Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:SAF-A
heterogeneous nuclear ribonucleoprotein U1 |
| gptkbp:associatedWith |
neurological disorder
Epilepsy |
| gptkbp:discoveredBy |
multiple researchers
|
| gptkbp:encodes |
heterogeneous nuclear ribonucleoprotein U
|
| gptkbp:Entrez_Gene_ID |
3192
|
| gptkbp:expressedIn |
gptkb:nucleus
various tissues |
| gptkbp:firstDescribed |
1990s
|
| gptkbp:function |
chromatin organization
RNA binding pre-mRNA processing |
| https://www.w3.org/2000/01/rdf-schema#label |
HNRNPU gene
|
| gptkbp:locatedOnChromosome |
chromosome 1
1q44 |
| gptkbp:mutationAssociatedWith |
intellectual disability
seizures |
| gptkbp:OMIM |
602869
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
gptkb:mouse
gptkb:zebrafish |
| gptkbp:proteinFamily |
hnRNP family
|
| gptkbp:UniProtID |
gptkb:Q00839
|
| gptkbp:bfsParent |
gptkb:HNRNPU
|
| gptkbp:bfsLayer |
7
|