Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
PACS1 syndrome
|
| gptkbp:encodes |
PACS1 protein
|
| gptkbp:Entrez_Gene_ID |
23309
|
| gptkbp:fullName |
phosphofurin acidic cluster sorting protein 1
|
| gptkbp:function |
protein sorting
trafficking of proteins between Golgi and endosomes |
| gptkbp:HGNC_ID |
HGNC:8622
|
| https://www.w3.org/2000/01/rdf-schema#label |
PACS1
|
| gptkbp:locatedOnChromosome |
chromosome 11
|
| gptkbp:mutationAssociatedWith |
intellectual disability
developmental delay craniofacial abnormalities |
| gptkbp:OMIM |
604366
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
Q6VY07
|
| gptkbp:bfsParent |
gptkb:PACS-1
|
| gptkbp:bfsLayer |
8
|