centrosomal protein of 290 kDa
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alsoKnownAs |
gptkb:CEP290
|
| gptkbp:associatedWith |
gptkb:Leber_congenital_amaurosis
gptkb:Joubert_syndrome gptkb:Meckel_syndrome gptkb:Senior-Loken_syndrome |
| gptkbp:encodedBy |
gptkb:CEP290_gene
|
| gptkbp:Entrez_Gene_ID |
80184
|
| gptkbp:foundIn |
gptkb:Homo_sapiens
|
| gptkbp:function |
cilia formation
centrosome organization |
| https://www.w3.org/2000/01/rdf-schema#label |
centrosomal protein of 290 kDa
|
| gptkbp:interactsWith |
gptkb:BBS_proteins
gptkb:NPHP5 gptkb:RPGR |
| gptkbp:locatedOnChromosome |
12q21.32
|
| gptkbp:location |
centrosome
ciliary transition zone |
| gptkbp:molecularWeight |
290 kDa
|
| gptkbp:OMIM |
610142
|
| gptkbp:UniProtID |
O15078
|
| gptkbp:bfsParent |
gptkb:CEP290_gene
|
| gptkbp:bfsLayer |
7
|