Q9W0M1 · CE290_DROME

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).

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentcentriolar satellite
Cellular Componentcentriole
Cellular Componentciliary basal body
Cellular Componentciliary cap
Cellular Componentciliary transition zone
Cellular Componentcytoplasm
Biological Processciliary basal body-plasma membrane docking
Biological Processciliary transition zone assembly
Biological Processcilium assembly
Biological Processcytosolic ciliogenesis
Biological Processnon-motile cilium assembly

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Centrosomal protein Cep290

Gene names

    • Name
      Cep290
    • ORF names
      CG13889

Organism names

  • Taxonomic identifier
  • Strain
    • Berkeley
  • Taxonomic lineage
    Eukaryota > Metazoa > Ecdysozoa > Arthropoda > Hexapoda > Insecta > Pterygota > Neoptera > Endopterygota > Diptera > Brachycera > Muscomorpha > Ephydroidea > Drosophilidae > Drosophila > Sophophora

Accessions

  • Primary accession
    Q9W0M1
  • Secondary accessions
    • Q8T3H8

Proteomes

Organism-specific databases

Subcellular Location

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).

Keywords

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).

Features

Showing features for mutagenesis.

TypeIDPosition(s)Description
Mutagenesis1-650In CEP290-M; abolishes cilium basal body localization; when associated with 1385-G--E-1978.
Mutagenesis1-1384In CEP290-C; no effect on cilium basal body localization.
Mutagenesis157-1978In 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.
Mutagenesis651-1978In 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.
Mutagenesis1385-1978In 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.
Mutagenesis1386-1978In 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.
Mutagenesis1472-1978Results 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.

TypeIDPosition(s)Description
ChainPRO_00004457991-1978Centrosomal 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

TypeEntry 1Entry 2Number of experimentsIntAct
BINARY Q9W0M1DZIP1 Q9VC703EBI-92679, EBI-134631

Complex viewer

Protein-protein interaction databases

Structure

Family & Domains

Features

Showing features for region, coiled coil, compositional bias.

Type
IDPosition(s)Description
Region1-650Necessary 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 coil76-384
Region271-296Disordered
Compositional bias274-291Polar residues
Coiled coil471-505
Region663-688Disordered
Coiled coil853-887
Coiled coil922-970
Coiled coil1192-1233
Region1313-1397Disordered
Compositional bias1327-1343Polar residues
Compositional bias1344-1367Basic and acidic residues
Coiled coil1405-1439
Coiled coil1501-1654
Region1684-1714Disordered
Coiled coil1726-1935
Region1859-1884Disordered

Domain

The C-terminus orients towards the microtubules and the N-terminus orients towards the membrane in a 9-fold symmetric manner.

