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CEP290

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GENERAL INFORMATION

Gene name

 CEP290

Gene description

 Centrosomal protein 290kDa

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Localized to the centrosome.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Centrosome (supported)

DATA RELIABILITY

Reliability score

 Supported based on 1 antibody.
HPA064397
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Localized to the centrosome.

Main location

 Centrosome (supported)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA064397 RH-30 Centrosome
HPA064397 U-2 OS Centrosome

GENE INFORMATION

Gene name

 CEP290 (HGNC Symbol)

Synonyms

 3H11Ag, BBS14, CT87, FLJ13615, JBTS5, KIAA0373, LCA10, MKS4, NPHP6, POC3, rd16, SLSN6

Description

 Centrosomal protein 290kDa (HGNC Symbol)

Entrez gene summary

 This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]

Chromosome

 12

Cytoband

 q21.32

Chromosome location (bp)

 88049014 - 88142216

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000198707 (version 83.38)

Entrez gene

 80184

UniProt

 O15078 (UniProt - Evidence at protein level)

neXtProt

 NX_O15078

Antibodypedia

 CEP290 antibodies

PROTEIN BROWSER
CEP290-001
CEP290-003
CEP290-005
CEP290-006
CEP290-007
CEP290-201
CEP290-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CEP290-001
ENSP00000448012
ENST00000552810
O15078 [Direct mapping]
Centrosomal protein of 290 kDa
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000086 [G2/M transition of mitotic cell cycle]
GO:0000278 [mitotic cell cycle]
GO:0000930 [gamma-tubulin complex]
GO:0001750 [photoreceptor outer segment]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0006996 [organelle organization]
GO:0007163 [establishment or maintenance of cell polarity]
GO:0007368 [determination of left/right symmetry]
GO:0007507 [heart development]
GO:0015031 [protein transport]
GO:0016020 [membrane]
GO:0030814 [regulation of cAMP metabolic process]
GO:0030902 [hindbrain development]
GO:0030916 [otic vesicle formation]
GO:0032391 [photoreceptor connecting cilium]
GO:0034451 [centriolar satellite]
GO:0035058 [nonmotile primary cilium assembly]
GO:0035869 [ciliary transition zone]
GO:0036038 [TCTN-B9D complex]
GO:0042384 [cilium assembly]
GO:0042462 [eye photoreceptor cell development]
GO:0043234 [protein complex]
GO:0045494 [photoreceptor cell maintenance]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0048793 [pronephros development]
GO:0060041 [retina development in camera-type eye]
GO:0060271 [cilium morphogenesis]
GO:0070201 [regulation of establishment of protein localization]
GO:0090316 [positive regulation of intracellular protein transport]
Show all
 2479 aa
290.4 kDa 		No 0
CEP290-003
ENSP00000473863
ENST00000604024
S4R322 [Direct mapping]
Centrosomal protein of 290 kDa
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005634 [nucleus]
GO:0005813 [centrosome]
GO:0060271 [cilium morphogenesis]
Show all
 857 aa
100.1 kDa 		No 0
CEP290-005
ENSP00000446905
ENST00000547691
O15078 [Direct mapping]
Centrosomal protein of 290 kDa
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000086 [G2/M transition of mitotic cell cycle]
GO:0000278 [mitotic cell cycle]
GO:0000930 [gamma-tubulin complex]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0006996 [organelle organization]
GO:0015031 [protein transport]
GO:0016020 [membrane]
GO:0030902 [hindbrain development]
GO:0030916 [otic vesicle formation]
GO:0032391 [photoreceptor connecting cilium]
GO:0034451 [centriolar satellite]
GO:0035869 [ciliary transition zone]
GO:0036038 [TCTN-B9D complex]
GO:0042384 [cilium assembly]
GO:0042462 [eye photoreceptor cell development]
GO:0043234 [protein complex]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0048793 [pronephros development]
GO:0060271 [cilium morphogenesis]
GO:0070201 [regulation of establishment of protein localization]
GO:0090316 [positive regulation of intracellular protein transport]
Show all
 1539 aa
180.1 kDa 		No 0
CEP290-006
ENSP00000447623
ENST00000550962
F8W097 [Direct mapping]
Centrosomal protein of 290 kDa
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005634 [nucleus]
GO:0005813 [centrosome]
GO:0060271 [cilium morphogenesis]
Show all
 164 aa
19.4 kDa 		No 0
CEP290-007
ENSP00000447527
ENST00000552770
F8W0V9 [Direct mapping]
Centrosomal protein of 290 kDa
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005634 [nucleus]
GO:0005813 [centrosome]
GO:0060271 [cilium morphogenesis]
Show all
 107 aa
12.8 kDa 		No 0
CEP290-201
ENSP00000308021
ENST00000309041
J3KNF5 [Direct mapping]
Centrosomal protein of 290 kDa
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005634 [nucleus]
GO:0005813 [centrosome]
GO:0060271 [cilium morphogenesis]
Show all
 2481 aa
290.5 kDa 		No 0
CEP290-202
ENSP00000380938
ENST00000397838
A0A0A0MS86 [Direct mapping]
Centrosomal protein of 290 kDa
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005634 [nucleus]
GO:0005813 [centrosome]
GO:0060271 [cilium morphogenesis]
Show all
 806 aa
94.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.