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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 | |
| PIR | B40199 | |
| RefSeq | NP_001095.2 NP_001245300.2 | |
| UniGene | Hs.654432 Hs.737862 | |
| PDB | 1TJT 1WKU 3LUE | |
| PDBsum | 1TJT 1WKU 3LUE | |
| ProteinModelPortal | Q08043 | |
| SMR | Q08043 | |
| BioGrid | 106604 | |
| IntAct | Q08043 | |
| MINT | MINT-269455 | |
| PhosphoSite | Q08043 | |
| DMDM | 215273967 | |
| MaxQB | Q08043 | |
| PRIDE | Q08043 | |
| Ensembl | ENST00000513398 | |
| GeneID | 89 | |
| KEGG | hsa:89 | |
| CTD | 89 | |
| GeneCards | GC11P066314 | |
| HGNC | HGNC:165 | |
| MIM | 102574 | |
| neXtProt | NX_Q08043 | |
| PharmGKB | PA24485 | |
| GeneTree | ENSGT00760000118813 | |
| HOVERGEN | HBG050453 | |
| InParanoid | Q08043 | |
| KO | K05699 | |
| PhylomeDB | Q08043 | |
| Reactome | REACT_16969 REACT_23832 | |
| EvolutionaryTrace | Q08043 | |
| GeneWiki | ACTN3 | |
| GenomeRNAi | 89 | |
| NextBio | 331 | |
| PRO | PR:Q08043 | |
| Proteomes | UP000005640 | |
| CleanEx | HS_ACTN3 | |
| ExpressionAtlas | Q08043 | |
| Genevestigator | Q08043 | |
| GO | GO:0005884 GO:0005829 GO:0070062 GO:0005925 GO:0031143 GO:0005509 GO:0005178 GO:0042803 GO:0008307 GO:0048041 GO:0030049 GO:0042981 | |
| Gene3D | 1.10.238.10 1.10.418.10 | |
| InterPro | IPR001589 IPR001715 IPR011992 IPR014837 IPR002048 IPR018159 IPR002017 | |
| Pfam | PF00307 PF08726 PF00435 | |
| SMART | SM00033 SM00054 SM00150 | |
| SUPFAM | SSF47576 | |
| PROSITE | PS00019 PS00020 PS50021 PS50222 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|---|---|
|
involved_in |
GO:0120163 |
negative regulation of cold-induced thermogenesis |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0044325 |
ion channel binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0090324 |
negative regulation of oxidative phosphorylation |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
occurs_in:(UBERON:0001630) |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0070885 |
negative regulation of calcineurin-NFAT signaling cascade |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
occurs_in:(UBERON:0001630) |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0048633 |
positive regulation of skeletal muscle tissue growth |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0014894 |
response to denervation involved in regulation of muscle adaptation |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0014732 |
skeletal muscle atrophy |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:1904025 |
positive regulation of glucose catabolic process to lactate via pyruvate |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
happens_during:(GO:0014883) |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:1903715 |
regulation of aerobic respiration |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
happens_during:(GO:0014883) |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0045820 |
negative regulation of glycolytic process |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
happens_during:(GO:0014883) |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0014883 |
transition between fast and slow fiber |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0014728 |
regulation of the force of skeletal muscle contraction |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0070062 |
extracellular exosome |
ECO:0007005 |
high throughput direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0048041 |
focal adhesion assembly |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0042981 |
regulation of apoptotic process |
ECO:0000303 |
author statement without traceable support used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005925 |
focal adhesion |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
enables |
GO:0005509 |
calcium ion binding |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
enables |
GO:0008307 |
structural constituent of muscle |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005884 |
actin filament |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
enables |
GO:0042803 |
protein homodimerization activity |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0031143 |
pseudopodium |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
enables |
GO:0005178 |
integrin binding |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0030049 |
muscle filament sliding |
Reactome:R-HSA-390522 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005829 |
cytosol |
Reactome:R-HSA-390598 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
|
C |
Seeded From UniProt |
complete | |
|
enables |
GO:0046872 |
metal ion binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
enables |
GO:0003779 |
actin binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ Head, SI et al. (2015) Altered Ca2+ kinetics associated with α-actinin-3 deficiency may explain positive selection for ACTN3 null allele in human evolution. PLoS Genet. 11 e1004862 PubMed GONUTS page
- ↑ Ziane, R et al. (2010) Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction. Biochemistry 49 166-78 PubMed GONUTS page
- ↑ Principe, S et al. (2013) In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. Proteomics 13 1667-71 PubMed GONUTS page
- ↑ 4.0 4.1 4.2 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
- ↑ 5.0 5.1 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
- ↑ 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
- ↑ 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
- ↑ 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
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