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Entry version 179 (13 Nov 2019)
Sequence version 2 (17 Oct 2006)
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Protein

Centrosomal protein of 290 kDa

Gene

CEP290

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1 (PubMed:24421332). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity). Required for efficient recruitment of RAB8A to primary cilium (PubMed:17705300). In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5 (PubMed:25552655). Activates ATF4-mediated transcription (PubMed:16682973).By similarity5 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator
Biological processCilium biogenesis/degradation, Protein transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-6798695 Neutrophil degranulation
R-HSA-8854518 AURKA Activation by TPX2

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O15078

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CEP290
Synonyms:BBS14, KIAA0373, NPHP6
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:29021 CEP290

Online Mendelian Inheritance in Man (OMIM)

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MIMi
610142 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O15078

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Joubert syndrome 5 (JBTS5)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0283567W → C in JBTS5 and SLSN6. 2 PublicationsCorresponds to variant dbSNP:rs62635288EnsemblClinVar.1
Natural variantiVAR_068168534E → K in JBTS5. 1 PublicationCorresponds to variant dbSNP:rs895126773Ensembl.1
Natural variantiVAR_0756962134I → T in JBTS5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs117852025EnsemblClinVar.1
Senior-Loken syndrome 6 (SLSN6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0283567W → C in JBTS5 and SLSN6. 2 PublicationsCorresponds to variant dbSNP:rs62635288EnsemblClinVar.1
Leber congenital amaurosis 10 (LCA10)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Meckel syndrome 4 (MKS4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
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)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM

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

DisGeNET

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DisGeNETi
80184

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
CEP290

MalaCards human disease database

More...
MalaCardsi
CEP290
MIMi610188 phenotype
610189 phenotype
611134 phenotype
611755 phenotype
615991 phenotype

Open Targets

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OpenTargetsi
ENSG00000198707

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
110 Bardet-Biedl syndrome
2318 Joubert syndrome with oculorenal defect
65 Leber congenital amaurosis
564 Meckel syndrome
3156 Senior-Loken syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA143485433

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
O15078

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CEP290

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000894641 – 2479Centrosomal protein of 290 kDaAdd BLAST2479

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

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EPDi
O15078

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O15078

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
O15078

MaxQB - The MaxQuant DataBase

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MaxQBi
O15078

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O15078

PeptideAtlas

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PeptideAtlasi
O15078

PRoteomics IDEntifications database

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PRIDEi
O15078

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
48432 [O15078-1]
48433 [O15078-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O15078

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O15078

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous. Expressed strongly in placenta and weakly in brain.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000198707 Expressed in 214 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O15078 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O15078 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB029995
HPA043918
HPA064397

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Part of the tectonic-like complex (also named B9 complex) (By similarity).

Interacts with ATF4 via its N-terminal region (PubMed:16682973). Associates with the BBSome complex (PubMed:25552655, PubMed:23943788), interacting (via N-terminus) with BBS4 (PubMed:23943788).

Interacts with IQCB1/NPHP5; IQCB1 and CEP290/NPHP6 are proposed to form a functional NPHP5-6 module localized to the centrosome.

Interacts with NPHP4; the interaction likely requires additional interactors.

Interacts with ZNF423, FAM161A, CEP162, CEP162, CEP131, TALPID3, CCDC13, CC2D2A, RPGRIP1 (PubMed:18950740, PubMed:18723859, PubMed:21565611, PubMed:22863007, PubMed:22940612, PubMed:22797915, PubMed:23446637, PubMed:23644468, PubMed:24421332, PubMed:24816561, PubMed:20200501). Can self-associate (homo- or heteromeric) (PubMed:18723859).

Interacts with CCP110; required for suppressing cilia formation (PubMed:18694559).

Interacts with RPGR (By similarity). Associates (via C-terminus) with microtubules (PubMed:24121310, PubMed:24051377); 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 (PubMed:24121310).

Interacts with FAM161A (By similarity).

Interacts with PCM1 (By similarity).

Interacts with CCDC66 (PubMed:28235840).

By similarityCurated18 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
123163, 112 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O15078

Database of interacting proteins

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DIPi
DIP-46541N

Protein interaction database and analysis system

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IntActi
O15078, 126 interactors

Molecular INTeraction database

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MINTi
O15078

STRING: functional protein association networks

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STRINGi
9606.ENSP00000448012

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O15078

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 695Self-association (with itself or C-terminus)1 PublicationAdd BLAST695
Regioni696 – 896Interaction with IQCB11 PublicationAdd BLAST201
Regioni1966 – 2479Self-association (with itself or N-terminus)1 PublicationAdd BLAST514

