| Gene Information | |
|---|---|
| Gene Name | ACTN1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 892 |
| Protein Names | Alpha-actinin-1 (Alpha-actinin cytoskeletal isoform) (F-actin cross-linking protein) (Non-muscle alpha-actinin-1) |
| Target Name | alpha-actinin-1 |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000072110 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | P12814 |
| Gene Card | ACTN1 |
| Uniprot ID | P12814 |
| Pfam | PF00307; PF08726; PF00435 |
| In ASD | no |
| Allosteric Prediction | yes (1.170294939) |
| Ortholog in Animals | Alpaca_ ACTN1 ( ortholog_one2one ) Dog_ ACTN1 ( ortholog_one2one ) GuineaPig_ ACTN1 ( ortholog_one2one ) Macaque_ ACTN1 ( ortholog_one2one ) Mouse_ Actn1 ( ortholog_one2one ) Pig_ ACTN1 ( ortholog_one2one ) Rat_ Actn1 ( ortholog_one2one ) Rabbit_ ACTN1 ( ortholog_one2one ) |
| Ohnologs | ACTN4, ACTN2 |
| Paralogs | DSP, SPTBN5, ACTN4, MICAL2, DMD, SYNE3, GAS2L2, SPTBN2, FLNB, SPTAN1, SYNE2, PLEC, EPPK1, SYNE1, CLMN, DYTN, MICAL3, PKHD1, SMTNL2, DRP2, UTRN, PKHD1L1, ACTN2, ACTN3, MICAL1, SPTBN1, MACF1, DST, SPTB, GAS2L3, FLNC, FLNA, DTNA, SPTA1, DTNB, SPTBN4 |
| Tissue | NA |
| Tissue Specificity | NA |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 2EYI (X-ray 1.70A ) 2EYN (X-ray 1.80A ) 2N8Y (NMR - ) 2N8Z (NMR - ) |
| DBSNP | rs387907346 rs387907348 rs387907345 rs904887313 rs387907350 rs7157661 rs387907349 rs387907347 rs11557769 |
| Subcellular location [CC] | Cytoplasm, cytoskeleton {ECO:0000269|PubMed:24069336, ECO:0000269|PubMed:7750553}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:7750553}. Cell membrane {ECO:0000250|UniProtKB:Q9Z1P2}. Cell junction {ECO:0000250|UniProtKB:Q9Z1P2}. Cell projection, ruffle {ECO:0000250|UniProtKB:Q7TPR4}. Note=Colocalizes with MYOZ2 and PPP3CA at the Z-line of heart and skeletal muscle. Colocalizes with PSD in membrane ruffles and central reticular structures. {ECO:0000250|UniProtKB:Q7TPR4}. |
| Mouse PG classification | NA |
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