Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alternativeName |
gptkb:Chromosome_9_open_reading_frame_72_protein
|
| gptkbp:associatedWith |
amyotrophic lateral sclerosis
frontotemporal dementia |
| gptkbp:encodedBy |
gptkb:C9orf72_gene
|
| gptkbp:Entrez_Gene_ID |
203228
ENSG00000147894 |
| gptkbp:function |
autophagy regulation
regulation of endosomal trafficking |
| https://www.w3.org/2000/01/rdf-schema#label |
C9orf72 protein
|
| gptkbp:interactsWith |
gptkb:SMCR8_protein
gptkb:WDR41_protein |
| gptkbp:length |
481 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:9p21.2
|
| gptkbp:molecularWeight |
54 kDa
|
| gptkbp:mutationAssociatedWith |
hexanucleotide repeat expansion causes neurodegeneration
|
| gptkbp:OMIM |
614260
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:subcellularLocation |
gptkb:nucleus
gptkb:cytoplasm |
| gptkbp:UniProtID |
Q96LT7
|
| gptkbp:bfsParent |
gptkb:C9orf72
|
| gptkbp:bfsLayer |
5
|