Reviewed, UniProtKB/Swiss-Prot O15078 (CE290_HUMAN)

Names and origin

Protein names

Recommended name:
    Centrosomal protein of 290 kDa
      Short name=Cep290
Alternative name(s):
    Nephrocystin-6
    Tumor antigen se2-2
    Cancer/testis antigen 87
      Short name=CT87

Gene names

Name:	CEP290
Synonyms:	KIAA0373, NPHP6

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	2479 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	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	Interacts with ATF4 via its N-terminal region. Part of selected centrosomal and microtubule-associated protein complexes. Interacts with CC2D2A. Ref.1 Ref.9
Subcellular location	Cytoplasm › cytoskeleton › centrosome. Nucleus. Cell projection › cilium. Note: Connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells. Ref.1 Ref.6
Tissue specificity	Ubiquitous. Expressed strongly in placenta and weakly in brain. Ref.1 Ref.5
Involvement in disease	Defects in CEP290 are a cause of Joubert syndrome type 5 (JBTS5) [MIM:610188]. Joubert syndrome is an autosomal recessive disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (the 'molar tooth sign' on axial magnetic resonance imaging), psychomotor delay, hypotonia, ataxia, oculomotor apraxia and neonatal breathing abnormalities. JBTS5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis. Ref.1 Ref.5 Ref.11 Defects in CEP290 are a cause of Senior-Loken syndrome type 6 (SLSN6) [MIM:610189]. Senior-Loken syndrome is also known as juvenile nephronophthisis with Leber amaurosis. It is an autosomal recessive renal-retinal disorder, characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renal disease, and progressive eye disease. Ref.1 Ref.5 Defects in CEP290 are the cause of Leber congenital amaurosis type 10 (LCA10) [MIM:611755]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Ref.5 Ref.7 Defects in CEP290 are the cause of Meckel syndrome type 4 (MKS4) [MIM:611134]. MKS4 is an autosomal recessive 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. Ref.5 Ref.12 Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not in the healthy control population. Ref.5
Sequence caution	The sequence AAG34904.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Potential poly-A sequence. The sequence AK023677 differs from that shown. Reason: Frameshift at position 556. The sequence BAB15196.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Potential poly-A sequence.

