Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:ACTA
alpha-actin-1 alpha skeletal muscle actin skeletal muscle alpha-actin |
| gptkbp:associatedWith |
muscular dystrophy
nemaline myopathy actin myopathy intranuclear rod myopathy |
| gptkbp:discoveredBy |
1979
|
| gptkbp:encodes |
alpha skeletal muscle actin
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000143632
58 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
|
| gptkbp:fullName |
gptkb:actin_alpha_1,_skeletal_muscle
|
| gptkbp:function |
involved in muscle contraction
structural component of the sarcomere |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:124
|
| https://www.w3.org/2000/01/rdf-schema#label |
ACTA1
|
| gptkbp:locatedOnChromosome |
1
1q42.13 |
| gptkbp:mutationAssociatedWith |
causes muscle weakness
|
| gptkbp:OMIM |
102610
|
| gptkbp:orthologInMouse |
Acta1
|
| gptkbp:product |
ACTA1 protein
|
| gptkbp:UniProtID |
gptkb:P68133
|
| gptkbp:bfsParent |
gptkb:HGNC:54
|
| gptkbp:bfsLayer |
7
|