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O15078

- CE290_HUMAN

UniProt

O15078 - CE290_HUMAN

Protein

Centrosomal protein of 290 kDa

Gene

CEP290

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition By similarity. Activates ATF4-mediated transcription. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes.By similarity1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. cilium assembly Source: UniProtKB
    2. cilium morphogenesis Source: UniProtKB
    3. establishment or maintenance of cell polarity Source: Ensembl
    4. eye photoreceptor cell development Source: HGNC
    5. G2/M transition of mitotic cell cycle Source: Reactome
    6. hindbrain development Source: HGNC
    7. mitotic cell cycle Source: Reactome
    8. otic vesicle formation Source: HGNC
    9. positive regulation of intracellular protein transport Source: UniProtKB
    10. positive regulation of transcription, DNA-templated Source: HGNC
    11. pronephros development Source: HGNC
    12. protein transport Source: UniProtKB
    13. regulation of cAMP metabolic process Source: Ensembl
    14. regulation of establishment of protein localization Source: MGI
    15. retina development in camera-type eye Source: Ensembl

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Cilium biogenesis/degradation, Protein transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_15296. Recruitment of mitotic centrosome proteins and complexes.
    REACT_15364. Loss of Nlp from mitotic centrosomes.
    REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
    REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Centrosomal protein of 290 kDa
    Short name:
    Cep290
    Alternative name(s):
    Bardet-Biedl syndrome 14 protein
    Cancer/testis antigen 87
    Short name:
    CT87
    Nephrocystin-6
    Tumor antigen se2-2
    Gene namesi
    Name:CEP290
    Synonyms:BBS14, KIAA0373, NPHP6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:29021. CEP290.

    Subcellular locationi

    Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriolar satellite. Nucleus. Cell projectioncilium. Cytoplasmcytoskeletoncilium basal body By similarity
    Note: Connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells. Localizes at the transition zone, a region between the basal body and the ciliary axoneme By similarity. Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock.By similarity

    GO - Cellular componenti

    1. centriolar satellite Source: UniProtKB
    2. centrosome Source: UniProtKB
    3. cytoplasm Source: UniProtKB
    4. cytosol Source: HGNC
    5. membrane Source: UniProtKB
    6. nucleus Source: HGNC
    7. photoreceptor connecting cilium Source: UniProtKB
    8. protein complex Source: MGI
    9. TCTN-B9D complex Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Cytoskeleton, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Joubert syndrome 5 (JBTS5) [MIM:610188]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71W → C in JBTS5 and SLSN6. 2 Publications
    VAR_028356
    Natural varianti534 – 5341E → K in JBTS5. 1 Publication
    VAR_068168
    Senior-Loken syndrome 6 (SLSN6) [MIM:610189]: A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71W → C in JBTS5 and SLSN6. 2 Publications
    VAR_028356
    Leber congenital amaurosis 10 (LCA10) [MIM:611755]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti2263 – 22631S → G Found in a patient with LCA10; unknown pathological significance. 1 Publication
    Corresponds to variant rs77778467 [ dbSNP | Ensembl ].
    VAR_067192
    Meckel syndrome 4 (MKS4) [MIM:611134]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not in the healthy control population.1 Publication
    Bardet-Biedl syndrome 14 (BBS14) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Mental retardation, Nephronophthisis, Obesity, Senior-Loken syndrome

    Organism-specific databases

    MIMi209900. phenotype.
    610188. phenotype.
    610189. phenotype.
    611134. phenotype.
    611755. phenotype.
    Orphaneti110. Bardet-Biedl syndrome.
    2318. Joubert syndrome with oculorenal defect.
    65. Leber congenital amaurosis.
    564. Meckel syndrome.
    3156. Senior-Loken syndrome.
    PharmGKBiPA143485433.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 24792479Centrosomal protein of 290 kDaPRO_0000089464Add
    BLAST

    Post-translational modificationi

    Ubiquitinated. May undergo monoubiquitination; monoubiquitination is inhibited in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, but does not cause it displacement from centriolar satellites.1 Publication

    Keywords - PTMi

    Ubl conjugation

    Proteomic databases

    MaxQBiO15078.
    PaxDbiO15078.
    PRIDEiO15078.

