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Entry version 140 (12 Aug 2020)
Sequence version 2 (31 Oct 2006)
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Protein

Centrosomal protein of 290 kDa

Gene

Cep290

Organism
Mus musculus (Mouse)
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 (PubMed:21565611). Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (By similarity). 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 (By similarity). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (PubMed:16632484). Required for efficient recruitment of RAB8A to primary cilium (By similarity). In the ciliary transition zone is part of the tectonic-like complex (also named B9 complex) which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (PubMed:21725307). 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 (By similarity). Activates ATF4-mediated transcription (By similarity).By similarity3 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, Transcription, Transcription regulation, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

<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
Recommended name:
Centrosomal protein of 290 kDa
Short name:
Cep290
Alternative name(s):
Bardet-Biedl syndrome 14 protein homolog
Nephrocystin-6
<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
Synonyms:Kiaa0373Imported, Nphp6By similarity
<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>OrganismiMus musculus (Mouse)
<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 identifieri10090 [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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
<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
  • UP000000589 <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 10

Organism-specific databases

Mouse genome database (MGD) from Mouse Genome Informatics (MGI)

More...
MGIi
MGI:2384917, Cep290

<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

Defects in Cep290 are a cause of early-onset retinal degeneration with autosomal recessive inheritance. The rd16 mutant carries a deletion of residues 1599-1897 in the Cep290 protein. Homozygous rd16 mice are characterized by the appearance of white retinal vessels at 1 month of age and large pigment patches at 2 months. Retinal degeneration is apparent as early as postnatal day 19 and progresses with age. The rd16 retina exhibits altered distribution of Rpgr and phototransduction proteins within the photoreceptor cells.

<p>This subsection of the 'Pathology and Biotech' section describes the in vivo effects caused by ablation of the gene (or one or more transcripts) coding for the protein described in the entry. This includes gene knockout and knockdown, provided experiments have been performed in the context of a whole organism or a specific tissue, and not at the single-cell level.<p><a href='/help/disruption_phenotype' target='_top'>More...</a></p>Disruption phenotypei

Knockout mice appear healthy overall with some runting and a retinal degeneration phenotype. During embryonic development, at 16.5 dpc, they show defective midline fusion. Adult animals show a mild foliation defect in the cerebellum.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi7W → C: Centrosomal localization retained. 1 Publication1

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002580131 – 2472Centrosomal protein of 290 kDaAdd BLAST2472

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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 (By similarity).By similarity

Keywords - PTMi

Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6A078

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

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PaxDbi
Q6A078

PRoteomics IDEntifications database

More...
PRIDEi
Q6A078

PTM databases

CarbonylDB database of protein carbonylation sites

More...
CarbonylDBi
Q6A078

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6A078

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

More...
PhosphoSitePlusi
Q6A078

<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

Expressed in multiple organs during early postnatal development, with highest levels in hindbrain.1 Publication

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Similar levels from 7 dpc to 17 dpc in whole embryo and brain. In the cerebellum, expressed most strongly in dividing cells of the external granule layer.1 Publication

<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%5Fsection">'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%5Fsection">'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) (PubMed:21725307).

Interacts with ATF4 via its N-terminal region (By similarity). Associates with the BBSome complex, interacting (via N-terminus) with BBS4 (By similarity).

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 (PubMed:21565611).

Interacts with ZNF423, FAM161A, CEP162, CEP162, CEP131, TALPID3, CCDC13, CC2D2A, RPGRIP1 (By similarity). Can self-associate (homo- or heteromeric) (By similarity).

Interacts with CCP110; required for suppressing cilia formation (By similarity).

Interacts with RPGR (PubMed:16632484). Associates (via C-terminus) with microtubules; 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 (By similarity).

Interacts with FAM161A (By similarity).

Interacts with PCM1 (PubMed:17705300).

Interacts with CCDC66 (By similarity).

