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O15078

- CE290_HUMAN

UniProt

O15078 - CE290_HUMAN

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Protein
Centrosomal protein of 290 kDa
Gene
CEP290, BBS14, KIAA0373, NPHP6
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.1 Publication

GO - Molecular functioni

  1. protein binding Source: UniProtKB

GO - Biological processi

  1. G2/M transition of mitotic cell cycle Source: Reactome
  2. cilium assembly Source: UniProtKB
  3. cilium morphogenesis Source: UniProtKB
  4. establishment or maintenance of cell polarity Source: Ensembl
  5. eye photoreceptor cell development Source: HGNC
  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
Complete GO annotation...

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.6 Publications

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications

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 kDa
PRO_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.7 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.

Family & Domainsi

Coiled coil

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

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.
VSP_021027Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti544 – 5441S → C in AK023677. 1 Publication
Sequence conflicti718 – 7181E → G in AK023677. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 130 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

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