Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:IKBKAP
|
| gptkbp:associatedWith |
gptkb:familial_dysautonomia
|
| gptkbp:component |
elongator complex
|
| gptkbp:discoveredIn |
2000s
|
| gptkbp:encodes |
gptkb:elongator_complex_protein_1
|
| gptkbp:Entrez_Gene_ID |
8518
ENSG00000112343 |
| gptkbp:expressedIn |
gptkb:nervous_system
|
| gptkbp:function |
neuronal development
tRNA modification |
| https://www.w3.org/2000/01/rdf-schema#label |
ELP1
|
| gptkbp:involvedIn |
transcriptional elongation
|
| gptkbp:length |
1332 amino acids
|
| gptkbp:locatedOnChromosome |
9q31
|
| gptkbp:mutationAssociatedWith |
hereditary sensory and autonomic neuropathy type III
splice site mutation |
| gptkbp:OMIM |
603722
|
| gptkbp:orthologInMouse |
gptkb:Elp1
|
| gptkbp:orthologInYeast |
gptkb:ELP1
|
| gptkbp:UniProtID |
Q9NYU2
|
| gptkbp:bfsParent |
gptkb:IKBKAP_gene
|
| gptkbp:bfsLayer |
6
|