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili59 – 565Sequence analysisAdd BLAST507
Coiled coili598 – 664Sequence analysisAdd BLAST67
Coiled coili697 – 931Sequence analysisAdd BLAST235
Coiled coili958 – 1027Sequence analysisAdd BLAST70
Coiled coili1071 – 1498Sequence analysisAdd BLAST428
Coiled coili1533 – 1584Sequence analysisAdd BLAST52
Coiled coili1635 – 2452Sequence analysisAdd BLAST818

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IIIW Eukaryota
ENOG410XRSC LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00730000111039

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000111526

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O15078

KEGG Orthology (KO)

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KOi
K16533

Database of Orthologous Groups

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OrthoDBi
27774at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O15078

TreeFam database of animal gene trees

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TreeFami
TF326911

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR032321 Cep209_CC5
IPR026201 Cep290

The PANTHER Classification System

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PANTHERi
PTHR18879 PTHR18879, 2 hits

Pfam protein domain database

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Pfami
View protein in Pfam
PF16574 CEP209_CC5, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O15078-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
        10         20         30         40         50
MPPNINWKEI MKVDPDDLPR QEELADNLLI SLSKVEVNEL KSEKQENVIH
60 70 80 90 100
LFRITQSLMK MKAQEVELAL EEVEKAGEEQ AKFENQLKTK VMKLENELEM
110 120 130 140 150
AQQSAGGRDT RFLRNEICQL EKQLEQKDRE LEDMEKELEK EKKVNEQLAL
160 170 180 190 200
RNEEAENENS KLRRENKRLK KKNEQLCQDI IDYQKQIDSQ KETLLSRRGE
210 220 230 240 250
DSDYRSQLSK KNYELIQYLD EIQTLTEANE KIEVQNQEMR KNLEESVQEM
260 270 280 290 300
EKMTDEYNRM KAIVHQTDNV IDQLKKENDH YQLQVQELTD LLKSKNEEDD
310 320 330 340 350
PIMVAVNAKV EEWKLILSSK DDEIIEYQQM LHNLREKLKN AQLDADKSNV
360 370 380 390 400
MALQQGIQER DSQIKMLTEQ VEQYTKEMEK NTCIIEDLKN ELQRNKGAST
410 420 430 440 450
LSQQTHMKIQ STLDILKEKT KEAERTAELA EADAREKDKE LVEALKRLKD
460 470 480 490 500
YESGVYGLED AVVEIKNCKN QIKIRDREIE ILTKEINKLE LKISDFLDEN
510 520 530 540 550
EALRERVGLE PKTMIDLTEF RNSKHLKQQQ YRAENQILLK EIESLEEERL
560 570 580 590 600
DLKKKIRQMA QERGKRSATS GLTTEDLNLT ENISQGDRIS ERKLDLLSLK
610 620 630 640 650
NMSEAQSKNE FLSRELIEKE RDLERSRTVI AKFQNKLKEL VEENKQLEEG
660 670 680 690 700
MKEILQAIKE MQKDPDVKGG ETSLIIPSLE RLVNAIESKN AEGIFDASLH
710 720 730 740 750
LKAQVDQLTG RNEELRQELR ESRKEAINYS QQLAKANLKI DHLEKETSLL
760 770 780 790 800
RQSEGSNVVF KGIDLPDGIA PSSASIINSQ NEYLIHLLQE LENKEKKLKN
810 820 830 840 850
LEDSLEDYNR KFAVIRHQQS LLYKEYLSEK ETWKTESKTI KEEKRKLEDQ
860 870 880 890 900
VQQDAIKVKE YNNLLNALQM DSDEMKKILA ENSRKITVLQ VNEKSLIRQY
910 920 930 940 950
TTLVELERQL RKENEKQKNE LLSMEAEVCE KIGCLQRFKE MAIFKIAALQ
960 970 980 990 1000
KVVDNSVSLS ELELANKQYN ELTAKYRDIL QKDNMLVQRT SNLEHLECEN
1010 1020 1030 1040 1050
ISLKEQVESI NKELEITKEK LHTIEQAWEQ ETKLGNESSM DKAKKSITNS
1060 1070 1080 1090 1100
DIVSISKKIT MLEMKELNER QRAEHCQKMY EHLRTSLKQM EERNFELETK
1110 1120 1130 1140 1150
FAELTKINLD AQKVEQMLRD ELADSVSKAV SDADRQRILE LEKNEMELKV
1160 1170 1180 1190 1200
EVSKLREISD IARRQVEILN AQQQSRDKEV ESLRMQLLDY QAQSDEKSLI
1210 1220 1230 1240 1250
AKLHQHNVSL QLSEATALGK LESITSKLQK MEAYNLRLEQ KLDEKEQALY
1260 1270 1280 1290 1300
YARLEGRNRA KHLRQTIQSL RRQFSGALPL AQQEKFSKTM IQLQNDKLKI
1310 1320 1330 1340 1350
MQEMKNSQQE HRNMENKTLE MELKLKGLEE LISTLKDTKG AQKVINWHMK
1360 1370 1380 1390 1400
IEELRLQELK LNRELVKDKE EIKYLNNIIS EYERTISSLE EEIVQQNKFH
1410 1420 1430 1440 1450
EERQMAWDQR EVDLERQLDI FDRQQNEILN AAQKFEEATG SIPDPSLPLP
1460 1470 1480 1490 1500
NQLEIALRKI KENIRIILET RATCKSLEEK LKEKESALRL AEQNILSRDK
1510 1520 1530 1540 1550
VINELRLRLP ATAEREKLIA ELGRKEMEPK SHHTLKIAHQ TIANMQARLN
1560 1570 1580 1590 1600
QKEEVLKKYQ RLLEKAREEQ REIVKKHEED LHILHHRLEL QADSSLNKFK
1610 1620 1630 1640 1650