By similarity4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
229729, 48 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q6A078

Database of interacting proteins

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DIPi
DIP-46317N

Protein interaction database and analysis system

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IntActi
Q6A078, 43 interactors

STRING: functional protein association networks

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STRINGi
10090.ENSMUSP00000130899

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q6A078, protein

<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
Q6A078

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 – 689Self-association (with itself or C-terminus)By similarityAdd BLAST689
Regioni690 – 890Interaction with IQCB1By similarityAdd BLAST201
Regioni1960 – 2472Self-association (with itself or N-terminus)By similarityAdd BLAST513

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 – 747Sequence analysisAdd BLAST689
Coiled coili1129 – 1392Sequence analysisAdd BLAST264
Coiled coili1459 – 1492Sequence analysisAdd BLAST34

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG502QPTZ, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00730000111039

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q6A078

KEGG Orthology (KO)

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KOi
K16533

Identification of Orthologs from Complete Genome Data

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OMAi
FHDDQQR

Database of Orthologous Groups

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OrthoDBi
27774at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6A078

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

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PANTHERi
PTHR18879, PTHR18879, 1 hit

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>Sequences (2+)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 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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 11 Publication (identifier: Q6A078-1) [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
MPPNIKWKEL IKVDPDDLPR QEELADKLLI SLSKVEVNEL KNEDQENMIH
60 70 80 90 100
LFRITQSLMK MKAQEVELAL EEVEKAGEEQ AKFENQLKTK VMKLENELEM
110 120 130 140 150
AQQSAGGRDT RFLRDEIRQL EKQLEQKDRE LEDMEKELDK EKKVNEQLAL
160 170 180 190 200
RNEEAENENS KLRRENEQLR QDIIDYQKQI DSQKESLLSR RGEDSDYRSQ
210 220 230 240 250
LSKKNYELVQ YLDEIQTLTE ANEKIEVQNQ EMRKNLEESV QEMEKMTDEY
260 270 280 290 300
NRMKALVHQS DAVMDQIKKE NEHYRLQVRE LTDLLKAKDE EDDPVMMAVN
310 320 330 340 350
AKVEEWKLIL SSKDDEIIEY QQMLQSLRGK LKNAQLDADK SNIMALKQGI
360 370 380 390 400
QERDSQIKML TEQVEQYTKE MEKNTFIIED LKNELQKDKG TSNFYQQTHY
410 420 430 440 450
MKIHSKVQIL EEKTKEAERI AELAEADARE KDKELVEALK RLKDYESGVY
460 470 480 490 500
GLEDAVIEIK NCKAQIKIRD GEMEVLTKEI NKLEMKINDI LDENEALRER
510 520 530 540 550
AGLEPKTMID LTEFRNSKRL KQQQYRAENQ VLLKEIESLE EERLDLKRKI
560 570 580 590 600
RQMAQERGKR NAASGLTIDD LNLSETFSHE NKIEGRKLNF MSLNNMNETQ
610 620 630 640 650
SKNEFLSREL AEKEKDLERS RTVIAKFQSK LKELVEENKQ LEEGMKEILQ
660 670 680 690 700
