Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:FHL
SLIM1 XMPMA |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Emery-Dreifuss_muscular_dystrophy
muscular dystrophy reducing body myopathy scapuloperoneal myopathy |
| gptkbp:discoveredBy |
Kadrmas et al.
|
| gptkbp:encodes |
Four and a half LIM domains protein 1
|
| gptkbp:Entrez_Gene_ID |
2273
ENSG00000156886 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
heart |
| gptkbp:firstDescribed |
1997
|
| gptkbp:function |
muscle development
transcriptional regulation |
| gptkbp:HGNC_ID |
3700
|
| https://www.w3.org/2000/01/rdf-schema#label |
FHL1 (gene)
|
| gptkbp:locatedOnChromosome |
gptkb:X_chromosome
Xq26 |
| gptkbp:OMIM |
300163
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Fhl1
|
| gptkbp:proteinFamily |
gptkb:LIM_domain
|
| gptkbp:UniProtID |
Q13642
|
| gptkbp:bfsParent |
gptkb:FHL
|
| gptkbp:bfsLayer |
7
|