CEP290 ELISA Kit for Human(Homo sapiens) | EIAab.comCEP290 ELISA Kit for Human(Homo sapiens)

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CEP290 (Gene name),

Centrosomal protein of 290 kDa (Protein name ), CE290_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

CEP290(BBS14;KIAA0373;NPHP6);

Protein name:

Centrosomal protein of 290 kDa(Cep290);

Alternative:

Cancer/testis antigen 87(CT87);Bardet-Biedl syndrome 14 protein;Tumor antigen se2-2;Nephrocystin-6;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Interacts with ATF4 via its N-terminal region. Part of selected centrosomal and microtubule-associated protein complexes. Interacts with CC2D2A. Interacts with IQCB1.

Function:

Activates ATF4-mediated transcription. Involved in ciliogenesis (By similarity). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes.

Subcellular Location:

Cytoplasm cytoskeleton centrosome Nucleus Cell projection cilium Connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells.

Protein Attributes:

Sequence length:

2479

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2479:

QLGVELTSPV | AASEEFEDEE | ESPVNFPIY

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

KEGG:

hsa:80184

UniGene:

Hs.150444

String:

O15078

MIM:

209900

STRING:

9606.ENSP00000308021

Uniprot:

O15078

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ELISA Kit for Human Cep290

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E11695h

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Manual:

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96T

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ELISA Kit for Human Cep290

Cat.:

E11695b

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96T

ELISA Kit for Human Cep290

Cat.:

E11695m

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96T

CLIA Kit for Human Cep290

Cat.:

U11695b

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Packing:

96T

CLIA Kit for Human Cep290

Cat.:

U11695m

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MSDS:

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Packing:

96T

CLIA Kit for Human Cep290

Cat.:

U11695h

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96T

Polyclonal Antibody for Human Cep290

Cat.:

P11695Rb-h

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40ug/0.2ml

Polyclonal Antibody for Human Cep290

Cat.:

P11695Rb-m

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human Cep290

Monoclonal Antibody for Human Cep290

Protein for Human Cep290

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

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Linearity

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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. , more...
Nat. Genet.38:674-681(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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. , more...
Nature440:346-351(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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. , more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1058 (ISOFORM 1)
tissue: Hepatoma.
tissue: 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]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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.
Nature426:570-574(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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. , more...
Am. J. Hum. Genet.83:559-571(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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. , more...
Cell145:513-528(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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. , more...
Cell150:533-548(2012) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH FAM161A
14.

"The centriolar satellite protein Cep131 is important for genome stability."
Staples C.J. , Myers K.N. , Beveridge R.D. , Patil A.A. , Lee A.J. , Swanton C. , Howell M. , Boulton S.J. , Collis S.J.
J. Cell Sci.125:4770-4779(2012) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH CEP162
17.

"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]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT JBTS5 CYS-7
18.

"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. , more...
Am. J. Hum. Genet.81:170-179(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN MKS4
19.

"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. , more...
Am. J. Hum. Genet.81:104-113(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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. , more...
Hum. Mutat.31:E1709-E1766(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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 ONE6:E19458-E19458(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GLY-2263
24.

"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. , more...
Am. J. Hum. Genet.90:693-700(2012) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT JBTS5 LYS-534

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