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O15078 (CE290_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 126. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:CEP290
Synonyms:BBS14, KIAA0373, NPHP6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2479 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1

Subunit structure

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 KIAA1009/CEP162. Ref.1 Ref.8 Ref.11 Ref.12 Ref.13 Ref.14

Subcellular location

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. 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. Ref.1 Ref.6 Ref.11 Ref.20

Tissue specificity

Ubiquitous. Expressed strongly in placenta and weakly in brain. Ref.1 Ref.5

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.5 Ref.15 Ref.22

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.5 Ref.19

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.7

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.16

Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not in the healthy control population. Ref.5

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.9

Sequence caution

The sequence AAG34904.1 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.

The sequence BAB15196.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
Protein transport
Transport
   Cellular componentCell projection
Cilium
Cytoplasm
Cytoskeleton
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseBardet-Biedl syndrome
Ciliopathy
Disease mutation
Joubert syndrome
Leber congenital amaurosis
Meckel syndrome
Mental retardation
Nephronophthisis
Obesity
Senior-Loken syndrome
   DomainCoiled coil
   Molecular functionActivator
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processG2/M transition of mitotic cell cycle

Traceable author statement. Source: Reactome

cilium assembly

Inferred from sequence or structural similarity. Source: UniProtKB

cilium morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

establishment or maintenance of cell polarity

Inferred from electronic annotation. Source: Ensembl

eye photoreceptor cell development

Inferred from sequence or structural similarity Ref.1. Source: HGNC

hindbrain development

Inferred from sequence or structural similarity Ref.1. Source: HGNC

mitotic cell cycle

Traceable author statement. Source: Reactome

otic vesicle formation

Inferred from sequence or structural similarity Ref.1. Source: HGNC

positive regulation of transcription, DNA-templated

Inferred from direct assay Ref.1. Source: HGNC

pronephros development

Inferred from sequence or structural similarity Ref.1. Source: HGNC

protein transport

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of cAMP metabolic process

Inferred from electronic annotation. Source: Ensembl

retina development in camera-type eye

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentTCTN-B9D complex

Inferred from sequence or structural similarity. Source: UniProtKB

centrosome

Inferred from direct assay Ref.6PubMed 21399614. Source: UniProtKB

cytoplasm

Inferred from direct assay Ref.6. Source: UniProtKB

cytosol

Inferred from direct assay Ref.1. Source: HGNC

nucleus

Inferred from direct assay Ref.1. Source: HGNC

photoreceptor connecting cilium

Inferred from sequence or structural similarity Ref.1. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

ZNF423Q2M1K93EBI-1811944,EBI-950016

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O15078-1)

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.
Isoform 2 (identifier: O15078-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-940: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 24792479Centrosomal protein of 290 kDa
PRO_0000089464

Regions

Coiled coil59 – 565507 Potential
Coiled coil598 – 66467 Potential
Coiled coil697 – 931235 Potential
Coiled coil958 – 102770 Potential
Coiled coil1071 – 1498428 Potential
Coiled coil1533 – 158452 Potential
Coiled coil1635 – 2452818 Potential

Natural variations

Alternative sequence1 – 940940Missing in isoform 2.
VSP_021027
Natural variant71W → C in JBTS5 and SLSN6. Ref.15 Ref.19
VAR_028356
Natural variant2771E → Q. Ref.17
Corresponds to variant rs45502896 [ dbSNP | Ensembl ].
VAR_064397
Natural variant5341E → K in JBTS5. Ref.22
VAR_068168
Natural variant6641D → G Found in a patient with Joubert syndrome; unknown pathological significance. Ref.17 Ref.18
Corresponds to variant rs79705698 [ dbSNP | Ensembl ].
VAR_064398
Natural variant8381K → E. Ref.17
Corresponds to variant rs11104738 [ dbSNP | Ensembl ].
VAR_031058
Natural variant9061L → W. Ref.17
Corresponds to variant rs7970228 [ dbSNP | Ensembl ].
VAR_031059
Natural variant12371R → H.
Corresponds to variant rs7307793 [ dbSNP | Ensembl ].
VAR_031060
Natural variant15661A → P. Ref.19
VAR_064399
Natural variant16941L → P. Ref.19
VAR_064400
Natural variant18361I → V.
Corresponds to variant rs11104729 [ dbSNP | Ensembl ].
VAR_031061
Natural variant22101R → C. Ref.20
VAR_066997
Natural variant22281N → K. Ref.17
VAR_064401
Natural variant22631S → G Found in a patient with LCA10; unknown pathological significance. Ref.21
Corresponds to variant rs77778467 [ dbSNP | Ensembl ].
VAR_067192

