Statements (49)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:BRUNOL2
gptkb:CUGBP1 NEDY |
| gptkbp:associatedWith |
gptkb:cancer
gptkb:myotonic_dystrophy_type_1 gptkb:myotonic_dystrophy neurodegenerative diseases neurological disorders |
| gptkbp:encodes |
CUGBP Elav-like family member 1 protein
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000149187
10658 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
gptkb:testis brain heart liver |
| gptkbp:function |
regulation of translation
regulation of mRNA decay regulation of pre-mRNA alternative splicing |
| gptkbp:geneType |
protein-coding
|
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
HGNC:17412
|
| https://www.w3.org/2000/01/rdf-schema#label |
CELF1 gene
|
| gptkbp:interactsWith |
gptkb:RNA_polymerase_II
MBNL1 protein other splicing factors |
| gptkbp:locatedOnChromosome |
gptkb:11p11.2
chromosome 11 |
| gptkbp:mutationAssociatedWith |
neurological symptoms
muscle dysfunction abnormal splicing patterns |
| gptkbp:OMIM |
601074
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
mouse Celf1
rat Celf1 |
| gptkbp:postTranslationalModification |
phosphorylation
sumoylation ubiquitination |
| gptkbp:proteinDomains |
three RNA recognition motifs (RRMs)
|
| gptkbp:proteinFamily |
CELF/BRUNOL family
|
| gptkbp:regulates |
alternative splicing of insulin receptor pre-mRNA
alternative splicing of tau pre-mRNA regulated by casein kinase II regulated by protein kinase C alternative splicing of cardiac troponin T pre-mRNA |
| gptkbp:UniProtID |
gptkb:Q92879
|
| gptkbp:bfsParent |
gptkb:CELF1
|
| gptkbp:bfsLayer |
8
|