Sequence Detail

ID/Version

Q60952 Q3UTR4 Q8BLC6 Q6PFF6 E9QMB2 Q2I8G3 (UniProt | EBI)

Last sequence update: 2011-07-27
Last annotation update: 2024-05-29

Sequence description from provider

RecName: Full=Centrosome-associated protein CEP250;AltName: Full=250 kDa centrosomal protein; Short=Cep250;AltName: Full=Centrosomal Nek2-associated protein 1; Short=C-Nap1;AltName: Full=Centrosomal protein 2;AltName: Full=Intranuclear mat

Provider

SWISS-PROT

Sequence

Polypeptide 2414 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Cep250	centrosomal protein 250	25	100	3	19

Sequence references in MGI

J:36773 Menz K, et al., INMP, a novel intranuclear matrix protein related to the family of intermediate filament-like proteins: molecular cloning and sequence analysis. Biochim Biophys Acta. 1996 Nov 11;1309(1-2):14-20
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:111752 Yang J, et al., Rootletin interacts with C-Nap1 and may function as a physical linker between the pair of centrioles/basal bodies in cells. Mol Biol Cell. 2006 Feb;17(2):1033-40
J:236302 Zhang X, et al., Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex. Cell. 2016 Aug 25;166(5):1147-1162.e15
J:276510 Huang XF, et al., Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa. Hum Mutat. 2019 Apr 18;
J:281252 de Castro-Miro M, et al., Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. PLoS One. 2016;11(12):e0168966
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89