Experimental info

Sequence conflict5441S → C in AK023677. Ref.4
Sequence conflict7181E → G in AK023677. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 17, 2006. Version 2.
Checksum: 7CA87D53FAF036FC

FASTA2,479290,386
        10         20         30         40         50         60 
MPPNINWKEI MKVDPDDLPR QEELADNLLI SLSKVEVNEL KSEKQENVIH LFRITQSLMK 

        70         80         90        100        110        120 
MKAQEVELAL EEVEKAGEEQ AKFENQLKTK VMKLENELEM AQQSAGGRDT RFLRNEICQL 

       130        140        150        160        170        180 
EKQLEQKDRE LEDMEKELEK EKKVNEQLAL RNEEAENENS KLRRENKRLK KKNEQLCQDI 

       190        200        210        220        230        240 
IDYQKQIDSQ KETLLSRRGE DSDYRSQLSK KNYELIQYLD EIQTLTEANE KIEVQNQEMR 

       250        260        270        280        290        300 
KNLEESVQEM EKMTDEYNRM KAIVHQTDNV IDQLKKENDH YQLQVQELTD LLKSKNEEDD 

       310        320        330        340        350        360 
PIMVAVNAKV EEWKLILSSK DDEIIEYQQM LHNLREKLKN AQLDADKSNV MALQQGIQER 

       370        380        390        400        410        420 
DSQIKMLTEQ VEQYTKEMEK NTCIIEDLKN ELQRNKGAST LSQQTHMKIQ STLDILKEKT 

       430        440        450        460        470        480 
KEAERTAELA EADAREKDKE LVEALKRLKD YESGVYGLED AVVEIKNCKN QIKIRDREIE 

       490        500        510        520        530        540 
ILTKEINKLE LKISDFLDEN EALRERVGLE PKTMIDLTEF RNSKHLKQQQ YRAENQILLK 

       550        560        570        580        590        600 
EIESLEEERL DLKKKIRQMA QERGKRSATS GLTTEDLNLT ENISQGDRIS ERKLDLLSLK 

       610        620        630        640        650        660 
NMSEAQSKNE FLSRELIEKE RDLERSRTVI AKFQNKLKEL VEENKQLEEG MKEILQAIKE 

       670        680        690        700        710        720 
MQKDPDVKGG ETSLIIPSLE RLVNAIESKN AEGIFDASLH LKAQVDQLTG RNEELRQELR 

       730        740        750        760        770        780 
ESRKEAINYS QQLAKANLKI DHLEKETSLL RQSEGSNVVF KGIDLPDGIA PSSASIINSQ 

       790        800        810        820        830        840 
NEYLIHLLQE LENKEKKLKN LEDSLEDYNR KFAVIRHQQS LLYKEYLSEK ETWKTESKTI 

       850        860        870        880        890        900 
KEEKRKLEDQ VQQDAIKVKE YNNLLNALQM DSDEMKKILA ENSRKITVLQ VNEKSLIRQY 

       910        920        930        940        950        960 
TTLVELERQL RKENEKQKNE LLSMEAEVCE KIGCLQRFKE MAIFKIAALQ KVVDNSVSLS 

       970        980        990       1000       1010       1020 
ELELANKQYN ELTAKYRDIL QKDNMLVQRT SNLEHLECEN ISLKEQVESI NKELEITKEK 

      1030       1040       1050       1060       1070       1080 
LHTIEQAWEQ ETKLGNESSM DKAKKSITNS DIVSISKKIT MLEMKELNER QRAEHCQKMY 

