Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeSplicing |
yes
|
gptkbp:associatedWith |
long QT syndrome
|
gptkbp:encodes |
alpha-1-syntrophin
|
gptkbp:Entrez_Gene_ID |
6641
|
gptkbp:expressedIn |
gptkb:skeletal_muscle
brain heart |
gptkbp:function |
signal transduction
scaffolding protein |
gptkbp:HGNC_ID |
11144
|
https://www.w3.org/2000/01/rdf-schema#label |
SNTA1
|
gptkbp:interactsWith |
gptkb:utrophin
gptkb:dystrophin neuronal nitric oxide synthase (nNOS) |
gptkbp:locatedOnChromosome |
gptkb:20q11.21
|
gptkbp:memberOf |
syntrophin family
|
gptkbp:OMIM |
601017
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:product |
alpha-1-syntrophin
|
gptkbp:UniProtID |
O43760
|
gptkbp:bfsParent |
gptkb:syntrophin
|
gptkbp:bfsLayer |
7
|