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MIRAGE
Centrosomal protein of 290 kDa
Summary
- UniProt ID
- Q6A078
- Gene Symbol
-
- Cep290
- Kiaa0373
- Nphp6
- Gene ID
- 216274
- Organism
- Mus musculus (house mouse)
Annotation
- Keyword
-
- Activator
- Alternative splicing
- Cilium
- Cilium biogenesis/degradation
- Coiled coil
- Cytoplasmic vesicle
- Cytoskeleton
- Nucleus
- Protein transport
- Reference proteome
- Transcription regulation
- Ubl conjugation
- Gene Ontology (GO)
| GO Term |
|---|
| cytoplasmic vesicle |
| protein-containing complex |
| cytosol |
| photoreceptor outer segment |
| centrosome |
| centriole |
| photoreceptor connecting cilium |
| ciliary transition zone |
| rod photoreceptor outer segment |
| centriolar satellite |
Sequence
MPPNIKWKELIKVDPDDLPRQEELADKLLISLSKVEVNELKNEDQENMIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRDEIRQLEKQLEQKDRELEDMEKELDKEKKVNEQLALRNEEAENENSKLRRENEQLRQDIIDYQKQIDSQKESLLSRRGEDSDYRSQLSKKNYELVQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKALVHQSDAVMDQIKKENEHYRLQVRELTDLLKAKDEEDDPVMMAVNAKVEEWKLILSSKDDEIIEYQQMLQSLRGKLKNAQLDADKSNIMALKQGIQERDSQIKMLTEQVEQYTKEMEKNTFIIEDLKNELQKDKGTSNFYQQTHYMKIHSKVQILEEKTKEAERIAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVIEIKNCKAQIKIRDGEMEVLTKEINKLEMKINDILDENEALRERAGLEPKTMIDLTEFRNSKRLKQQQYRAENQVLLKEIESLEEERLDLKRKIRQMAQERGKRNAASGLTIDDLNLSETFSHENKIEGRKLNFMSLNNMNETQSKNEFLSRELAEKEKDLERSRTVIAKFQSKLKELVEENKQLEEGMKEILQAIKDMPKDSDVKGGETSLIIPSLERLVNAMESKNAEGIFDASLHLKAQVDQLTGRNEELRQELRQSRKEAVNYSQQLVKANLKIDHLEKETDLLRQSAGSNVVYKGIDLPDGIAPSSAYIINSQNEYLIHLLQELDNKEKKLKHLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKDIWKTDSEMIREEKRKLEDQAEQDAVKVKEYNNLLSALQMDSNEMKKMLSENSRKITVLQVNEKSLIRQYTTLVEMERHLRKENGKHRNDVIAMEAEVTEKLGSLQRFKEMAIFKIAALQKVIDNSVSLSELELANKQYNELTTKYRDILQKDNMLVQRTSNLEHLECENASLKEQMEAISKELEITKEKLHTIEQAWEQETKLGNDSNMDKAKKSMTNSDIVSISKKITVLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFTELTKINLDAQKVEQMLRDELADSVTKAVSDADRQRILELEKSEVELKVEVSKLREISDIAKRQVDFLNSQQQSREKEVESLRTQLLDFQAQSDEKALIAKLHQHVVSLQISEATALGKLESVTSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLELELKLKGLEELISTLKDARGAQKVINWHVKIEELRLQELKLNRELVKGKEEIKYLNNIISEYEHTINSLEEEIVQQSKFHEERQMAWDQREVELERQLDIFDHQQNEILSAAQKFEDSTGSMPDPSLPLPNQLEIALRKIKENIQVILKTQATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATADREKLIAELERKELEPKSHHTMKIAHQTIANMQARLNHKEEVLKKYQHLLEKAREEQREIVKKHEEDLHVLHHKLEQQADNSLNKFRQTAQDLLKQSPAPVPTNKHFIRLAEMEQTVAEQDDSLSSLLTKLKKVSKDLEKQKEITELKVREFENTKLRLQETHASEVKKVKAEVEDLRHALAQAHKDSQSLKSELQAQKEANSRAPTTTMRNLVDRLKSQLALKEKQQKALSRALLELRSEMTAAAEERIIAVTSQKEANLNVQQVVERHTRELKSQIEDLNENLLKLKEALKTSKNKENSLADDLNELNNELQKKQKAYNKILREKDGIDQENDELRRQIKRLSSGLQSKTLIDNKQSLIDELQKKVKKLESQLERKVDDVDIKPVKEKSSKEELIRWEEGKKWQTKVEGLRNRLKEKEGEAHGLAKQLNTLKELFAKADKEKLTLQKKLKTTGMTVDQVLGVRALESEKELEELKKKNLDLENDILYMRTQQALPRDSVVEDLHLQNKYLQEKLHTLEKKLSKEKYSQSLTSEIESDDHCQKEQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVKDLKEMCEFLKKGKLELERKLGQVRGAGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMATIEEENRNLKAELEKLKAHFGRQLSMQFESKNKGTEKIVAENERLRKELKKEIEASEKLRIAKNNLELVNDKMAAQLEETGKRLQFAESRAPQLEGADSKSWKSIVVSRVYETKMKELESDIAKKNQSITDLKQLVREATEREQKAKKYTEDLEQQIEILKNVPEGAETEQELIRELQLLRLANNQMDKERAELIHQIEINKDQTRADSSIPDSDQLKEKINDLETQLRKLELEKQHSKEEVKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKLKKLSEQFGFELPSPLAASEHSEDGESPHSFPIY
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 692 |
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| AURKA Activation by TPX2 | Mus musculus |
| Anchoring of the basal body to the plasma membrane | Mus musculus |
| Loss of Nlp from mitotic centrosomes | Mus musculus |
| Loss of proteins required for interphase microtubule organization from the centrosome | Mus musculus |
| Neutrophil degranulation | Mus musculus |
| Recruitment of NuMA to mitotic centrosomes | Mus musculus |
| Recruitment of mitotic centrosome proteins and complexes | Mus musculus |
| Regulation of PLK1 Activity at G2/M Transition | Mus musculus |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050545 | visceral heterotaxy | |
| DOID:0110291 | Leber congenital amaurosis 10 | |
| DOID:0111000 | Joubert syndrome 5 | |
| DOID:2975 | cystic kidney disease |