QTAWDLMKQS PTPVPTNKHF IRLAEMEQTV AEQDDSLSSL LVKLKKVSQD
1660 1670 1680 1690 1700
LERQREITEL KVKEFENIKL QLQENHEDEV KKVKAEVEDL KYLLDQSQKE
1710 1720 1730 1740 1750
SQCLKSELQA QKEANSRAPT TTMRNLVERL KSQLALKEKQ QKALSRALLE
1760 1770 1780 1790 1800
LRAEMTAAAE ERIISATSQK EAHLNVQQIV DRHTRELKTQ VEDLNENLLK
1810 1820 1830 1840 1850
LKEALKTSKN RENSLTDNLN DLNNELQKKQ KAYNKILREK EEIDQENDEL
1860 1870 1880 1890 1900
KRQIKRLTSG LQGKPLTDNK QSLIEELQRK VKKLENQLEG KVEEVDLKPM
1910 1920 1930 1940 1950
KEKNAKEELI RWEEGKKWQA KIEGIRNKLK EKEGEVFTLT KQLNTLKDLF
1960 1970 1980 1990 2000
AKADKEKLTL QRKLKTTGMT VDQVLGIRAL ESEKELEELK KRNLDLENDI
2010 2020 2030 2040 2050
LYMRAHQALP RDSVVEDLHL QNRYLQEKLH ALEKQFSKDT YSKPSISGIE
2060 2070 2080 2090 2100
SDDHCQREQE LQKENLKLSS ENIELKFQLE QANKDLPRLK NQVRDLKEMC
2110 2120 2130 2140 2150
EFLKKEKAEV QRKLGHVRGS GRSGKTIPEL EKTIGLMKKV VEKVQRENEQ
2160 2170 2180 2190 2200
LKKASGILTS EKMANIEQEN EKLKAELEKL KAHLGHQLSM HYESKTKGTE
2210 2220 2230 2240 2250
KIIAENERLR KELKKETDAA EKLRIAKNNL EILNEKMTVQ LEETGKRLQF
2260 2270 2280 2290 2300
AESRGPQLEG ADSKSWKSIV VTRMYETKLK ELETDIAKKN QSITDLKQLV
2310 2320 2330 2340 2350
KEATEREQKV NKYNEDLEQQ IKILKHVPEG AETEQGLKRE LQVLRLANHQ
2360 2370 2380 2390 2400
LDKEKAELIH QIEANKDQSG AESTIPDADQ LKEKIKDLET QLKMSDLEKQ
2410 2420 2430 2440 2450
HLKEEIKKLK KELENFDPSF FEEIEDLKYN YKEEVKKNIL LEEKVKKLSE
2460 2470
QLGVELTSPV AASEEFEDEE ESPVNFPIY
Length:2,479
Mass (Da):290,386
Last modified:October 17, 2006 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KNF5J3KNF5_HUMAN
Centrosomal protein of 290 kDa
CEP290
2,481Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
S4R322S4R322_HUMAN
Centrosomal protein of 290 kDa
CEP290
857Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MS86A0A0A0MS86_HUMAN
Centrosomal protein of 290 kDa
CEP290
806Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W097F8W097_HUMAN
Centrosomal protein of 290 kDa
CEP290
164Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8VS29F8VS29_HUMAN
Centrosomal protein of 290 kDa
CEP290
613Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W0V9F8W0V9_HUMAN
Centrosomal protein of 290 kDa
CEP290
107Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAG34904 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AK023677 differs from that shown. Reason: Frameshift.Curated
The sequence BAA20828 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB15196 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti544S → C in AK023677 (PubMed:14702039).Curated1
Sequence conflicti718E → G in AK023677 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0283567W → C in JBTS5 and SLSN6. 2 PublicationsCorresponds to variant dbSNP:rs62635288EnsemblClinVar.1
Natural variantiVAR_064397277E → Q1 PublicationCorresponds to variant dbSNP:rs45502896EnsemblClinVar.1
Natural variantiVAR_068168534E → K in JBTS5. 1 PublicationCorresponds to variant dbSNP:rs895126773Ensembl.1
Natural variantiVAR_064398664D → G2 PublicationsCorresponds to variant dbSNP:rs79705698EnsemblClinVar.1
Natural variantiVAR_031058838K → E1 PublicationCorresponds to variant dbSNP:rs11104738EnsemblClinVar.1
Natural variantiVAR_031059906L → W1 PublicationCorresponds to variant dbSNP:rs7970228EnsemblClinVar.1
Natural variantiVAR_0310601237R → H. Corresponds to variant dbSNP:rs7307793EnsemblClinVar.1
Natural variantiVAR_0643991566A → P1 Publication1
Natural variantiVAR_0644001694L → P1 Publication1
Natural variantiVAR_0310611836I → V. Corresponds to variant dbSNP:rs11104729EnsemblClinVar.1
Natural variantiVAR_0756962134I → T in JBTS5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs117852025EnsemblClinVar.1
Natural variantiVAR_0669972210R → C1 PublicationCorresponds to variant dbSNP:rs374852145EnsemblClinVar.1
Natural variantiVAR_0644012228N → K1 PublicationCorresponds to variant dbSNP:rs373711746Ensembl.1
Natural variantiVAR_0671922263S → G Found in a patient with LCA10; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs77778467EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0210271 – 940Missing in isoform 2. 1 PublicationAdd BLAST940