    PTM databases

    PhosphoSiteiO15078.

    Expressioni

    Tissue specificityi

    Ubiquitous. Expressed strongly in placenta and weakly in brain.2 Publications

    Gene expression databases

    ArrayExpressiO15078.
    BgeeiO15078.
    CleanExiHS_CEP290.
    GenevestigatoriO15078.

    Organism-specific databases

    HPAiCAB029995.
    HPA043918.

    Interactioni

    Subunit structurei

    Part of the tectonic-like complex (also named B9 complex) By similarity. Interacts with ATF4 via its N-terminal region. Part of selected centrosomal and microtubule-associated protein complexes. Interacts with IQCB1. Interacts with ZNF423. Interacts with FAM161A. Interacts with RPGR By similarity. Interacts with CEP162. Interacts with CEP131. Associates with microtubule; association to microtubule is reduced in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, in a process that requires p38 MAP kinase signaling.By similarity7 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ZNF423Q2M1K93EBI-1811944,EBI-950016

    Protein-protein interaction databases

    BioGridi123163. 10 interactions.
    DIPiDIP-46541N.
    IntActiO15078. 9 interactions.
    MINTiMINT-4994437.
    STRINGi9606.ENSP00000308021.

    Structurei

    3D structure databases

    ProteinModelPortaliO15078.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili59 – 565507Sequence AnalysisAdd
    BLAST
    Coiled coili598 – 66467Sequence AnalysisAdd
    BLAST
    Coiled coili697 – 931235Sequence AnalysisAdd
    BLAST
    Coiled coili958 – 102770Sequence AnalysisAdd
    BLAST
    Coiled coili1071 – 1498428Sequence AnalysisAdd
    BLAST
    Coiled coili1533 – 158452Sequence AnalysisAdd
    BLAST
    Coiled coili1635 – 2452818Sequence AnalysisAdd
    BLAST

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG12793.
    HOGENOMiHOG000111526.
    HOVERGENiHBG081077.
    InParanoidiO15078.
    KOiK16533.
    OrthoDBiEOG7RNK0B.
    PhylomeDBiO15078.
    TreeFamiTF326911.

