Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:IKAP
gptkb:IKBKAP Elongator complex protein 1 |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Familial_dysautonomia
|
| gptkbp:discoveredBy |
2000s
|
| gptkbp:encodes |
Elongator complex protein 1
|
| gptkbp:Entrez_Gene_ID |
54751
|
| gptkbp:expressedIn |
gptkb:nervous_system
|
| gptkbp:function |
component of the Elongator complex
involved in tRNA modification involved in transcriptional elongation |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:28941
|
| https://www.w3.org/2000/01/rdf-schema#label |
ELP1 gene
|
| gptkbp:length |
37 exons
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_9
9q31 |
| gptkbp:mutationAssociatedWith |
causes familial dysautonomia
|
| gptkbp:OMIM |
603722
|
| gptkbp:orthologInMouse |
gptkb:Elp1
|
| gptkbp:pathway |
RNA polymerase II transcription elongation
tRNA wobble uridine modification |
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
Q9NWS8
|
| gptkbp:bfsParent |
gptkb:elongator_complex_protein_1
|
| gptkbp:bfsLayer |
7
|