Statements (52)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
FLJ39777
RP11-46A10.2 alpha-actinin-3 |
| gptkbp:associatedWith |
athletic performance
muscle performance |
| gptkbp:biologicalProcess |
muscle contraction
actin binding structural constituent of muscle muscle fiber development |
| gptkbp:cellularComponent |
gptkb:Z-disc
sarcomere |
| gptkbp:discoveredBy |
Kathryn North
|
| gptkbp:discoveredIn |
1999
|
| gptkbp:encodes |
alpha-actinin-3
|
| gptkbp:Entrez_Gene_ID |
89
ENSG00000152681 |
| gptkbp:expressedIn |
fast-twitch muscle fibers
|
| gptkbp:frequency |
R577X common in Eurasian populations
R577X rare in African populations |
| gptkbp:fullName |
actinin alpha 3
|
| gptkbp:function |
structural protein in muscle
cross-links actin filaments |
| gptkbp:hasPolymorphism |
R577X
|
| gptkbp:hasTranscriptVariant |
NM_001104.4
NM_001267550.2 |
| gptkbp:HGNC_ID |
HGNC:164
|
| https://www.w3.org/2000/01/rdf-schema#label |
ACTN3
|
| gptkbp:length |
21,335 bases
|
| gptkbp:locatedOnChromosome |
chromosome 11
|
| gptkbp:location |
gptkb:11q13.2
|
| gptkbp:mutationAssociatedWith |
Q523X
R16H R577X |
| gptkbp:numberOfExons |
22
|
| gptkbp:OMIM |
102574
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
chimpanzee ACTN3
mouse Actn3 |
| gptkbp:proteinFamily |
alpha-actinin family
|
| gptkbp:R577X_effect |
loss of function
alpha-actinin-3 deficiency |
| gptkbp:relatedTo |
muscle strength
endurance performance muscle power sprint performance |
| gptkbp:significance |
influences athletic ability
no known disease association |
| gptkbp:UniProtID |
Q08043
|
| gptkbp:bfsParent |
gptkb:alpha-actinin
gptkb:CSNA3 |
| gptkbp:bfsLayer |
8
|