AIKDMPKDSD VKGGETSLII PSLERLVNAM ESKNAEGIFD ASLHLKAQVD
710 720 730 740 750
QLTGRNEELR QELRQSRKEA VNYSQQLVKA NLKIDHLEKE TDLLRQSAGS
760 770 780 790 800
NVVYKGIDLP DGIAPSSAYI INSQNEYLIH LLQELDNKEK KLKHLEDSLE
810 820 830 840 850
DYNRKFAVIR HQQSLLYKEY LSEKDIWKTD SEMIREEKRK LEDQAEQDAV
860 870 880 890 900
KVKEYNNLLS ALQMDSNEMK KMLSENSRKI TVLQVNEKSL IRQYTTLVEM
910 920 930 940 950
ERHLRKENGK HRNDVIAMEA EVTEKLGSLQ RFKEMAIFKI AALQKVIDNS
960 970 980 990 1000
VSLSELELAN KQYNELTTKY RDILQKDNML VQRTSNLEHL ECENASLKEQ
1010 1020 1030 1040 1050
MEAISKELEI TKEKLHTIEQ AWEQETKLGN DSNMDKAKKS MTNSDIVSIS
1060 1070 1080 1090 1100
KKITVLEMKE LNERQRAEHC QKMYEHLRTS LKQMEERNFE LETKFTELTK
1110 1120 1130 1140 1150
INLDAQKVEQ MLRDELADSV TKAVSDADRQ RILELEKSEV ELKVEVSKLR
1160 1170 1180 1190 1200
EISDIAKRQV DFLNSQQQSR EKEVESLRTQ LLDFQAQSDE KALIAKLHQH
1210 1220 1230 1240 1250
VVSLQISEAT ALGKLESVTS KLQKMEAYNL RLEQKLDEKE QALYYARLEG
1260 1270 1280 1290 1300
RNRAKHLRQT IQSLRRQFSG ALPLAQQEKF SKTMIQLQND KLKIMQEMKN
1310 1320 1330 1340 1350
SQQEHRNMEN KTLELELKLK GLEELISTLK DARGAQKVIN WHVKIEELRL
1360 1370 1380 1390 1400
QELKLNRELV KGKEEIKYLN NIISEYEHTI NSLEEEIVQQ SKFHEERQMA
1410 1420 1430 1440 1450
WDQREVELER QLDIFDHQQN EILSAAQKFE DSTGSMPDPS LPLPNQLEIA
1460 1470 1480 1490 1500
LRKIKENIQV ILKTQATCKS LEEKLKEKES ALRLAEQNIL SRDKVINELR
1510 1520 1530 1540 1550
LRLPATADRE KLIAELERKE LEPKSHHTMK IAHQTIANMQ ARLNHKEEVL
1560 1570 1580 1590 1600
KKYQHLLEKA REEQREIVKK HEEDLHVLHH KLEQQADNSL NKFRQTAQDL
1610 1620 1630 1640 1650
LKQSPAPVPT NKHFIRLAEM EQTVAEQDDS LSSLLTKLKK VSKDLEKQKE
1660 1670 1680 1690 1700
ITELKVREFE NTKLRLQETH ASEVKKVKAE VEDLRHALAQ AHKDSQSLKS
1710 1720 1730 1740 1750
ELQAQKEANS RAPTTTMRNL VDRLKSQLAL KEKQQKALSR ALLELRSEMT
1760 1770 1780 1790 1800
AAAEERIIAV TSQKEANLNV QQVVERHTRE LKSQIEDLNE NLLKLKEALK
1810 1820 1830 1840 1850
TSKNKENSLA DDLNELNNEL QKKQKAYNKI LREKDGIDQE NDELRRQIKR
1860 1870 1880 1890 1900
LSSGLQSKTL IDNKQSLIDE LQKKVKKLES QLERKVDDVD IKPVKEKSSK
1910 1920 1930 1940 1950
EELIRWEEGK KWQTKVEGLR NRLKEKEGEA HGLAKQLNTL KELFAKADKE
1960 1970 1980 1990 2000
KLTLQKKLKT TGMTVDQVLG VRALESEKEL EELKKKNLDL ENDILYMRTQ
2010 2020 2030 2040 2050
QALPRDSVVE DLHLQNKYLQ EKLHTLEKKL SKEKYSQSLT SEIESDDHCQ
2060 2070 2080 2090 2100
KEQELQKENL KLSSENIELK FQLEQANKDL PRLKNQVKDL KEMCEFLKKG
2110 2120 2130 2140 2150
KLELERKLGQ VRGAGRSGKT IPELEKTIGL MKKVVEKVQR ENEQLKKASG
2160 2170 2180 2190 2200
ILTSEKMATI EEENRNLKAE LEKLKAHFGR QLSMQFESKN KGTEKIVAEN
2210 2220 2230 2240 2250
ERLRKELKKE IEASEKLRIA KNNLELVNDK MAAQLEETGK RLQFAESRAP
2260 2270 2280 2290 2300
QLEGADSKSW KSIVVSRVYE TKMKELESDI AKKNQSITDL KQLVREATER
2310 2320 2330 2340 2350
EQKAKKYTED LEQQIEILKN VPEGAETEQE LIRELQLLRL ANNQMDKERA
2360 2370 2380 2390 2400
ELIHQIEINK DQTRADSSIP DSDQLKEKIN DLETQLRKLE LEKQHSKEEV
2410 2420 2430 2440 2450
KKLKKELENF DPSFFEEIED LKYNYKEEVK KNILLEEKLK KLSEQFGFEL
2460 2470
PSPLAASEHS EDGESPHSFP IY
Length:2,472
Mass (Da):289,077
Last modified:October 31, 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:iD6ABC2C8A86340A0
GO
Isoform 21 Publication (identifier: Q6A078-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1664: Missing.
     1665-1665: R → M

