Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicingRegulator |
yes
|
| gptkbp:associatedWith |
gptkb:myotonic_dystrophy
|
| gptkbp:encodes |
MBNL1 protein
|
| gptkbp:Entrez_Gene_ID |
4154
ENSG00000152601 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
brain heart |
| gptkbp:fullName |
Muscleblind-like splicing regulator 1
|
| gptkbp:function |
regulation of alternative splicing
|
| gptkbp:HGNC_ID |
HGNC:6911
|
| https://www.w3.org/2000/01/rdf-schema#label |
MBNL1
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_3
|
| gptkbp:mutationAssociatedWith |
gptkb:myotonic_dystrophy_type_1
|
| gptkbp:OMIM |
606516
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Mbnl1
|
| gptkbp:proteinFamily |
muscleblind-like proteins
|
| gptkbp:UniProtID |
O95544
|
| gptkbp:bfsParent |
gptkb:CELF1
|
| gptkbp:bfsLayer |
8
|