Cep290 - centrosomal protein 290 Gene
Also Known as RGD1311640
Species: Rattus norvegicus
Summary
Predicted to enable identical protein binding activity. Predicted to be involved in several processes, including animal organ development; cilium assembly; and positive regulation of intracellular protein transport. Predicted to act upstream of or within several processes, including animal organ development; determination of left/right symmetry; and photoreceptor cell maintenance. Located in ciliary basal body. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 14; Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4; and Senior-Loken syndrome. Orthologous to human CEP290 (centrosomal protein 290). [provided by Alliance of Genome Resources, Apr 2022]
Cep290 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001135755.2 | NP_001129227.1 | centrosomal protein of 290 kDa isoform 2 |
| NM_001401003.1 | NP_001387932.1 | centrosomal protein of 290 kDa isoform 1 |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in ciliary basal body |
IDA
IDA: Inferred from direct assay
|
17558407 | RGD |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
centrosomal protein of 290 kDa |
|