Q9W0M1 · CE290_DROME
- ProteinCentrosomal protein Cep290
- GeneCep290
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids1978 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Essential for ciliogenesis in sensory neurons and spermatocytes (PubMed:25447994, PubMed:30013109, PubMed:31821146, PubMed:33370260).
During neuron and spermatocyte ciliogenesis, essential for initiating transition zone (TZ) assembly and is required for the formation of diverse connections between microtubules and between microtubules and the membrane (PubMed:25447994, PubMed:30013109, PubMed:31821146, PubMed:33370260).
Regulates TZ assembly by recruiting DZIP1 to the plasma membrane where it promotes early ciliary membrane formation resulting in the initiation of TZ assembly (PubMed:31821146, PubMed:33370260).
During neuron and spermatocyte ciliogenesis, essential for initiating transition zone (TZ) assembly and is required for the formation of diverse connections between microtubules and between microtubules and the membrane (PubMed:25447994, PubMed:30013109, PubMed:31821146, PubMed:33370260).
Regulates TZ assembly by recruiting DZIP1 to the plasma membrane where it promotes early ciliary membrane formation resulting in the initiation of TZ assembly (PubMed:31821146, PubMed:33370260).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | centriolar satellite | |
Cellular Component | centriole | |
Cellular Component | ciliary basal body | |
Cellular Component | ciliary cap | |
Cellular Component | ciliary transition zone | |
Cellular Component | cytoplasm | |
Biological Process | ciliary basal body-plasma membrane docking | |
Biological Process | ciliary transition zone assembly | |
Biological Process | cilium assembly | |
Biological Process | cytosolic ciliogenesis | |
Biological Process | non-motile cilium assembly |
Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameCentrosomal protein Cep290
Gene names
Organism names
- Strain
- Taxonomic lineageEukaryota > Metazoa > Ecdysozoa > Arthropoda > Hexapoda > Insecta > Pterygota > Neoptera > Endopterygota > Diptera > Brachycera > Muscomorpha > Ephydroidea > Drosophilidae > Drosophila > Sophophora
Accessions
- Primary accessionQ9W0M1
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Localizes at the transition zone (TZ), a region between the basal body and the ciliary axoneme in the olfactory, auditory and spermatocyte system (PubMed:30013109, PubMed:33370260).
In sensory neurons, localizes to the transition zone at the tip of the mother centriole (PubMed:25447994).
In germ cells, component of the spermatocyte primary cilium and spermatid ciliary cap (PubMed:25447994, PubMed:27577095, PubMed:27646273).
In sensory neurons, localizes to the transition zone at the tip of the mother centriole (PubMed:25447994).
In germ cells, component of the spermatocyte primary cilium and spermatid ciliary cap (PubMed:25447994, PubMed:27577095, PubMed:27646273).
Keywords
- Cellular component
Phenotypes & Variants
Disruption phenotype
Adults are severely uncoordinated and exhibit disorganized spermatid cysts with dispersed nuclei, likely as a consequence of the severe defects in axonemal elongation (PubMed:31821146).
RNAi-mediated knockdown in developing sensory neurons results in defective microtubule (MT)-microtubule (MT) and microtubule-membrane connections (Y linkers) ultimately affecting cilia formation leading to olfactory and gravitaxis behavioral defects (PubMed:30013109).
RNAi-mediated knockdown in spermatocytes results in defective transition zone assembly including increased distance between microtubules (MT) and MT-membrane causing defective cilia (PubMed:30013109).
RNAi-mediated knockdown in developing sensory neurons results in defective microtubule (MT)-microtubule (MT) and microtubule-membrane connections (Y linkers) ultimately affecting cilia formation leading to olfactory and gravitaxis behavioral defects (PubMed:30013109).
RNAi-mediated knockdown in spermatocytes results in defective transition zone assembly including increased distance between microtubules (MT) and MT-membrane causing defective cilia (PubMed:30013109).
