| Gene Information | |
|---|---|
| Gene Name | ACTN3 |
| Organism | Homo sapiens (Human) |
| Gene Length | 901 |
| Protein Names | Alpha-actinin-3 (Alpha-actinin skeletal muscle isoform 3) (F-actin cross-linking protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 168 ( ENSG00000248746 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q08043 |
| Gene Card | ACTN3 |
| Uniprot ID | Q08043 |
| Pfam | PF00307; PF08726; PF00435 |
| In ASD | no |
| Allosteric Prediction | yes (0.462763104) |
| Ortholog in Animals | Alpaca_ ACTN3 ( ortholog_one2one ) Dog_ ACTN3 ( ortholog_one2one ) GuineaPig_ ACTN3 ( ortholog_one2one ) Macaque_ ACTN3 ( ortholog_one2one ) Mouse_ Actn3 ( ortholog_one2one ) Pig_ ACTN3 ( ortholog_one2one ) Rat_ Actn3 ( ortholog_one2one ) Rabbit_ ACTN3 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | ACTN2, DSP, SPTBN5, ACTN4, MICAL2, DMD, SYNE3, GAS2L2, SPTBN2, FLNB, SPTAN1, SYNE2, PLEC, EPPK1, SYNE1, CLMN, DYTN, MICAL3, PKHD1, SMTNL2, DRP2, UTRN, PKHD1L1, MICAL1, SPTBN1, MACF1, ACTN1, DST, SPTB, GAS2L3, FLNC, FLNA, DTNA, SPTA1, DTNB, SPTBN4 |
| Tissue | skeletal.muscle, artery |
| Tissue Specificity | Expressed only in a subset of type 2 skeletal muscle fibers. {ECO:0000269|PubMed:11440986}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1TJT (X-ray 2.19A ) 1WKU (X-ray 1.60A ) 3LUE (EM - ) |
| DBSNP | rs1671064 rs618838 rs2229456 rs540874 |
| Subcellular location [CC] | NA |
| Mouse PG classification | NA |
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