Show »
Length:808
Mass (Da):93,782
Checksum:iB3AE0E431A7E365F
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9Q9M0E9Q9M0_MOUSE
Centrosomal protein of 290 kDa
Cep290
2,479Annotation 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>
A0A1W2P6U7A0A1W2P6U7_MOUSE
Centrosomal protein of 290 kDa
Cep290
237Annotation 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>

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 conflicti1425A → P in BAD32218 (PubMed:15368895).Curated1
Sequence conflicti1470S → A in BAD32218 (PubMed:15368895).Curated1
Sequence conflicti1533H → Q in BAD32218 (PubMed:15368895).Curated1
Sequence conflicti1544N → T in BAD32218 (PubMed:15368895).Curated1
Sequence conflicti1559K → R in BAD32218 (PubMed:15368895).Curated1
Sequence conflicti1686H → N in BAD32218 (PubMed:15368895).Curated1
Sequence conflicti2037Q → E in BAD32218 (PubMed:15368895).Curated1
Sequence conflicti2134V → L in BAD32218 (PubMed:15368895).Curated1
Sequence conflicti2158A → G in BAD32218 (PubMed:15368895).Curated1
Sequence conflicti2345M → L in BAD32218 (PubMed:15368895).Curated1
Sequence conflicti2389L → S in BAD32218 (PubMed:15368895).Curated1

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_0521881 – 1664Missing in isoform 2. 1 PublicationAdd BLAST1664
Alternative sequenceiVSP_0521891665R → M in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AK029960 mRNA Translation: BAC26700.1
AC153501 Genomic DNA No translation available.
AK172940 mRNA Translation: BAD32218.1

NCBI Reference Sequences

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RefSeqi
NP_666121.2, NM_146009.2
XP_006513591.1, XM_006513528.2 [Q6A078-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENSMUST00000219765; ENSMUSP00000151712; ENSMUSG00000019971 [Q6A078-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
216274

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
mmu:216274

UCSC genome browser

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UCSCi
uc007gxw.2, mouse [Q6A078-2]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AK029960 mRNA Translation: BAC26700.1
AC153501 Genomic DNA No translation available.
AK172940 mRNA Translation: BAD32218.1
RefSeqiNP_666121.2, NM_146009.2
XP_006513591.1, XM_006513528.2 [Q6A078-1]

3D structure databases

SMRiQ6A078
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi229729, 48 interactors
CORUMiQ6A078
DIPiDIP-46317N
IntActiQ6A078, 43 interactors
STRINGi10090.ENSMUSP00000130899

PTM databases

CarbonylDBiQ6A078
iPTMnetiQ6A078
PhosphoSitePlusiQ6A078

Proteomic databases

jPOSTiQ6A078
PaxDbiQ6A078
PRIDEiQ6A078

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
29900, 240 antibodies

Genome annotation databases

EnsembliENSMUST00000219765; ENSMUSP00000151712; ENSMUSG00000019971 [Q6A078-1]
GeneIDi216274
KEGGimmu:216274
UCSCiuc007gxw.2, mouse [Q6A078-2]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
80184
MGIiMGI:2384917, Cep290

Rodent Unidentified Gene-Encoded large proteins database

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Rougei
Search...

Phylogenomic databases

eggNOGiENOG502QPTZ, Eukaryota
GeneTreeiENSGT00730000111039
InParanoidiQ6A078
KOiK16533
OMAiFHDDQQR
OrthoDBi27774at2759
PhylomeDBiQ6A078

Enzyme and pathway databases

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

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
216274, 4 hits in 20 CRISPR screens

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

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ChiTaRSi
Cep290, mouse

Protein Ontology

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PROi
PR:Q6A078
RNActiQ6A078, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Family and domain databases

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

ProtoNet; Automatic hierarchical classification of proteins

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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_MOUSE
<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: Q6A078
Secondary accession number(s): Q8BIB8
<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/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: August 12, 2020
This is version 140 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

<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

Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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