| CEP78 | |||||||||||||||||||||||||
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| Aliases | CEP78 , C9orf81, IP63, centrosomal protein 78, CRDHL | ||||||||||||||||||||||||
| External IDs | OMIM: 617110 MGI: 1924386 HomoloGene: 11030 GeneCards: CEP78 | ||||||||||||||||||||||||
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| Orthologs | |||||||||||||||||||||||||
| Species | Human | Mouse | |||||||||||||||||||||||
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| RefSeq (mRNA) |
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| RefSeq (protein) |
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| Location (UCSC) | Chr 9: 78.24 – 78.28 Mb | Chr 19: 15.96 – 15.98 Mb | |||||||||||||||||||||||
| PubMed search | [3] | [4] | |||||||||||||||||||||||
| Wikidata | |||||||||||||||||||||||||
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Centrosomal protein of 78 kDa, also known as Cep78, is a protein that in humans is encoded by the CEP78 gene. [5] [6]
Mutations in this gene have been associated with cone-rod dystrophy with hearing loss. [7]
Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of chromosome 12.
Centrosome-associated protein 350 is a protein that in humans is encoded by the CEP350 gene.
CDK5 regulatory subunit-associated protein 2 is a protein that in humans is encoded by the CDK5RAP2 gene. It has necessary roles in the formation and stability of microtubules from the centrosome and has been found to be linked to human brain size variation in males. Multiple transcript variants exist for this gene, but the full-length nature of only two has been determined.
Centrosome-associated protein CEP250 is a protein that in humans is encoded by the CEP250 gene. This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Furthermore, CEP135 is also required for the centriolar localization of CEP250.
FGFR1 oncogene partner is a protein that in humans is encoded by the FGFR1OP gene.
Centrosomal protein 170kDa, also known as CEP170, is a protein that in humans is encoded by the CEP170 gene.
Centrosomal protein of 68 kDa is a protein that in humans is encoded by the CEP68 gene. CEP68 is required for centrosome cohesion. It decorates fibres emanating from the proximal ends of centrioles. During mitosis, CEP68 dissociates from centrosomes. CEP68 and rootletin depend both on each other for centriole association, and both also require CEP250 for their function.
5-azacytidine-induced protein 1 is a protein that in humans is encoded by the AZI1 gene.
Centrosomal protein of 63 kDa is a protein that in humans is encoded by the CEP63 gene. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined.
Centrosomal protein of 57 kDa is a protein that in humans is encoded by the CEP57 gene. It is also known as translokin.
Centriolar coiled-coil protein of 110 kDa also known as centrosomal protein of 110 kDa or CP110 is a protein that in humans is encoded by the CCP110 gene. It is a cell cycle-dependent CDK substrate and regulates centrosome duplication. CP110 suppresses a cilia assembly program.
Centrosomal protein of 72 kDa is a protein that in humans is encoded by the CEP72 gene.
Centrosomal protein of 70 kDa is a protein that in humans is encoded by the CEP70 gene. The protein interacts with γ-tubulin through its coiled coil domains to localize at the centrosome. CEP70 is involved in organizing microtubules in interphase cells and is required for proper organization and orientation of the mitotic spindle.
Centrosomal protein of 135 kDa is a protein that in humans is encoded by the CEP135 gene. It is part of the centrosome throughout the cell cycle, being distributed in the pericentriolar material. CEP135 is required for the centriolar localization of CEP250.
Rootletin also known as ciliary rootlet coiled-coil protein (CROCC) is a protein that in humans is encoded by the CROCC gene. Rootletin is a component of the ciliary rootlet, and, together with CEP68 and CEP250, is required for centrosome cohesion.
Centrosomal protein of 192 kDa, also known as Cep192, is a protein that in humans is encoded by the CEP192 gene. It is the homolog of the C. elegans and D. melanogaster gene SPD-2.
Centrosomal protein of 164 kDa, also known as CEP164, is a protein that in humans is encoded by the CEP164 gene. Its function appears two be twofold: CEP164 is required for primary cilium formation. Furthermore, it is an important component in the response to DNA damage by UV light.
Centrosomal protein of 76 kDa, also known as CEP76, is a protein that in humans is encoded by the CEP76 gene.
Centrosomal protein of 152 kDa, also known as Cep152, is a protein that in humans is encoded by the CEP152 gene. It is the ortholog of the Drosophila melanogaster gene asterless (asl) and both are required for centriole duplication.
Spindle assembly abnormal protein 6 homolog (SAS-6) is a protein that in humans is encoded by the SASS6 gene.
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