| Gene Information | |
|---|---|
| Gene Name | CEP295 |
| Organism | Homo sapiens (Human) |
| Gene Length | 2601 |
| Protein Names | Centrosomal protein of 295 kDa |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000166004 ) |
| Evolutionary Stage | Mammalia |
| AlphaFoldDB | Q9C0D2 |
| Gene Card | CEP295 |
| Uniprot ID | Q9C0D2 |
| Pfam | PF15309 |
| In ASD | no |
| Allosteric Prediction | no (-0.992876199) |
| Ortholog in Animals | Alpaca_ CEP295 ( ortholog_one2one ) Dog_ CEP295 ( ortholog_one2one ) GuineaPig_ CEP295 ( ortholog_one2one ) Macaque_ CEP295 ( ortholog_one2one ) Mouse_ Cep295 ( ortholog_one2one ) Pig_ CEP295 ( ortholog_one2one ) Rat_ Cep295 ( ortholog_one2one ) Rabbit_ CEP295 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | CEP295NL, ALMS1, C10orf90 |
| Tissue | NA |
| Tissue Specificity | NA |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs7128850 rs10831088 rs4753495 rs3802771 rs2298707 rs3802773 rs3802774 |
| Subcellular location [CC] | Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:25131205, ECO:0000269|PubMed:27185865, ECO:0000269|PubMed:32060285}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:20844083, ECO:0000269|PubMed:27185865}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:27185865}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:27185865}. Note=Associates with both of the converted centrioles during G1 but becomes more enriched at the newly formed daughter (or unconverted) centrioles during S, G2, and early M phases (PubMed:25131205, PubMed:32060285). In early S phase, localized at the procentriolar microtubule wall and enriched at the proximal ends of the centrioles in CENPJ- and CEP135-dependent manner (PubMed:27185865). Colocalizes with SASS6 and CEP250 proteins (PubMed:25131205). Colocalizes with CEP135 and CEP192 at the centrosomes (PubMed:27185865). Associates with interphase microtubules and mitotic spindles (PubMed:27185865). Colocalizes with centriolar acetylated tubulin (PubMed:25131205). {ECO:0000269|PubMed:25131205, ECO:0000269|PubMed:27185865, ECO:0000269|PubMed:32060285}. |
| Mouse PG classification | NA |
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