Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
microcephalic osteodysplastic primordial dwarfism type II
|
| gptkbp:discoveredBy |
Doxsey et al.
|
| gptkbp:encodes |
pericentrin protein
|
| gptkbp:Entrez_Gene_ID |
5116
ENSG00000160299 |
| gptkbp:expressedIn |
gptkb:human
|
| gptkbp:firstDescribed |
1994
|
| gptkbp:fullName |
pericentrin
|
| gptkbp:function |
centrosome organization
microtubule nucleation |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:8727
|
| gptkbp:interactsWith |
AKAP9
CEP215 gamma-tubulin |
| gptkbp:length |
3336 amino acids
|
| gptkbp:locatedOnChromosome |
21q22.3
|
| gptkbp:molecularWeight |
~370 kDa
|
| gptkbp:mutationAssociatedWith |
Seckel syndrome
|
| gptkbp:OMIM |
605925
|
| gptkbp:orthologInMouse |
Pcnt
|
| gptkbp:subcellularLocation |
gptkb:cytoplasm
centrosome |
| gptkbp:UniProtID |
O95613
|
| gptkbp:bfsParent |
gptkb:human_chromosome_21
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
PCNT
|