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS55858.1 [O15078-1]

NCBI Reference Sequences

More...
RefSeqi
NP_079390.3, NM_025114.3 [O15078-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000547691; ENSP00000446905; ENSG00000198707 [O15078-2]
ENST00000552810; ENSP00000448012; ENSG00000198707 [O15078-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
80184

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:80184

UCSC genome browser

More...
UCSCi
uc001taq.4 human [O15078-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

CEP290 Mutation Database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]

3D structure databases

SMRiO15078
ModBaseiSearch...

Protein-protein interaction databases

BioGridi123163, 112 interactors
CORUMiO15078
DIPiDIP-46541N
IntActiO15078, 126 interactors
MINTiO15078
STRINGi9606.ENSP00000448012

PTM databases

iPTMnetiO15078
PhosphoSitePlusiO15078

Polymorphism and mutation databases

BioMutaiCEP290

Proteomic databases

EPDiO15078
jPOSTiO15078
MassIVEiO15078
MaxQBiO15078
PaxDbiO15078
PeptideAtlasiO15078
PRIDEiO15078
ProteomicsDBi48432 [O15078-1]
48433 [O15078-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
80184

Genome annotation databases

EnsembliENST00000547691; ENSP00000446905; ENSG00000198707 [O15078-2]
ENST00000552810; ENSP00000448012; ENSG00000198707 [O15078-1]
GeneIDi80184
KEGGihsa:80184
UCSCiuc001taq.4 human [O15078-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
80184
DisGeNETi80184

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CEP290
GeneReviewsiCEP290
HGNCiHGNC:29021 CEP290
HPAiCAB029995
HPA043918
HPA064397
MalaCardsiCEP290
MIMi610142 gene
610188 phenotype
610189 phenotype
611134 phenotype
611755 phenotype
615991 phenotype
neXtProtiNX_O15078
OpenTargetsiENSG00000198707
Orphaneti110 Bardet-Biedl syndrome
2318 Joubert syndrome with oculorenal defect
65 Leber congenital amaurosis
564 Meckel syndrome
3156 Senior-Loken syndrome
PharmGKBiPA143485433

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IIIW Eukaryota
ENOG410XRSC LUCA
GeneTreeiENSGT00730000111039
HOGENOMiHOG000111526
InParanoidiO15078
KOiK16533
OrthoDBi27774at2759
PhylomeDBiO15078
TreeFamiTF326911

Enzyme and pathway databases

ReactomeiR-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-6798695 Neutrophil degranulation
R-HSA-8854518 AURKA Activation by TPX2
SIGNORiO15078

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CEP290 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CEP290

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
80184
PharosiO15078

Protein Ontology

More...
PROi
PR:O15078

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000198707 Expressed in 214 organ(s), highest expression level in corpus callosum
ExpressionAtlasiO15078 baseline and differential
GenevisibleiO15078 HS

Family and domain databases

InterProiView protein in InterPro
IPR032321 Cep209_CC5
IPR026201 Cep290
PANTHERiPTHR18879 PTHR18879, 2 hits
PfamiView protein in Pfam
PF16574 CEP209_CC5, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCE290_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O15078
Secondary accession number(s): Q1PSK5
, Q66GS8, Q9H2G6, Q9H6Q7, Q9H8I0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: October 17, 2006
Last modified: November 13, 2019
This is version 179 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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
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