    Family and domain databases

    InterProiIPR026201. Cep290.
    [Graphical view]
    PANTHERiPTHR18879. PTHR18879. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O15078-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MPPNINWKEI MKVDPDDLPR QEELADNLLI SLSKVEVNEL KSEKQENVIH     50
    LFRITQSLMK MKAQEVELAL EEVEKAGEEQ AKFENQLKTK VMKLENELEM 100
    AQQSAGGRDT RFLRNEICQL EKQLEQKDRE LEDMEKELEK EKKVNEQLAL 150
    RNEEAENENS KLRRENKRLK KKNEQLCQDI IDYQKQIDSQ KETLLSRRGE 200
    DSDYRSQLSK KNYELIQYLD EIQTLTEANE KIEVQNQEMR KNLEESVQEM 250
    EKMTDEYNRM KAIVHQTDNV IDQLKKENDH YQLQVQELTD LLKSKNEEDD 300
    PIMVAVNAKV EEWKLILSSK DDEIIEYQQM LHNLREKLKN AQLDADKSNV 350
    MALQQGIQER DSQIKMLTEQ VEQYTKEMEK NTCIIEDLKN ELQRNKGAST 400
    LSQQTHMKIQ STLDILKEKT KEAERTAELA EADAREKDKE LVEALKRLKD 450
    YESGVYGLED AVVEIKNCKN QIKIRDREIE ILTKEINKLE LKISDFLDEN 500
    EALRERVGLE PKTMIDLTEF RNSKHLKQQQ YRAENQILLK EIESLEEERL 550
    DLKKKIRQMA QERGKRSATS GLTTEDLNLT ENISQGDRIS ERKLDLLSLK 600
    NMSEAQSKNE FLSRELIEKE RDLERSRTVI AKFQNKLKEL VEENKQLEEG 650
    MKEILQAIKE MQKDPDVKGG ETSLIIPSLE RLVNAIESKN AEGIFDASLH 700
    LKAQVDQLTG RNEELRQELR ESRKEAINYS QQLAKANLKI DHLEKETSLL 750
    RQSEGSNVVF KGIDLPDGIA PSSASIINSQ NEYLIHLLQE LENKEKKLKN 800
    LEDSLEDYNR KFAVIRHQQS LLYKEYLSEK ETWKTESKTI KEEKRKLEDQ 850
    VQQDAIKVKE YNNLLNALQM DSDEMKKILA ENSRKITVLQ VNEKSLIRQY 900
    TTLVELERQL RKENEKQKNE LLSMEAEVCE KIGCLQRFKE MAIFKIAALQ 950
    KVVDNSVSLS ELELANKQYN ELTAKYRDIL QKDNMLVQRT SNLEHLECEN 1000
    ISLKEQVESI NKELEITKEK LHTIEQAWEQ ETKLGNESSM DKAKKSITNS 1050
    DIVSISKKIT MLEMKELNER QRAEHCQKMY EHLRTSLKQM EERNFELETK 1100
    FAELTKINLD AQKVEQMLRD ELADSVSKAV SDADRQRILE LEKNEMELKV 1150
    EVSKLREISD IARRQVEILN AQQQSRDKEV ESLRMQLLDY QAQSDEKSLI 1200
    AKLHQHNVSL QLSEATALGK LESITSKLQK MEAYNLRLEQ KLDEKEQALY 1250
    YARLEGRNRA KHLRQTIQSL RRQFSGALPL AQQEKFSKTM IQLQNDKLKI 1300
    MQEMKNSQQE HRNMENKTLE MELKLKGLEE LISTLKDTKG AQKVINWHMK 1350
    IEELRLQELK LNRELVKDKE EIKYLNNIIS EYERTISSLE EEIVQQNKFH 1400
    EERQMAWDQR EVDLERQLDI FDRQQNEILN AAQKFEEATG SIPDPSLPLP 1450
    NQLEIALRKI KENIRIILET RATCKSLEEK LKEKESALRL AEQNILSRDK 1500
    VINELRLRLP ATAEREKLIA ELGRKEMEPK SHHTLKIAHQ TIANMQARLN 1550
    QKEEVLKKYQ RLLEKAREEQ REIVKKHEED LHILHHRLEL QADSSLNKFK 1600
    QTAWDLMKQS PTPVPTNKHF IRLAEMEQTV AEQDDSLSSL LVKLKKVSQD 1650
    LERQREITEL KVKEFENIKL QLQENHEDEV KKVKAEVEDL KYLLDQSQKE 1700
    SQCLKSELQA QKEANSRAPT TTMRNLVERL KSQLALKEKQ QKALSRALLE 1750
    LRAEMTAAAE ERIISATSQK EAHLNVQQIV DRHTRELKTQ VEDLNENLLK 1800
    LKEALKTSKN RENSLTDNLN DLNNELQKKQ KAYNKILREK EEIDQENDEL 1850
    KRQIKRLTSG LQGKPLTDNK QSLIEELQRK VKKLENQLEG KVEEVDLKPM 1900
    KEKNAKEELI RWEEGKKWQA KIEGIRNKLK EKEGEVFTLT KQLNTLKDLF 1950
    AKADKEKLTL QRKLKTTGMT VDQVLGIRAL ESEKELEELK KRNLDLENDI 2000
    LYMRAHQALP RDSVVEDLHL QNRYLQEKLH ALEKQFSKDT YSKPSISGIE 2050
    SDDHCQREQE LQKENLKLSS ENIELKFQLE QANKDLPRLK NQVRDLKEMC 2100
    EFLKKEKAEV QRKLGHVRGS GRSGKTIPEL EKTIGLMKKV VEKVQRENEQ 2150
    LKKASGILTS EKMANIEQEN EKLKAELEKL KAHLGHQLSM HYESKTKGTE 2200
    KIIAENERLR KELKKETDAA EKLRIAKNNL EILNEKMTVQ LEETGKRLQF 2250
    AESRGPQLEG ADSKSWKSIV VTRMYETKLK ELETDIAKKN QSITDLKQLV 2300
    KEATEREQKV NKYNEDLEQQ IKILKHVPEG AETEQGLKRE LQVLRLANHQ 2350
    LDKEKAELIH QIEANKDQSG AESTIPDADQ LKEKIKDLET QLKMSDLEKQ 2400
    HLKEEIKKLK KELENFDPSF FEEIEDLKYN YKEEVKKNIL LEEKVKKLSE 2450
    QLGVELTSPV AASEEFEDEE ESPVNFPIY 2479
    Length:2,479
    Mass (Da):290,386
    Last modified:October 17, 2006 - v2
    Checksum:i7CA87D53FAF036FC
    GO
    Isoform 2 (identifier: O15078-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-940: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,539
    Mass (Da):180,067
    Checksum:iD901314E981BF001
    GO

