Cep290 Centrosomal protein 290kDa [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: Cep290provided by FlyBase
Official Full Name: Centrosomal protein 290kDaprovided by FlyBase
Primary source: FLYBASE:FBgn0035168
Locus tag: Dmel_CG13889
See related: AllianceGenome:FB:FBgn0035168
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: cep290; CEP290; CG13889; Dmel\CG13889; Q9W0M1_DROME
Summary: Involved in cilium assembly. Located in ciliary basal body; ciliary cap; and ciliary transition zone. Is expressed in scolopidial cilium; spermatid axoneme; and spermatocyte. Human ortholog(s) of this gene implicated in several diseases, including 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, Dec 2024]
Orthologs: all
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Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	3L	NT_037436.4 (843926..851080)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	3L	NT_037436.3 (843926..851080)

Chromosome 3L - NT_037436.4 Genomic Context describing neighboring genes

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

CEP290 is essential for the initiation of ciliary transition zone assembly.
Title: CEP290 is essential for the initiation of ciliary transition zone assembly.

Submit: New GeneRIF Correction

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

Process	Evidence Code	Pubs
involved_in ciliary basal body-plasma membrane docking	IBA Inferred from Biological aspect of Ancestor more info
involved_in ciliary basal body-plasma membrane docking	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ciliary transition zone assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in ciliary transition zone assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytosolic ciliogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in non-motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in centriolar satellite	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary cap	IDA Inferred from Direct Assay more info	PubMed
is_active_in ciliary transition zone	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary transition zone	IDA Inferred from Direct Assay more info	PubMed

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The following sections contain reference sequences that belong to a specific genome build. Explain