      1090       1100       1110       1120       1130       1140 
EHLRTSLKQM EERNFELETK FAELTKINLD AQKVEQMLRD ELADSVSKAV SDADRQRILE 

      1150       1160       1170       1180       1190       1200 
LEKNEMELKV EVSKLREISD IARRQVEILN AQQQSRDKEV ESLRMQLLDY QAQSDEKSLI 

      1210       1220       1230       1240       1250       1260 
AKLHQHNVSL QLSEATALGK LESITSKLQK MEAYNLRLEQ KLDEKEQALY YARLEGRNRA 

      1270       1280       1290       1300       1310       1320 
KHLRQTIQSL RRQFSGALPL AQQEKFSKTM IQLQNDKLKI MQEMKNSQQE HRNMENKTLE 

      1330       1340       1350       1360       1370       1380 
MELKLKGLEE LISTLKDTKG AQKVINWHMK IEELRLQELK LNRELVKDKE EIKYLNNIIS 

      1390       1400       1410       1420       1430       1440 
EYERTISSLE EEIVQQNKFH EERQMAWDQR EVDLERQLDI FDRQQNEILN AAQKFEEATG 

      1450       1460       1470       1480       1490       1500 
SIPDPSLPLP NQLEIALRKI KENIRIILET RATCKSLEEK LKEKESALRL AEQNILSRDK 

      1510       1520       1530       1540       1550       1560 
VINELRLRLP ATAEREKLIA ELGRKEMEPK SHHTLKIAHQ TIANMQARLN QKEEVLKKYQ 

      1570       1580       1590       1600       1610       1620 
RLLEKAREEQ REIVKKHEED LHILHHRLEL QADSSLNKFK QTAWDLMKQS PTPVPTNKHF 

      1630       1640       1650       1660       1670       1680 
IRLAEMEQTV AEQDDSLSSL LVKLKKVSQD LERQREITEL KVKEFENIKL QLQENHEDEV 

      1690       1700       1710       1720       1730       1740 
KKVKAEVEDL KYLLDQSQKE SQCLKSELQA QKEANSRAPT TTMRNLVERL KSQLALKEKQ 

      1750       1760       1770       1780       1790       1800 
QKALSRALLE LRAEMTAAAE ERIISATSQK EAHLNVQQIV DRHTRELKTQ VEDLNENLLK 

      1810       1820       1830       1840       1850       1860 
LKEALKTSKN RENSLTDNLN DLNNELQKKQ KAYNKILREK EEIDQENDEL KRQIKRLTSG 

      1870       1880       1890       1900       1910       1920 
LQGKPLTDNK QSLIEELQRK VKKLENQLEG KVEEVDLKPM KEKNAKEELI RWEEGKKWQA 

      1930       1940       1950       1960       1970       1980 
KIEGIRNKLK EKEGEVFTLT KQLNTLKDLF AKADKEKLTL QRKLKTTGMT VDQVLGIRAL 

      1990       2000       2010       2020       2030       2040 
ESEKELEELK KRNLDLENDI LYMRAHQALP RDSVVEDLHL QNRYLQEKLH ALEKQFSKDT 

      2050       2060       2070       2080       2090       2100 
YSKPSISGIE SDDHCQREQE LQKENLKLSS ENIELKFQLE QANKDLPRLK NQVRDLKEMC 

      2110       2120       2130       2140       2150       2160 
EFLKKEKAEV QRKLGHVRGS GRSGKTIPEL EKTIGLMKKV VEKVQRENEQ LKKASGILTS 

      2170       2180       2190       2200       2210       2220 
EKMANIEQEN EKLKAELEKL KAHLGHQLSM HYESKTKGTE KIIAENERLR KELKKETDAA 

      2230       2240       2250       2260       2270       2280 
EKLRIAKNNL EILNEKMTVQ LEETGKRLQF AESRGPQLEG ADSKSWKSIV VTRMYETKLK 

      2290       2300       2310       2320       2330       2340 
ELETDIAKKN QSITDLKQLV KEATEREQKV NKYNEDLEQQ IKILKHVPEG AETEQGLKRE 

      2350       2360       2370       2380       2390       2400 
LQVLRLANHQ LDKEKAELIH QIEANKDQSG AESTIPDADQ LKEKIKDLET QLKMSDLEKQ 

      2410       2420       2430       2440       2450       2460 
HLKEEIKKLK KELENFDPSF FEEIEDLKYN YKEEVKKNIL LEEKVKKLSE QLGVELTSPV 

      2470 
AASEEFEDEE ESPVNFPIY 

« Hide

Isoform 2 [UniParc].

