CEP295 (centrosomal protein 295)

2014-11-01  

Identity

HGNC
LOCATION
11q21
LOCUSID
ALIAS
KIAA1731
FUSION GENES

Other Information

Locus ID:

NCBI: 85459
MIM: 617728
HGNC: 29366
Ensembl: ENSG00000166004

Variants:

dbSNP: 85459
ClinVar: 85459
TCGA: ENSG00000166004
COSMIC: CEP295

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166004ENST00000325212Q9C0D2
ENSG00000166004ENST00000529185E9PM20
ENSG00000166004ENST00000530425E9PJG3
ENSG00000166004ENST00000531404E9PJY3
ENSG00000166004ENST00000531700Q9C0D2
ENSG00000166004ENST00000531877H0YDK0

Expression (GTEx)

0
5
10
15

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
251312052014Stabilization of cartwheel-less centrioles for duplication requires CEP295-mediated centriole-to-centrosome conversion.42
208440832010Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731.35
271858652016CEP295 interacts with microtubules and is required for centriole elongation.19
275624532016Cep295 is a conserved scaffold protein required for generation of a bona fide mother centriole.17

Citation

Dessen P

CEP295 (centrosomal protein 295)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61723/cep295