Ontologies

Keywords
Biological process	Cilium biogenesis/degradation Protein transport Transport
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Joubert syndrome Leber congenital amaurosis Meckel syndrome Senior-Loken syndrome
Domain	Coiled coil
Molecular function	Activator
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	cell projection organization Inferred from electronic annotation. Source: UniProtKB-KW eye photoreceptor cell development Ref.1 Inferred from sequence or structural similarity. Source: HGNC hindbrain development Ref.1 Inferred from sequence or structural similarity. Source: HGNC otic vesicle formation Ref.1 Inferred from sequence or structural similarity. Source: HGNC pronephros development Ref.1 Inferred from sequence or structural similarity. Source: HGNC protein transport Inferred from sequence or structural similarity. Source: UniProtKB
Cellular component	cell surface Inferred from direct assay. Source: UniProtKB centrosome Ref.1 Ref.6 Inferred from direct assay. Source: UniProtKB cytosol Ref.1 Inferred from direct assay. Source: HGNC nucleus Ref.1 Inferred from direct assay. Source: HGNC photoreceptor connecting cilium Ref.1 Inferred from sequence or structural similarity. Source: UniProtKB
Molecular function	protein binding Ref.1 Inferred from physical interaction. Source: HGNC transcription activator activity Ref.1 Inferred from direct assay. Source: HGNC
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2479	2479	Centrosomal protein of 290 kDa		PRO_0000089464
Regions
	Coiled coil	59 – 565	507	Potential
	Coiled coil	598 – 664	67	Potential
	Coiled coil	697 – 931	235	Potential
	Coiled coil	958 – 1027	70	Potential
	Coiled coil	1071 – 1498	428	Potential
	Coiled coil	1533 – 1584	52	Potential
	Coiled coil	1635 – 2452	818	Potential
Amino acid modifications
	Modified residue	1209	1	Phosphoserine Ref.10
	Modified residue	1697	1	Phosphoserine Ref.8
Natural variations
	Alternative sequence	1 – 940	940	Missing in isoform 2.		VSP_021027
	Natural variant	7	1	W → C in JBTS5. Ref.11		VAR_028356
	Natural variant	838	1	K → E: dbSNP rs11104738.		VAR_031058
	Natural variant	906	1	L → W: dbSNP rs7970228.		VAR_031059
	Natural variant	1237	1	R → H: dbSNP rs7307793.		VAR_031060
	Natural variant	1836	1	I → V: dbSNP rs11104729.		VAR_031061
Experimental info
	Sequence conflict	544	1	S → C in AK023677. Ref.4
	Sequence conflict	718	1	E → G in AK023677. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 17, 2006. Version 2. Checksum: 7CA87D53FAF036FC	FASTA	2,479	290,386
	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
	Isoform 2. Checksum: D901314E981BF001	FASTA	1,539	180,067
	10 20 30 40 50 60 MAIFKIAALQ KVVDNSVSLS ELELANKQYN ELTAKYRDIL QKDNMLVQRT SNLEHLECEN 70 80 90 100 110 120 ISLKEQVESI NKELEITKEK LHTIEQAWEQ ETKLGNESSM DKAKKSITNS DIVSISKKIT 130 140 150 160 170 180 MLEMKELNER QRAEHCQKMY EHLRTSLKQM EERNFELETK FAELTKINLD AQKVEQMLRD 190 200 210 220 230 240 ELADSVSKAV SDADRQRILE LEKNEMELKV EVSKLREISD IARRQVEILN AQQQSRDKEV 250 260 270 280 290 300 ESLRMQLLDY QAQSDEKSLI AKLHQHNVSL QLSEATALGK LESITSKLQK MEAYNLRLEQ 310 320 330 340 350 360 KLDEKEQALY YARLEGRNRA KHLRQTIQSL RRQFSGALPL AQQEKFSKTM IQLQNDKLKI 370 380 390 400 410 420 MQEMKNSQQE HRNMENKTLE MELKLKGLEE LISTLKDTKG AQKVINWHMK IEELRLQELK 430 440 450 460 470 480 LNRELVKDKE EIKYLNNIIS EYERTISSLE EEIVQQNKFH EERQMAWDQR EVDLERQLDI 490 500 510 520 530 540 FDRQQNEILN AAQKFEEATG SIPDPSLPLP NQLEIALRKI KENIRIILET RATCKSLEEK 550 560 570 580 590 600 LKEKESALRL AEQNILSRDK VINELRLRLP ATAEREKLIA ELGRKEMEPK SHHTLKIAHQ 610 620 630 640 650 660 TIANMQARLN QKEEVLKKYQ RLLEKAREEQ REIVKKHEED LHILHHRLEL QADSSLNKFK 670 680 690 700 710 720 QTAWDLMKQS PTPVPTNKHF IRLAEMEQTV AEQDDSLSSL LVKLKKVSQD LERQREITEL 730 740 750 760 770 780 KVKEFENIKL QLQENHEDEV KKVKAEVEDL KYLLDQSQKE SQCLKSELQA QKEANSRAPT 790 800 810 820 830 840 TTMRNLVERL KSQLALKEKQ QKALSRALLE LRAEMTAAAE ERIISATSQK EAHLNVQQIV 850 860 870 880 890 900 DRHTRELKTQ VEDLNENLLK LKEALKTSKN RENSLTDNLN DLNNELQKKQ KAYNKILREK 910 920 930 940 950 960 EEIDQENDEL KRQIKRLTSG LQGKPLTDNK QSLIEELQRK VKKLENQLEG KVEEVDLKPM 970 980 990 1000 1010 1020 KEKNAKEELI RWEEGKKWQA KIEGIRNKLK EKEGEVFTLT KQLNTLKDLF AKADKEKLTL 1030 1040 1050 1060 1070 1080 QRKLKTTGMT VDQVLGIRAL ESEKELEELK KRNLDLENDI LYMRAHQALP RDSVVEDLHL 1090 1100 1110 1120 1130 1140 QNRYLQEKLH ALEKQFSKDT YSKPSISGIE SDDHCQREQE LQKENLKLSS ENIELKFQLE 1150 1160 1170 1180 1190 1200 QANKDLPRLK NQVRDLKEMC EFLKKEKAEV QRKLGHVRGS GRSGKTIPEL EKTIGLMKKV 1210 1220 1230 1240 1250 1260 VEKVQRENEQ LKKASGILTS EKMANIEQEN EKLKAELEKL KAHLGHQLSM HYESKTKGTE 1270 1280 1290 1300 1310 1320 KIIAENERLR KELKKETDAA EKLRIAKNNL EILNEKMTVQ LEETGKRLQF AESRGPQLEG 1330 1340 1350 1360 1370 1380 ADSKSWKSIV VTRMYETKLK ELETDIAKKN QSITDLKQLV KEATEREQKV NKYNEDLEQQ 1390 1400 1410 1420 1430 1440 IKILKHVPEG AETEQGLKRE LQVLRLANHQ LDKEKAELIH QIEANKDQSG AESTIPDADQ 1450 1460 1470 1480 1490 1500 LKEKIKDLET QLKMSDLEKQ HLKEEIKKLK KELENFDPSF FEEIEDLKYN YKEEVKKNIL 1510 1520 1530 LEEKVKKLSE QLGVELTSPV AASEEFEDEE ESPVNFPIY