Checksum: D901314E981BF001
Show »

FASTA1,539180,067

References

« Hide 'large scale' references
[1]"The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4."
Sayer J.A., Otto E.A., O'toole J.F., Nurnberg G., Kennedy M.A., Becker C., Hennies H.C., Helou J., Attanasio M., Fausett B.V., Utsch B., Khanna H., Liu Y., Drummond I., Kawakami I., Kusakabe T., Tsuda M., Ma L. expand/collapse author list , Lee H., Larson R.G., Allen S.J., Wilkinson C.J., Nigg E.A., Shou C., Lillo C., Williams D.S., Hoppe B., Kemper M.J., Neuhaus T., Parisi M.A., Glass I.A., Petry M., Kispert A., Gloy J., Ganner A., Walz G., Zhu X., Goldman D., Nurnberg P., Swaroop A., Leroux M.R., Hildebrandt F.
Nat. Genet. 38:674-681(2006) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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]"Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis."
den Hollander A.I., Koenekoop R.K., Yzer S., Lopez I., Arends M.L., Voesenek K.E.J., Zonneveld M.N., Strom T.M., Meitinger T., Brunner H.G., Hoyng C.B., van den Born L.I., Rohrschneider K., Cremers F.P.M.
Am. J. Hum. Genet. 79:556-561(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN LCA10.
[8]"CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290."
Gorden N.T., Arts H.H., Parisi M.A., Coene K.L.M., Letteboer S.J.F., van Beersum S.E.C., Mans D.A., Hikida A., Eckert M., Knutzen D., Alswaid A.F., Oezyurek H., Dibooglu S., Otto E.A., Liu Y., Davis E.E., Hutter C.M., Bammler T.K. expand/collapse author list , Farin F.M., Dorschner M., Topcu M., Zackai E.H., Rosenthal P., Owens K.N., Katsanis N., Vincent J.B., Hildebrandt F., Rubel E.W., Raible D.W., Knoers N.V.A.M., Chance P.F., Roepman R., Moens C.B., Glass I.A., Doherty D.
Am. J. Hum. Genet. 83:559-571(2008) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways."
Sang L., Miller J.J., Corbit K.C., Giles R.H., Brauer M.J., Otto E.A., Baye L.M., Wen X., Scales S.J., Kwong M., Huntzicker E.G., Sfakianos M.K., Sandoval W., Bazan J.F., Kulkarni P., Garcia-Gonzalo F.R., Seol A.D., O'Toole J.F. expand/collapse author list , Held S., Reutter H.M., Lane W.S., Rafiq M.A., Noor A., Ansar M., Devi A.R., Sheffield V.C., Slusarski D.C., Vincent J.B., Doherty D.A., Hildebrandt F., Reiter J.F., Jackson P.K.
Cell 145:513-528(2011) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"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 KIAA1009.
[15]"Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome."
International Joubert syndrome related disorders (JSRD) study group
Valente E.M., Silhavy J.L., Brancati F., Barrano G., Krishnaswami S.R., Castori M., Lancaster M.A., Boltshauser E., Boccone L., Al-Gazali L., Fazzi E., Signorini S., Louie C.M., Bellacchio E., Bertini E., Dallapiccola B., Gleeson J.G.
Nat. Genet. 38:623-625(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT JBTS5 CYS-7.
[16]"Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome."
Baala L., Audollent S., Martinovic J., Ozilou C., Babron M.-C., Sivanandamoorthy S., Saunier S., Salomon R., Gonzales M., Rattenberry E., Esculpavit C., Toutain A., Moraine C., Parent P., Marcorelles P., Dauge M.-C., Roume J., Le Merrer M. expand/collapse author list , Meiner V., Meir K., Menez F., Beaufrere A.-M., Francannet C., Tantau J., Sinico M., Dumez Y., MacDonald F., Munnich A., Lyonnet S., Gubler M.-C., Genin E., Johnson C.A., Vekemans M., Encha-Razavi F., Attie-Bitach T.
Am. J. Hum. Genet. 81:170-179(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN MKS4.
[17]"CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders."
Brancati F., Barrano G., Silhavy J.L., Marsh S.E., Travaglini L., Bielas S.L., Amorini M., Zablocka D., Kayserili H., Al-Gazali L., Bertini E., Boltshauser E., D'Hooghe M., Fazzi E., Fenerci E.Y., Hennekam R.C., Kiss A., Lees M.M. expand/collapse author list , Marco E., Phadke S.R., Rigoli L., Romano S., Salpietro C.D., Sherr E.H., Signorini S., Stromme P., Stuart B., Sztriha L., Viskochil D.H., Yuksel A., Dallapiccola B., Valente E.M., Gleeson J.G.
Am. J. Hum. Genet. 81:104-113(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GLN-277; GLY-664; GLU-838; TRP-906 AND LYS-2228.
[18]"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.
[19]"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.
[20]"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.
[21]"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.
[22]"Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population."
Srour M., Schwartzentruber J., Hamdan F.F., Ospina L.H., Patry L., Labuda D., Massicotte C., Dobrzeniecka S., Capo-Chichi J.M., Papillon-Cavanagh S., Samuels M.E., Boycott K.M., Shevell M.I., Laframboise R., Desilets V., Maranda B., Rouleau G.A., Majewski J., Michaud J.L.
Am. J. Hum. Genet. 90:693-700(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT JBTS5 LYS-534.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_079390.3. NM_025114.3.
UniGeneHs.150444.