Keywords

Phylogenomic databases

Family and domain databases

Sequence

  • Sequence status
    Complete
  • Length
    1,978
  • Mass (Da)
    227,962
  • Last updated
    2001-03-01 v2
  • Checksum
    5FFEEF7F9B22977D
MSMDIPETVSLRKFRDFSARQKQELYETLLELAESIDELPKKSLRKTLELTLAVLEYKGEQVQQLQESAAGGLSSDRRLQDENEKLKRMLQKLEDERDGLKSKAKELGEEIRQLELRLQEAAQQAEISDKDSSDPLSELDKQEQLLQNIDSKNKHIKRLLKEIETLQNQNIAQSKTIVLHERELQTIKANLVQLSQDITKVEQERKSLKQKEQQQALEITRLEGNLTFLEVEREKQEVEMRQFLDKYEAKSLGWRQALDDRDKEVERLKKQLEGKSISSGQTNSSNSQSQQEEEHAKLRQLLESREQRIEKLEEKIKSMAEEMVSSTRAMNQLCQEKERAHDPEQPRACCQMIEERLREATARCQQLSEMLEAAEQDNVLKSQQALHAISALEAYKRDEDGLIPALRRCSGLEQKVAARDKQLRAYIQELNSLHEVVQENELLRRKLHIPDDVVIMAKNVHSKQRNKDKQIERLTLKLRTSEELRLQLKLEKSELRRKLLELQQDSPQTLNESLQAPSEVGEVPHSVHLENSPRRGQGDGAASSEMQNRYDEVLAENETLRSGMYEILEKLREYDATSEHITIDSDLLRRLIEALPGGTTTPQRLQGQLLELKAREEALRQLLEQQNYSDSETGELSSVHSLCEVPEIAEEHPVEEDAVLNTATRPSSPTEATMGLRRPTVPDPEEKPTNEALAELSILRKHYDELRLHMSADGSDLMNRNQELHDQMIALELQLEQQRNSYSYMRRDYDQLLTETRKQELRFIDDKASLARQLEHSKSELCEAREELEQVNRRNLYTAEEQQKLEHRNAILSMQLGQAMEQLLGELKPTEICAEYGIIRENYQLDYITAQDFEEQQQELLTWRSKQAELQRETKQLEGLLHVANEQIHSQQRLLNEITDNHINLRHLVADLQSSSDEKLMLAKVQRDLDSVKAECSRLETEREKLQLKADCLQTQLEASELSLKQTQQDFQQERTNSDIKHKFLQHSLFMLKDKYAKFTPLVFLTNFVFAYQKFQRRLEEEQVQQRHRDHTALIDEVTAVVQAKIGLNEESSQQLVKLIKSETQTRLLEQRCEILQAKQEELVRELGELRMSQATDTEHWSTIQALFGEGEPRSQLKVDAETNTDAVAPNLAMRRAVQLIDRESSPIGSPLRKHPHLDTATQTLEAQVEFSETAVQTNGILSQQNQAVQTADAVEDNRRDSRAELQKMQETLQEANQRIEILGKQLEASRSESRESASPQGGVVEKTILSFHTLLLEKDQSIQKYQDLLQTERDQSQQALSKQVAENESLRATVNNLNFNIKTKDAEIQGLKEKLRQKPEVPVERNPSTDSRSSSSSDSSVNELTDEKIEELFESSSVERPPQEELEVPVEAGPENIVTEEPEGEEEKQDTEELKEVPTLHKQIKDLKDKLEYSERSLKTREEEVDILKEKLKLCQEREKSVESTVNPELDQLRIFLDEKDKHIKDLMDTLKNFHDDQQRYIKDTSNFSEDQIAKLAADLNRTEATNKIYHTQMEALRRQLANVTQREKQARDLSQSLRQQLLKRPVVSIKTELNARVKNENQLKRIQQLELDLDEARGQLQRQQTLLEAKRTRSANEVQLWEKQKRYQQQAEKTKARLEETELALEKTRALLQAARTTIARLEKDKQILESKLGRNGPPSNSSGGNNLKCCRTPSCPNLQHVGVSKFAPSPSESPETYTGPSSECSSPAHHHTQIFDQSQLDLIEALKSRIELQQRKIIAMELEGRGSNALTTELEKLQERCQAIEAQNIRLEARNLQLQLDSDLLRQGDSSDRLQKRIKHLEDYIMALKEEMARNESRRELGSGLKVSTNQGQSAEQTILSLRNLVEKLRSENKFLKDGRRSTESRSSMDSTPAEAARLQQQHAEALEKISALQQELQKRTTKCSQCGGRSKDAANEELKFIKEQLVKKTQLLQKAKVLLTRAAAKEKVLREQLALWKRKCSELQNVPVIDEISE

Features

Showing features for sequence conflict, compositional bias.

Type
IDPosition(s)Description
Sequence conflict79in Ref. 3; AAM12244
Compositional bias274-291Polar residues
Sequence conflict340in Ref. 3; AAM12244
Sequence conflict649in Ref. 3; AAM12244
Sequence conflict829in Ref. 3; AAM12244
Sequence conflict942in Ref. 3; AAM12244
Sequence conflict1035in Ref. 3; AAM12244
Compositional bias1327-1343Polar residues
Compositional bias1344-1367Basic and acidic residues

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
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

Genome annotation databases

Similar Proteins

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.
We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.
Help