Features
Showing features for mutagenesis.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Mutagenesis | 1-650 | In CEP290-M; abolishes cilium basal body localization; when associated with 1385-G--E-1978. | |||
Mutagenesis | 1-1384 | In CEP290-C; no effect on cilium basal body localization. | |||
Mutagenesis | 157-1978 | In CEP290-1; in olfactory and auditory neurons, transition zones (TZ) fail to form leading to the disassociation of the basal bodies from plasma membrane at later stages cliliogenesis, abnormal elongation of the axoneme and consequently complete loss of cilia. As a consequence, adults are uncoordinated and have severe defects in touch and hearing. In testes, flagellar axonemes are almost completely lost and sperm cyst elongation is severely defective. As a consequence, mature sperms do not develop and so males are completely infertile. | |||
Mutagenesis | 651-1978 | In CEP290-N; no effect on cilium basal body localization however expression in more restricted within the transition zone of auditory cilia. When overexpressed in CEP290-1 mutants, rescues defects in ciliogenesis, basal body docking, transition zone (TZ) assembly, and recruitment of DZP1 and Mks1 to the TZ. It does not rescue uncoordination. | |||
Mutagenesis | 1385-1978 | In CEP290-N+M; no effect on cilium basal body localization. In CEP290-M; abolishes cilium basal body localization; when associated with 1-M--E-650. | |||
Mutagenesis | 1386-1978 | In olfactory and auditory neurons, transition zones (TZ) fail to form, ciliary axonemes are lost and DZIP1 expression is significantly reduced resulting in uncoordination and severe defects in touch and hearing. No effect on connection between the basal bodies and plasma membrane. Mild defects in spermatid development and male fertility. In spermatocyte cilia there is no significant reduction in DZIP1 expression. | |||
Mutagenesis | 1472-1978 | Results in motor defects including crossed legs and inability to stand or hold wings erect. In sensory neurons, results in failure to form a transition zone. In cilia, shows severe proprioception defects including defective mechanoreceptor current (MRC) but normal transepithelial potential (TEP). In germ cells, results in defective transition zone assembly and ciliary cap structure; the defects include increased distance between microtubules (MT) and between MT and membrane and it is associated with longer cilium basal body. This leads to ultrastructural axoneme defects without compromising the attachment of spermatocyte centrioles to the membrane. | |||
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Chain | PRO_0000445799 | 1-1978 | Centrosomal protein Cep290 | ||
Proteomic databases
Expression
Tissue specificity
Expressed in sensory neurons type I and in germ cells (at protein level).
Gene expression databases
Interaction
Subunit
Interacts (via N-terminus) with DZIP1.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | IntAct | |
---|---|---|---|---|---|
BINARY | Q9W0M1 | DZIP1 Q9VC70 | 3 | EBI-92679, EBI-134631 |
Complex viewer
Protein-protein interaction databases
Structure
Family & Domains
Features
Showing features for region, coiled coil, compositional bias.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Region | 1-650 | Necessary and sufficient for function in ciliogenesis, transition zone (TZ) assembly, and recruitment of DZP1 and Mks1 to the TZ. Also required for subcellular localization to the cilium basal body | |||
Coiled coil | 76-384 | ||||
Region | 271-296 | Disordered | |||
Compositional bias | 274-291 | Polar residues | |||
Coiled coil | 471-505 | ||||
Region | 663-688 | Disordered | |||
Coiled coil | 853-887 | ||||
Coiled coil | 922-970 | ||||
Coiled coil | 1192-1233 | ||||
Region | 1313-1397 | Disordered | |||
Compositional bias | 1327-1343 | Polar residues | |||
Compositional bias | 1344-1367 | Basic and acidic residues | |||
Coiled coil | 1405-1439 | ||||
Coiled coil | 1501-1654 | ||||
Region | 1684-1714 | Disordered | |||
Coiled coil | 1726-1935 | ||||
Region | 1859-1884 | Disordered | |||
Domain
The C-terminus orients towards the microtubules and the N-terminus orients towards the membrane in a 9-fold symmetric manner.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length1,978
- Mass (Da)227,962
- Last updated2001-03-01 v2
- Checksum5FFEEF7F9B22977D
Features
Showing features for sequence conflict, compositional bias.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Sequence conflict | 79 | in Ref. 3; AAM12244 | |||
Compositional bias | 274-291 | Polar residues | |||
Sequence conflict | 340 | in Ref. 3; AAM12244 | |||
Sequence conflict | 649 | in Ref. 3; AAM12244 | |||
Sequence conflict | 829 | in Ref. 3; AAM12244 | |||
Sequence conflict | 942 | in Ref. 3; AAM12244 | |||
Sequence conflict | 1035 | in Ref. 3; AAM12244 | |||
Compositional bias | 1327-1343 | Polar residues | |||
Compositional bias | 1344-1367 | Basic and acidic residues | |||
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AE014296 EMBL· GenBank· DDBJ | AAF47422.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AE014296 EMBL· GenBank· DDBJ | AGB93922.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AY095510 EMBL· GenBank· DDBJ | AAM12244.1 EMBL· GenBank· DDBJ | mRNA |