3D structure databases

ProteinModelPortalO15078.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123163. 10 interactions.
IntActO15078. 9 interactions.
MINTMINT-4994437.
STRING9606.ENSP00000308021.

PTM databases

PhosphoSiteO15078.

Proteomic databases

PaxDbO15078.
PRIDEO15078.

Protocols and materials databases

DNASU80184.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000397838; ENSP00000380938; ENSG00000198707. [O15078-2]
ENST00000547691; ENSP00000446905; ENSG00000198707. [O15078-2]
ENST00000552810; ENSP00000448012; ENSG00000198707. [O15078-1]
GeneID80184.
KEGGhsa:80184.
UCSCuc001taq.3. human. [O15078-1]

Organism-specific databases

CTD80184.
GeneCardsGC12M088442.
H-InvDBHIX0010863.
HGNCHGNC:29021. CEP290.
HPACAB029995.
HPA043918.
MIM209900. phenotype.
610142. gene.
610188. phenotype.
610189. phenotype.
611134. phenotype.
611755. phenotype.
neXtProtNX_O15078.
Orphanet110. Bardet-Biedl syndrome.
2318. Joubert syndrome with oculorenal defect.
65. Leber congenital amaurosis.
564. Meckel syndrome.
3156. Senior-Loken syndrome.
PharmGKBPA143485433.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOGENOMHOG000111526.
HOVERGENHBG081077.
InParanoidO15078.
KOK16533.
OrthoDBEOG7RNK0B.
PhylomeDBO15078.
TreeFamTF326911.

Enzyme and pathway databases

ReactomeREACT_115566. Cell Cycle.

Gene expression databases

ArrayExpressO15078.
BgeeO15078.
CleanExHS_CEP290.
GenevestigatorO15078.

Family and domain databases

InterProIPR026201. Cep290.
[Graphical view]
PANTHERPTHR18879. PTHR18879. 1 hit.
ProtoNetSearch...

Other

GeneWikiCEP290.
GenomeRNAi80184.
NextBio70527.
PROO15078.
SOURCESearch...

Entry information

Entry nameCE290_HUMAN
AccessionPrimary (citable) accession number: O15078
Secondary accession number(s): Q1PSK5 expand/collapse secondary AC list , Q66GS8, Q9H2G6, Q9H6Q7, Q9H8I0
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: October 17, 2006
Last modified: April 16, 2014
This is version 126 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM