Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 57 (07 Apr 2021)
Sequence version 2 (02 Dec 2020)
Previous versions | rss
Add a publicationFeedback
Protein
Submitted name:

Centrosomal protein of 290 kDa

Gene

CEP290

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

Annotation score:2 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

<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 - 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

Biological processCilium biogenesis/degradationARBA annotation

<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%5Fand%5Ftaxonomy%5Fsection">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
Submitted name:
Centrosomal protein of 290 kDaImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:CEP290Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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)Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

More...
HGNCi
HGNC:29021, CEP290

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000198707.14

<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

Keywords - Cellular componenti

Cell projectionARBA annotation, Cytoplasm, CytoskeletonARBA annotation

<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

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000198707

<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

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
J3KNF5

PeptideAtlas

More...
PeptideAtlasi
J3KNF5

PRoteomics IDEntifications database

More...
PRIDEi
J3KNF5

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000198707, Expressed in corpus callosum and 225 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
J3KNF5, baseline and differential

<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

Protein-protein interaction databases

Protein interaction database and analysis system

More...
IntActi
J3KNF5, 1 interactor

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1289 – 1416CEP209_CC5InterPro annotationAdd BLAST128

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>Regioni2037 – 2059DisorderedSequence analysisAdd BLAST23
Regioni2461 – 2482DisorderedSequence analysisAdd BLAST22

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 – 104Sequence analysisAdd BLAST46
Coiled coili117 – 193Sequence analysisAdd BLAST77
Coiled coili215 – 298Sequence analysisAdd BLAST84
Coiled coili317 – 351Sequence analysisAdd BLAST35
Coiled coili357 – 391Sequence analysisAdd BLAST35
Coiled coili413 – 447Sequence analysisAdd BLAST35
Coiled coili465 – 506Sequence analysisAdd BLAST42
Coiled coili528 – 565Sequence analysisAdd BLAST38
Coiled coili602 – 664Sequence analysisAdd BLAST63
Coiled coili698 – 753Sequence analysisAdd BLAST56
Coiled coili781 – 818Sequence analysisAdd BLAST38
Coiled coili830 – 878Sequence analysisAdd BLAST49
Coiled coili896 – 927Sequence analysisAdd BLAST32
Coiled coili962 – 982Sequence analysisAdd BLAST21
Coiled coili993 – 1027Sequence analysisAdd BLAST35
Coiled coili1073 – 1107Sequence analysisAdd BLAST35
Coiled coili1138 – 1158Sequence analysisAdd BLAST21
Coiled coili1221 – 1248Sequence analysisAdd BLAST28
Coiled coili1290 – 1331Sequence analysisAdd BLAST42
Coiled coili1349 – 1399Sequence analysisAdd BLAST51
Coiled coili1467 – 1494Sequence analysisAdd BLAST28
Coiled coili1535 – 1580Sequence analysisAdd BLAST46
Coiled coili1641 – 1714Sequence analysisAdd BLAST74
Coiled coili1727 – 1761Sequence analysisAdd BLAST35
Coiled coili1784 – 1860Sequence analysisAdd BLAST77
Coiled coili1867 – 1894Sequence analysisAdd BLAST28
Coiled coili1915 – 1935Sequence analysisAdd BLAST21
Coiled coili1977 – 1999Sequence analysisAdd BLAST23
Coiled coili2015 – 2035Sequence analysisAdd BLAST21
Coiled coili2075 – 2116Sequence analysisAdd BLAST42
Coiled coili2137 – 2164Sequence analysisAdd BLAST28
Coiled coili2166 – 2186Sequence analysisAdd BLAST21
Coiled coili2202 – 2257Sequence analysisAdd BLAST56
Coiled coili2275 – 2323Sequence analysisAdd BLAST49
Coiled coili2337 – 2371Sequence analysisAdd BLAST35
Coiled coili2381 – 2415Sequence analysisAdd BLAST35
Coiled coili2434 – 2454Sequence analysisAdd BLAST21

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi2038 – 2053PolarSequence analysisAdd BLAST16

Keywords - Domaini

Coiled coilSequence analysisARBA annotation

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00730000111039

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_228678_0_0_1

Identification of Orthologs from Complete Genome Data

More...
OMAi
FHDDQQR

Database for complete collections of gene phylogenies

More...
PhylomeDBi
J3KNF5

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR032321, Cep209_CC5
IPR026201, Cep290

The PANTHER Classification System

More...
PANTHERi
PTHR18879, PTHR18879, 3 hits

Pfam protein domain database

More...
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%5Flength">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>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 has 1 described isoform and 18 potential isoforms that are computationally mapped.Show allAlign All

J3KNF5-1 [UniParc]FASTAAdd to basket
« 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 YSKPSQNQIS
2060 2070 2080 2090 2100
GIESDDHCQR EQELQKENLK LSSENIELKF QLEQANKDLP RLKNQVRDLK
2110 2120 2130 2140 2150
EMCEFLKKEK AEVQRKLGHV RGSGRSGKTI PELEKTIGLM KKVVEKVQRE
2160 2170 2180 2190 2200
NEQLKKASGI LTSEKMANIE QENEKLKAEL EKLKAHLGHQ LSMHYESKTK
2210 2220 2230 2240 2250
GTEKIIAENE RLRKELKKET DAAEKLRIAK NNLEILNEKM TVQLEETGKR
2260 2270 2280 2290 2300
LQFAESRGPQ LEGADSKSWK SIVVTRMYET KLKELETDIA KKNQSITDLK
2310 2320 2330 2340 2350
QLVKEATERE QKVNKYNEDL EQQIKILKHV PEGAETEQGL KRELQVLRLA
2360 2370 2380 2390 2400
NHQLDKEKAE LIHQIEANKD QSGAESTIPD ADQLKEKIKD LETQLKMSDL
2410 2420 2430 2440 2450
EKQHLKEEIK KLKKELENFD PSFFEEIEDL KYNYKEEVKK NILLEEKVKK
2460 2470 2480
LSEQLGVELT SPVAASEEFE DEEESPVNFP IY
Length:2,482
Mass (Da):290,756
Last modified:December 2, 2020 - 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:iF55A032BBD1CC9FD
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 18 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
O15078CE290_HUMAN
Centrosomal protein of 290 kDa
CEP290 BBS14, KIAA0373, NPHP6
2,479Annotation 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>
A0A0A0MS86A0A0A0MS86_HUMAN
Centrosomal protein of 290 kDa
CEP290
590Annotation score:

Annotation score:2 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>
A0A6Q8PGB1A0A6Q8PGB1_HUMAN
Centrosomal protein of 290 kDa
CEP290
2,766Annotation score:

Annotation score:2 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>
A0A6Q8PH78A0A6Q8PH78_HUMAN
Centrosomal protein of 290 kDa
CEP290
2,735Annotation score:

Annotation score:2 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>
F8VS29F8VS29_HUMAN
Centrosomal protein of 290 kDa
CEP290
647Annotation 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>
A0A5F9ZHU6A0A5F9ZHU6_HUMAN
Centrosomal protein of 290 kDa
CEP290
2,438Annotation 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>
A0A5K1VW81A0A5K1VW81_HUMAN
Centrosomal protein of 290 kDa
CEP290
1,469Annotation 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>
A0A6Q8PG44A0A6Q8PG44_HUMAN
Centrosomal protein of 290 kDa
CEP290
2,267Annotation 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>
A0A6Q8PGC3A0A6Q8PGC3_HUMAN
Centrosomal protein of 290 kDa
CEP290
2,322Annotation 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>
There are more potential isoformsShow all

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AC091516 Genomic DNA No translation available.

NCBI Reference Sequences

More...
RefSeqi
XP_011537065.1, XM_011538763.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000309041; ENSP00000308021; ENSG00000198707

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
80184

UCSC genome browser

More...
UCSCi
uc058rnw.1, human

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC091516 Genomic DNA No translation available.
RefSeqiXP_011537065.1, XM_011538763.2

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

IntActiJ3KNF5, 1 interactor

Proteomic databases

MaxQBiJ3KNF5
PeptideAtlasiJ3KNF5
PRIDEiJ3KNF5

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
29900, 245 antibodies

Genome annotation databases

EnsembliENST00000309041; ENSP00000308021; ENSG00000198707
GeneIDi80184
UCSCiuc058rnw.1, human

Organism-specific databases

HGNCiHGNC:29021, CEP290
OpenTargetsiENSG00000198707
VEuPathDBiHostDB:ENSG00000198707.14

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00730000111039
HOGENOMiCLU_228678_0_0_1
OMAiFHDDQQR
PhylomeDBiJ3KNF5

Miscellaneous databases

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

More...
ChiTaRSi
CEP290, human

Gene expression databases

BgeeiENSG00000198707, Expressed in corpus callosum and 225 other tissues
ExpressionAtlasiJ3KNF5, baseline and differential

Family and domain databases

InterProiView protein in InterPro
IPR032321, Cep209_CC5
IPR026201, Cep290
PANTHERiPTHR18879, PTHR18879, 3 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 nameiJ3KNF5_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: J3KNF5
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/TrEMBL: October 3, 2012
Last sequence update: December 2, 2020
Last modified: April 7, 2021
This is version 57 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 statusiUnreviewed (UniProtKB/TrEMBL)
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

Proteomics identificationCombined sources, Reference proteomeImported
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again