Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:ASMA
gptkb:ACTA alpha-actin-1 skelatal muscle actin |
| gptkbp:associatedWith |
muscular dystrophy
nemaline myopathy actin myopathy intranuclear rod myopathy |
| gptkbp:discoveredBy |
multiple researchers
|
| gptkbp:encodes |
actin, alpha skeletal muscle
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000143632
58 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
|
| gptkbp:function |
muscle contraction
cytoskeleton structure |
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
HGNC:109
|
| https://www.w3.org/2000/01/rdf-schema#label |
ACTA1 gene
|
| gptkbp:locatedOnChromosome |
chromosome 1
1q42.13 |
| gptkbp:mutationAssociatedWith |
muscle weakness
muscle fiber structural abnormalities |
| gptkbp:OMIM |
102610
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Acta1
|
| gptkbp:partOf |
actin gene family
|
| gptkbp:product |
alpha-actin-1
|
| gptkbp:referenceGenome |
gptkb:NM_001100.3
|
| gptkbp:UniProtID |
gptkb:P68133
|
| gptkbp:bfsParent |
gptkb:actin
|
| gptkbp:bfsLayer |
7
|