GONUTS is under stress! The website is currently experiencing long-wait times and frequent time-outs due to the record number of students, groups, and annotations related to CACAO this semester. We are currently working on increasing performance -- please accept our apologies for the technical difficulties.
You can help reduce stress on the server by:
- not reloading pages frequently - this just adds
- opening links in new windows (so you can read the old page)
HUMAN:ACTN3
Contents |
| Species (Taxon ID) | Homo sapiens (Human). (9606) | |
| Gene Name(s) | ACTN3 | |
| Protein Name(s) | Alpha-actinin-3
Alpha-actinin skeletal muscle isoform 3 F-actin cross-linking protein | |
| External Links | ||
| UniProt | Q08043 | |
| EMBL | M86407 AP002748 BC099647 BC099649 | |
| IPI | IPI00032137 | |
| PIR | B40199 | |
| RefSeq | NP_001095.1 | |
| UniGene | Hs.654432 | |
| PDB | 1TJT 1WKU 3LUE | |
| PDBsum | 1TJT 1WKU 3LUE | |
| ProteinModelPortal | Q08043 | |
| SMR | Q08043 | |
| IntAct | Q08043 | |
| MINT | MINT-269455 | |
| PhosphoSite | Q08043 | |
| DMDM | 215273967 | |
| PRIDE | Q08043 | |
| GeneID | 89 | |
| KEGG | hsa:89 | |
| CTD | 89 | |
| GeneCards | GC11P066314 | |
| HGNC | HGNC:165 | |
| MIM | 102574 | |
| neXtProt | NX_Q08043 | |
| PharmGKB | PA24485 | |
| eggNOG | prNOG13309 | |
| HOVERGEN | HBG050453 | |
| Reactome | REACT_111155 REACT_17044 | |
| NextBio | 331 | |
| CleanEx | HS_ACTN3 | |
| Genevestigator | Q08043 | |
| GermOnline | ENSG00000204633 | |
| GO | GO:0005884 GO:0005829 GO:0005925 GO:0031143 GO:0003779 GO:0005509 GO:0005178 GO:0042803 GO:0008307 GO:0048041 GO:0030049 GO:0042981 | |
| InterPro | IPR001589 IPR001715 IPR011992 IPR014837 IPR018249 IPR002048 IPR018159 IPR002017 | |
| Gene3D | G3DSA:1.10.418.10 G3DSA:1.10.238.10 | |
| KO | K05699 | |
| Pfam | PF00307 PF08726 PF00435 | |
| SMART | SM00033 SM00054 SM00150 | |
| SUPFAM | SSF47576 | |
| PROSITE | PS00019 PS00020 PS50021 PS50222 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0003779 |
actin binding |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0003779 |
actin binding |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0005178 |
integrin binding |
TAS: Traceable Author Statement |
|
F |
Seeded From UniProt |
|||
| GO:0005509 |
calcium ion binding |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0005509 |
calcium ion binding |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
Seeded From UniProt |
||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
Seeded From UniProt |
||||
| GO:0005829 |
cytosol |
Reactome:REACT_16902 |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
||
| GO:0005829 |
cytosol |
Reactome:REACT_16935 |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
||
| GO:0005829 |
cytosol |
Reactome:REACT_16995 |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
||
| GO:0005829 |
cytosol |
Reactome:REACT_17057 |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
||
| GO:0005884 |
actin filament |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
|||
| GO:0005925 |
focal adhesion |
IMP: Inferred from Mutant Phenotype |
|
C |
Seeded From UniProt |
|||
| GO:0008307 |
structural constituent of muscle |
TAS: Traceable Author Statement |
|
F |
Seeded From UniProt |
|||
| GO:0030049 |
muscle filament sliding |
Reactome:REACT_16969 |
TAS: Traceable Author Statement |
|
P |
Seeded From UniProt |
||
| GO:0031143 |
pseudopodium |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
|||
| GO:0042803 |
protein homodimerization activity |
TAS: Traceable Author Statement |
|
F |
Seeded From UniProt |
|||
| GO:0042981 |
regulation of apoptotic process |
NAS: Non-traceable Author Statement |
|
P |
Seeded From UniProt |
|||
| GO:0048041 |
focal adhesion assembly |
IMP: Inferred from Mutant Phenotype |
|
P |
Seeded From UniProt |
|||
| GO:0007519 |
skeletal muscle tissue development |
IGI: Inferred from Genetic Interaction |
|
P |
The ACE I and ACTN3 X alleles determine speed and power for Lithuanian athletes. Table 3 shows that Lithuanian athletes who are carriers of the ACE I/I and I/D as well as ACTN3 X/X and R/X genotypes have the potential to achieve better results in power-requiring sports |
complete | ||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ Pavalko FM & LaRoche SM (1993) Activation of human neutrophils induces an interaction between the integrin beta 2-subunit (CD18) and the actin binding protein alpha-actinin. J Immunol 151: 3795-807 PubMed GONUTS page
- ↑ Takada F et al. (2001) Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. Proc Natl Acad Sci U S A 98: 1595-600 PubMed GONUTS page
- ↑ Bang ML et al. (2001) Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies. J Cell Biol 153: 413-27 PubMed GONUTS page
- ↑ 4.0 4.1 Beggs AH et al. (1992) Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. J Biol Chem 267: 9281-8 PubMed GONUTS page
- ↑ 5.0 5.1 5.2 Triplett JW & Pavalko FM (2006) Disruption of alpha-actinin-integrin interactions at focal adhesions renders osteoblasts susceptible to apoptosis. Am J Physiol Cell Physiol 291: C909-21 PubMed GONUTS page
- ↑ Yürüker B & Niggli V (1992) Alpha-actinin and vinculin in human neutrophils: reorganization during adhesion and relation to the actin network. J Cell Sci 101 ( Pt 2): 403-14 PubMed GONUTS page
- ↑ Asanuma K et al. (2005) Synaptopodin regulates the actin-bundling activity of alpha-actinin in an isoform-specific manner. J Clin Invest 115: 1188-98 PubMed GONUTS page
- ↑ Ginevičienė V et al. (2011) Genetic variation of the human ACE and ACTN3 genes and their association with functional muscle properties in Lithuanian elite athletes. Medicina (Kaunas) 47: 284-90 PubMed GONUTS page
acf |
f cont.imp |
p cont.rs |
