity Capture-Western Homo sapiens
68 MYOT  
Two-hybrid Homo sapiens
69 MAGEA6  
Two-hybrid Homo sapiens
70 CHMP4B 128866
Affinity Capture-MS Homo sapiens
71 MYH7 4625
Co-fractionation Homo sapiens
72 ECM1 1893
Two-hybrid Homo sapiens
73 SUMO1P1  
Two-hybrid Homo sapiens
74 ASB9  
Two-hybrid Homo sapiens
75 TRIM29 23650
Two-hybrid Homo sapiens
76 HSF2BP  
Two-hybrid Homo sapiens
77 MICALL2 79778
Two-hybrid Homo sapiens
78 MYH15  
Co-fractionation Homo sapiens
79 MTMR9 66036
Affinity Capture-MS Homo sapiens
80 ALS2CR11  
Two-hybrid Homo sapiens
81 KCTD6  
Two-hybrid Homo sapiens
82 TRAF1 7185
Two-hybrid Homo sapiens
83 C11orf57  
Two-hybrid Homo sapiens
View the network image/svg+xml
 Pathways in which ACTN3 is involved
PathwayEvidenceSource
Cell-Cell communication IEA Reactome
Muscle contraction TAS Reactome
Nephrin family interactions IEA Reactome
Striated Muscle Contraction TAS Reactome





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