Centrosomal protein of 290 kDa - Homo sapiens (Human)

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Alternative products

Sequence annotation (Features)

Sequences

References

Web resources

Cross-references

Entry information

Relevant documents

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Alternative products

Sequence annotation (Features)

Sequences

References

Web resources

Cross-references

Entry information

Relevant documents

Preferred order of sections

Molecule processing

Regions

Amino acid modifications

Natural variations

Experimental info

Preferred order of sections

Molecule processing

Regions

Amino acid modifications

Natural variations

Experimental info

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other

Protein names

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 names

Name:	CEP290
Synonyms:	BBS14, KIAA0373, NPHP6

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Sequence length	2479 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

Function	Part of the tectonic 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 complex composed at least of MKS1, TMEM216, TMEM67, CEP290, B9D1, TCTN1, TCTN2, TCTN3 and CC2D2A By similarity. Interacts with ATF4 via its N-terminal region. Part of selected centrosomal and microtubule-associated protein complexes. Interacts with IQCB1. Ref.1 Ref.9 Ref.13
Subcellular location	Cytoplasm › cytoskeleton › centrosome. Nucleus. Cell projection › cilium. Cytoplasm › cytoskeleton › cilium 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.13
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.14 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 Ref.18 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.15 Note=Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not in the healthy control population. Ref.5 Defects in CEP290 are the cause of Bardet-Biedl syndrome type 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. Inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for disease manifestation in some cases (triallelic inheritance). Ref.5 Ref.11
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.

Keywords
Biological process	Cilium biogenesis/degradation Protein transport Transport
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Bardet-Biedl syndrome Ciliopathy Disease mutation Joubert syndrome Leber congenital amaurosis Meckel syndrome Mental retardation Nephronophthisis Obesity Senior-Loken syndrome
Domain	Coiled coil
Molecular function	Activator
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	G2/M transition of mitotic cell cycle Traceable author statement. Source: Reactome cilium assembly Inferred from sequence or structural similarity. Source: UniProtKB 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 otic vesicle formation Inferred from sequence or structural similarity Ref.1. Source: HGNC positive regulation of transcription, DNA-dependent 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
Cellular component	cell surface Inferred from direct assay. Source: UniProtKB centrosome 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
Molecular function	protein binding Inferred from physical interaction Ref.13. Source: UniProtKB
Complete GO annotation...

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Chain

1 – 2479

2479

Centrosomal protein of 290 kDa

PRO_0000089464

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

Modified residue

1209

1

Phosphoserine Ref.10

Modified residue

1697

1

Phosphoserine Ref.8

Modified residue

2395

1

Phosphoserine Ref.12

Alternative sequence

1 – 940

940

Missing in isoform 2.

VSP_021027

Natural variant

7

1

W → C in JBTS5 and SLSN6. Ref.14 Ref.18

VAR_028356

Natural variant

277

1

E → Q. Ref.16

VAR_064397

Natural variant

664

1

D → G Found in a patient with Joubert syndrome; unknown pathological significance. Ref.16 Ref.17

VAR_064398

Natural variant

838

1

K → E. Ref.16
Corresponds to variant rs11104738 [ dbSNP | Ensembl ].

VAR_031058

Natural variant

906

1

L → W. Ref.16
Corresponds to variant rs7970228 [ dbSNP | Ensembl ].

VAR_031059

Natural variant

1237

1

R → H.
Corresponds to variant rs7307793 [ dbSNP | Ensembl ].

VAR_031060

Natural variant

1566

1

A → P. Ref.18

VAR_064399

Natural variant

1694

1

L → P. Ref.18

VAR_064400

Natural variant

1836

1

I → V.
Corresponds to variant rs11104729 [ dbSNP | Ensembl ].

VAR_031061

Natural variant

2228

1

N → K. Ref.16

VAR_064401

Sequence conflict

544

1

S → C in AK023677. Ref.4

Sequence conflict

718

1

E → G in AK023677. Ref.4

Sequence		Length	Mass (Da)
Isoform 1 [UniParc]. Last modified October 17, 2006. Version 2. Checksum: 7CA87D53FAF036FC Show »	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 « Hide
Isoform 2 [UniParc]. Checksum: D901314E981BF001 Show »	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 « Hide

	« 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. 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. 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. 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, MASS SPECTROMETRY, 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: 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: Cervix carcinoma.
[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. 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. Tissue: Cervix carcinoma.
[11]	"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: 18327255] [Abstract] Cited for: INVOLVEMENT IN BBS14.
[12]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2395, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[13]	"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. Jackson P.K. Cell 145:513-528(2011) [PubMed: 21565611] [Abstract] Cited for: SUBCELLULAR LOCATION, INTERACTION WITH IQCB1.
[14]	"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.
[15]	"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. Attie-Bitach T. Am. J. Hum. Genet. 81:170-179(2007) [PubMed: 17564974] [Abstract] Cited for: INVOLVEMENT IN MKS4.
[16]	"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. Gleeson J.G. Am. J. Hum. Genet. 81:104-113(2007) [PubMed: 17564967] [Abstract] Cited for: VARIANTS GLN-277; GLY-664; GLU-838; TRP-906 AND LYS-2228.
[17]	"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: 17617513] [Abstract] Cited for: VARIANT GLY-664.
[18]	"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: 20683928] [Abstract] Cited for: VARIANTS PRO-1566 AND PRO-1694, VARIANT SLSN6 CYS-7.
+	Additional computationally mapped references.

GeneReviews

CEP290 Mutation Database

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.
IPI	IPI00794668. IPI01023013.
RefSeq	NP_079390.3. NM_025114.3.
UniGene	Hs.150444.
3D structure databases
ProteinModelPortal	O15078.
ModBase	Search...
Protein-protein interaction databases
IntAct	O15078. 8 interactions.
STRING	O15078.
PTM databases
PhosphoSite	O15078.
Proteomic databases
PRIDE	O15078.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000309041; ENSP00000308021; ENSG00000198707.
GeneID	80184.
KEGG	hsa:80184.
UCSC	uc001taq.1. human. uc001tar.1. human.
Organism-specific databases
CTD	80184.
GeneCards	GC12M088442.
H-InvDB	HIX0010863. HIX0010864.
HGNC	HGNC:29021. CEP290.
HPA	CAB029995.
MIM	209900. phenotype. 610142. gene. 610188. phenotype. 610189. phenotype. 611134. phenotype. 611755. phenotype.
neXtProt	NX_O15078.
Orphanet	110. Bardet-Biedl syndrome. 65. Congenital Leber amaurosis. 2318. Joubert syndrome with oculorenal defect. 564. Meckel syndrome. 3156. Senior-Loken syndrome.
PharmGKB	PA143485433.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG12453.
HOGENOM	HBG402900.
HOVERGEN	HBG081077.
InParanoid	O15078.
OrthoDB	EOG4DR9BD.
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
NextBio	70527.
SOURCE	Search...

Entry name

CE290_HUMAN

Accession

Primary (citable) accession number: O15078
Secondary accession number(s): Q1PSK5

Q9H8I0

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	October 17, 2006
Last modified:	January 25, 2012
This is version 100 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.

Human chromosome 12

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

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.