Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:ELP1
gptkb:IKAP |
| gptkbp:associatedWith |
gptkb:Familial_dysautonomia
|
| gptkbp:component |
gptkb:Elongator_complex
|
| gptkbp:encodes |
Elongator complex protein 1
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000167552
8518 |
| gptkbp:expressedIn |
gptkb:nervous_system
|
| gptkbp:function |
tRNA modification
transcription elongation |
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
HGNC:6037
|
| https://www.w3.org/2000/01/rdf-schema#label |
IKBKAP
|
| gptkbp:locatedOnChromosome |
9q31
|
| gptkbp:mutationAssociatedWith |
causes familial dysautonomia
|
| gptkbp:OMIM |
603722
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Ikbkap
|
| gptkbp:UniProtID |
Q9NWB6
|
| gptkbp:bfsParent |
gptkb:ELP1
gptkb:elongator_complex_protein_1 |
| gptkbp:bfsLayer |
7
|