References

	« Hide 'large scale' referencesShow '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. , 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: 16682973] [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: 9205841] [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: 16541075] [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: 14702039] [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: 11149944] [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: 14654843] [Abstract] Cited for: IDENTIFICATION, SUBCELLULAR LOCATION, MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[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: 16909394] [Abstract] Cited for: INVOLVEMENT IN LCA10.
[8]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1697, MASS SPECTROMETRY. Tissue: Epithelium.
[9]	"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. , 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: 18950740] [Abstract] Cited for: INTERACTION WITH CC2D2A.
[10]	"Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column." Imami K., Sugiyama N., Kyono Y., Tomita M., Ishihama Y. Anal. Sci. 24:161-166(2008) [PubMed: 18187866] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1209, MASS SPECTROMETRY.
[11]	"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: 16682970] [Abstract] Cited for: VARIANT JBTS5 CYS-7.
[12]	"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. , 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: 17564974] [Abstract] Cited for: INVOLVEMENT IN MKS4.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
IPI	IPI00784201. IPI00794668.
RefSeq	NP_079390.3.
UniGene	Hs.150444
3D structure databases
HSSP	HSSP built from PDB template 1SFC based on UniProtKB Q9WUW2.
ModBase	Search...
Protein-protein interaction databases
IntAct	O15078. 2 interactions.
STRING	O15078.
PTM databases
PhosphoSite	O15078.
Genome annotation databases
Ensembl	ENST00000309041; ENSP00000308021; ENSG00000198707; Homo sapiens. [Genome view] ENST00000397838; ENSP00000380938; ENSG00000198707; Homo sapiens. [Genome view]
GeneID	80184.
KEGG	hsa:80184.
UCSC	uc001taq.1. human. uc001tar.1. human.
Organism-specific databases
CTD	80184.
GeneCards	GC12M086966.
H-InvDB	HIX0010863. HIX0010864. HIX0037052.
HGNC	HGNC:29021. CEP290.
MIM	610142. gene. 610188. phenotype. 610189. phenotype. 611134. phenotype. 611755. phenotype.
Orphanet	475. Joubert syndrome. 65. Leber amaurosis, congenital. 564. Meckel syndrome. 3156. Senior-Loken syndrome.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOGENOM	O15078.
HOVERGEN	O15078.
Enzyme and pathway databases
Reactome	REACT_152. Cell Cycle, Mitotic.
Gene expression databases
ArrayExpress	O15078.
Bgee	O15078.
CleanEx	HS_CEP290.
Genevestigator	O15078.
GermOnline	ENSG00000198707. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	70527.
SOURCE	Search...

Entry information

Entry name

CE290_HUMAN

Accession

Primary (citable) accession number: O15078
Secondary accession number(s): Q1PSK5 , Q66GS8, Q9H2G6, Q9H6Q7, Q9H8I0

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	October 17, 2006
Last modified:	October 13, 2009
This is version 77 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.