    Sequence cautioni

    The sequence AAG34904.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.
    The sequence BAB15196.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.
    The sequence AK023677 differs from that shown. Reason: Frameshift at position 556.
    The sequence BAA20828.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti544 – 5441S → C in AK023677. (PubMed:14702039)Curated
    Sequence conflicti718 – 7181E → G in AK023677. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71W → C in JBTS5 and SLSN6. 2 Publications
    VAR_028356
    Natural varianti277 – 2771E → Q.1 Publication
    Corresponds to variant rs45502896 [ dbSNP | Ensembl ].
    VAR_064397
    Natural varianti534 – 5341E → K in JBTS5. 1 Publication
    VAR_068168
    Natural varianti664 – 6641D → G Found in a patient with Joubert syndrome; unknown pathological significance. 2 Publications
    Corresponds to variant rs79705698 [ dbSNP | Ensembl ].
    VAR_064398
    Natural varianti838 – 8381K → E.1 Publication
    Corresponds to variant rs11104738 [ dbSNP | Ensembl ].
    VAR_031058
    Natural varianti906 – 9061L → W.1 Publication
    Corresponds to variant rs7970228 [ dbSNP | Ensembl ].
    VAR_031059
    Natural varianti1237 – 12371R → H.
    Corresponds to variant rs7307793 [ dbSNP | Ensembl ].
    VAR_031060
    Natural varianti1566 – 15661A → P.1 Publication
    VAR_064399
    Natural varianti1694 – 16941L → P.1 Publication
    VAR_064400
    Natural varianti1836 – 18361I → V.
    Corresponds to variant rs11104729 [ dbSNP | Ensembl ].
    VAR_031061
    Natural varianti2210 – 22101R → C.1 Publication
    VAR_066997
    Natural varianti2228 – 22281N → K.1 Publication
    VAR_064401
    Natural varianti2263 – 22631S → G Found in a patient with LCA10; unknown pathological significance. 1 Publication
    Corresponds to variant rs77778467 [ dbSNP | Ensembl ].
    VAR_067192

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 940940Missing in isoform 2. 1 PublicationVSP_021027Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ109808 mRNA. Translation: AAZ83370.1.
    AB002371 mRNA. Translation: BAA20828.2. Different initiation.
    AC091516 Genomic DNA. No translation available.
    AK023677 mRNA. No translation available.
    AK025632 mRNA. Translation: BAB15196.1. Sequence problems.
    AF273044 mRNA. Translation: AAG34904.1. Sequence problems.
    BK005587 mRNA. Translation: DAA05591.1.
    CCDSiCCDS55858.1. [O15078-1]
    RefSeqiNP_079390.3. NM_025114.3. [O15078-1]
    UniGeneiHs.150444.

    Genome annotation databases

    EnsembliENST00000397838; ENSP00000380938; ENSG00000198707. [O15078-2]
    ENST00000547691; ENSP00000446905; ENSG00000198707. [O15078-2]
    ENST00000552810; ENSP00000448012; ENSG00000198707. [O15078-1]
    GeneIDi80184.
    KEGGihsa:80184.
    UCSCiuc001taq.3. human. [O15078-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    CEP290 Mutation Database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ109808 mRNA. Translation: AAZ83370.1 .
    AB002371 mRNA. Translation: BAA20828.2 . Different initiation.
    AC091516 Genomic DNA. No translation available.
    AK023677 mRNA. No translation available.
    AK025632 mRNA. Translation: BAB15196.1 . Sequence problems.
    AF273044 mRNA. Translation: AAG34904.1 . Sequence problems.
    BK005587 mRNA. Translation: DAA05591.1 .
    CCDSi CCDS55858.1. [O15078-1 ]
    RefSeqi NP_079390.3. NM_025114.3. [O15078-1 ]
    UniGenei Hs.150444.

    3D structure databases

    ProteinModelPortali O15078.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123163. 10 interactions.
    DIPi DIP-46541N.
    IntActi O15078. 9 interactions.
    MINTi MINT-4994437.
    STRINGi 9606.ENSP00000308021.

    PTM databases

    PhosphoSitei O15078.

    Proteomic databases

    MaxQBi O15078.
    PaxDbi O15078.
    PRIDEi O15078.

    Protocols and materials databases

    DNASUi 80184.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000397838 ; ENSP00000380938 ; ENSG00000198707 . [O15078-2 ]
    ENST00000547691 ; ENSP00000446905 ; ENSG00000198707 . [O15078-2 ]
    ENST00000552810 ; ENSP00000448012 ; ENSG00000198707 . [O15078-1 ]
    GeneIDi 80184.
    KEGGi hsa:80184.
    UCSCi uc001taq.3. human. [O15078-1 ]

    Organism-specific databases

    CTDi 80184.
    GeneCardsi GC12M088442.
    GeneReviewsi CEP290.
    H-InvDB HIX0010863.
    HGNCi HGNC:29021. CEP290.
    HPAi CAB029995.
    HPA043918.
    MIMi 209900. phenotype.
    610142. gene.
    610188. phenotype.
    610189. phenotype.
    611134. phenotype.
    611755. phenotype.
    neXtProti NX_O15078.
    Orphaneti 110. Bardet-Biedl syndrome.
    2318. Joubert syndrome with oculorenal defect.
    65. Leber congenital amaurosis.
    564. Meckel syndrome.
    3156. Senior-Loken syndrome.
    PharmGKBi PA143485433.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG12793.
    HOGENOMi HOG000111526.
    HOVERGENi HBG081077.
    InParanoidi O15078.
    KOi K16533.
    OrthoDBi EOG7RNK0B.
    PhylomeDBi O15078.
    TreeFami TF326911.

    Enzyme and pathway databases

    Reactomei REACT_15296. Recruitment of mitotic centrosome proteins and complexes.
    REACT_15364. Loss of Nlp from mitotic centrosomes.
    REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
    REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

    Miscellaneous databases

    GeneWikii CEP290.
    GenomeRNAii 80184.
    NextBioi 70527.
    PROi O15078.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O15078.
    Bgeei O15078.
    CleanExi HS_CEP290.
    Genevestigatori O15078.

    Family and domain databases

    InterProi IPR026201. Cep290.
    [Graphical view ]
    PANTHERi PTHR18879. PTHR18879. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH ATF4, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN JBTS5 AND SLSN6.
    2. "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
      Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    3. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1058 (ISOFORM 1).
      Tissue: Hepatoma and Placenta.
    5. "Serological detection of cutaneous T-cell lymphoma-associated antigens."
      Eichmueller S., Usener D., Dummer R., Stein A., Thiel D., Schadendorf D.
      Proc. Natl. Acad. Sci. U.S.A. 98:629-634(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1616-2382, TISSUE SPECIFICITY, DISEASE.
      Tissue: Testis.
    6. "Proteomic characterization of the human centrosome by protein correlation profiling."
      Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M.
      Nature 426:570-574(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION, SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Lymphoblast.
    7. Cited for: INVOLVEMENT IN LCA10.
    8. Cited for: INTERACTION WITH CC2D2A.
    9. "Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome."
      Leitch C.C., Zaghloul N.A., Davis E.E., Stoetzel C., Diaz-Font A., Rix S., Alfadhel M., Lewis R.A., Eyaid W., Banin E., Dollfus H., Beales P.L., Badano J.L., Katsanis N.
      Nat. Genet. 40:443-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN BBS14.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. Cited for: SUBCELLULAR LOCATION, INTERACTION WITH IQCB1.
    12. "Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling."
      Chaki M., Airik R., Ghosh A.K., Giles R.H., Chen R., Slaats G.G., Wang H., Hurd T.W., Zhou W., Cluckey A., Gee H.Y., Ramaswami G., Hong C.J., Hamilton B.A., Cervenka I., Ganji R.S., Bryja V., Arts H.H.
      , van Reeuwijk J., Oud M.M., Letteboer S.J., Roepman R., Husson H., Ibraghimov-Beskrovnaya O., Yasunaga T., Walz G., Eley L., Sayer J.A., Schermer B., Liebau M.C., Benzing T., Le Corre S., Drummond I., Janssen S., Allen S.J., Natarajan S., O'Toole J.F., Attanasio M., Saunier S., Antignac C., Koenekoop R.K., Ren H., Lopez I., Nayir A., Stoetzel C., Dollfus H., Massoudi R., Gleeson J.G., Andreoli S.P., Doherty D.G., Lindstrad A., Golzio C., Katsanis N., Pape L., Abboud E.B., Al-Rajhi A.A., Lewis R.A., Omran H., Lee E.Y., Wang S., Sekiguchi J.M., Saunders R., Johnson C.A., Garner E., Vanselow K., Andersen J.S., Shlomai J., Nurnberg G., Nurnberg P., Levy S., Smogorzewska A., Otto E.A., Hildebrandt F.
      Cell 150:533-548(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH ZNF423.
    13. "FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies."
      Di Gioia S.A., Letteboer S.J., Kostic C., Bandah-Rozenfeld D., Hetterschijt L., Sharon D., Arsenijevic Y., Roepman R., Rivolta C.
      Hum. Mol. Genet. 21:5174-5184(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH FAM161A.
    14. Cited for: INTERACTION WITH CEP131, SUBCELLULAR LOCATION.
    15. "A new cellular stress response that triggers centriolar satellite reorganization and ciliogenesis."
      Villumsen B.H., Danielsen J.R., Povlsen L., Sylvestersen K.B., Merdes A., Beli P., Yang Y.G., Choudhary C., Nielsen M.L., Mailand N., Bekker-Jensen S.
      EMBO J. 32:3029-3040(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: UBIQUITINATION, ASSOCIATION WITH MICROTUBULE, SUBCELLULAR LOCATION.
    16. "CEP162 is an axoneme-recognition protein promoting ciliary transition zone assembly at the cilia base."
      Wang W.J., Tay H.G., Soni R., Perumal G.S., Goll M.G., Macaluso F.P., Asara J.M., Amack J.D., Bryan Tsou M.F.
      Nat. Cell Biol. 15:591-601(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CEP162.
    17. Cited for: VARIANT JBTS5 CYS-7.
    18. Cited for: INVOLVEMENT IN MKS4.
    19. Cited for: VARIANTS GLN-277; GLY-664; GLU-838; TRP-906 AND LYS-2228.
    20. "Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome."
      Helou J., Otto E.A., Attanasio M., Allen S.J., Parisi M.A., Glass I., Utsch B., Hashmi S., Fazzi E., Omran H., O'Toole J.F., Sayer J.A., Hildebrandt F.
      J. Med. Genet. 44:657-663(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLY-664.
    21. "Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes."
      Coppieters F., Casteels I., Meire F., De Jaegere S., Hooghe S., van Regemorter N., Van Esch H., Matuleviciene A., Nunes L., Meersschaut V., Walraedt S., Standaert L., Coucke P., Hoeben H., Kroes H.Y., Vande Walle J., de Ravel T., Leroy B.P., De Baere E.
      Hum. Mutat. 31:E1709-E1766(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PRO-1566 AND PRO-1694, VARIANT SLSN6 CYS-7.
    22. "B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis."
      Hopp K., Heyer C.M., Hommerding C.J., Henke S.A., Sundsbak J.L., Patel S., Patel P., Consugar M.B., Czarnecki P.G., Gliem T.J., Torres V.E., Rossetti S., Harris P.C.
      Hum. Mol. Genet. 20:2524-2534(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CYS-2210, SUBCELLULAR LOCATION.
    23. "Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis."
      Li L., Xiao X., Li S., Jia X., Wang P., Guo X., Jiao X., Zhang Q., Hejtmancik J.F.
      PLoS ONE 6:E19458-E19458(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLY-2263.
    24. Cited for: VARIANT JBTS5 LYS-534.

    Entry informationi

    Entry nameiCE290_HUMAN
    AccessioniPrimary (citable) accession number: O15078
    Secondary accession number(s): Q1PSK5
    , Q66GS8, Q9H2G6, Q9H6Q7, Q9H8I0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 131 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3