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Entry version 128 (18 Sep 2019)
Sequence version 3 (18 Jul 2018)
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Protein

Centrosomal protein of 83 kDa

Gene

CEP83

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

Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. May collaborate with IFT20 in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium during the initiation of primary cilium assembly.2 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 - 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/degradation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5620912 Anchoring of the basal body to the plasma membrane

<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 83 kDa
Short name:
Cep83
Alternative name(s):
Coiled-coil domain-containing protein 41
Renal carcinoma antigen NY-REN-58
<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:CEP83
Synonyms:CCDC41
<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:17966 CEP83

Online Mendelian Inheritance in Man (OMIM)

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MIMi
615847 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y592

<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

Cytoplasm, Cytoskeleton

<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

Nephronophthisis 18 (NPHP18)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients.
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_07126687L → P in NPHP18; does not affect interaction with CEP164 and IFT20. 1 Publication1
Natural variantiVAR_071267112 – 117Missing in NPHP18; does not affect interaction with CEP164 and IFT20. 1 Publication6
Natural variantiVAR_071268511R → P in NPHP18; does not interact with CEP164 and IFT20. 1 PublicationCorresponds to variant dbSNP:rs587777487EnsemblClinVar.1
Natural variantiVAR_071269684Missing in NPHP18; accumulates in the nucleus. 1 Publication1
Natural variantiVAR_071270692Missing in NPHP18; accumulates in the nucleus; does not interact with CEP164 and IFT20. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation, Nephronophthisis

Organism-specific databases

DisGeNET

More...
DisGeNETi
51134

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

More...
GeneReviewsi
CEP83

MalaCards human disease database

More...
MalaCardsi
CEP83
MIMi615862 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000173588

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

More...
Orphaneti
93591 Infantile nephronophthisis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672158

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CEP83

Domain mapping of disease mutations (DMDM)

More...
DMDMi
97045295

<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_00002344951 – 701Centrosomal protein of 83 kDaAdd BLAST701

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei698PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9Y592

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9Y592

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9Y592

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9Y592

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

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PaxDbi
Q9Y592

PeptideAtlas

More...
PeptideAtlasi
Q9Y592

PRoteomics IDEntifications database

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PRIDEi
Q9Y592

ProteomicsDB human proteome resource

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ProteomicsDBi
86318 [Q9Y592-1]
86319 [Q9Y592-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9Y592

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

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PhosphoSitePlusi
Q9Y592

<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
ENSG00000173588 Expressed in 181 organ(s), highest expression level in kidney

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9Y592 baseline and differential

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038161

<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

Interacts with CEP164 and IFT20.

2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
119321, 23 interactors

Protein interaction database and analysis system

More...
IntActi
Q9Y592, 33 interactors

Molecular INTeraction database

More...
MINTi
Q9Y592

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000380911

<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
Q9Y592

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

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 coili40 – 634Sequence analysisAdd BLAST595
Coiled coili665 – 698Sequence analysisAdd BLAST34

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CEP83 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IH7C Eukaryota
ENOG410XX59 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154003

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000111412

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y592

KEGG Orthology (KO)

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KOi
K16754

Identification of Orthologs from Complete Genome Data

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OMAi
LKHSHKL

Database of Orthologous Groups

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OrthoDBi
1094723at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9Y592

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR029631 Cep83

The PANTHER Classification System

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PANTHERi
PTHR23170:SF2 PTHR23170:SF2, 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 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y592-1) [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
MVVSTFTDMD TFPNNFPPGG DSGLTGSQSE FQKMLIDERL RCEHHKANYQ
60 70 80 90 100
TLKAEHTRLQ NEHVKLQNEL KHLFNEKQTQ QEKLQLLLEE LRGELVEKTK
110 120 130 140 150
DLEEMKLQIL TPQKLELLRA QIQQELETPM RERFRNLDEE VEKYRAVYNK
160 170 180 190 200
LRYEHTFLKS EFEHQKEEYA RILDEGKIKY ESEIARLEED KEELRNQLLN
210 220 230 240 250
VDLTKDSKRV EQLAREKVYL CQKLKGLEAE VAELKAEKEN SEAQVENAQR
260 270 280 290 300
IQVRQLAEMQ ATVRSLEAEK QSANLRAERL EKELQSSSEQ NTFLINKLHK
310 320 330 340 350
AEREINTLSS KVKELKHSNK LEITDIKLET ARAKSELERE RNKIQSELDG
360 370 380 390 400
LQSDNEILKA AVEHHKVLLV EKDRELIRKV QAAKEEGYQK LVVLQDEKLE
410 420 430 440 450
LENRLADLEK MKVEHDVWRQ SEKDQYEEKL RASQMAEEIT RKELQSVRLK
460 470 480 490 500
LQQQIVTIEN AEKEKNENSD LKQQISSLQI QVTSLAQSEN DLLNSNQMLK
510 520 530 540 550
EMVERLKQEC RNFRSQAEKA QLEAEKTLEE KQIQWLEEKH KLHERITDRE
560 570 580 590 600
EKYNQAKEKL QRAAIAQKKR KSLHENKLKR LQEKVEVLEA KKEELETENQ
610 620 630 640 650
VLNRQNVPFE DYTRLQKRLK DIQRRHNEFR SLILVPNMPP TASINPVSFQ
660 670 680 690 700
SSAMVPSMEL PFPPHMQEEQ HQRELSLLRK RLEELETTQR KQLEELGSSG

E
Length:701
Mass (Da):82,940
Last modified:July 18, 2018 - v3
<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:iDF757C84BE784D07
GO
Isoform 2 (identifier: Q9Y592-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-33: Missing.
     570-601: RKSLHENKLKRLQEKVEVLEAKKEELETENQV → LEQDLELGCPSVTDTYRESVFPPPPLKRDLLK
     602-693: Missing.

Show »
Length:576
Mass (Da):68,196
Checksum:iED023059A73CF220
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VYN8F8VYN8_HUMAN
Centrosomal protein of 83 kDa
CEP83
352Annotation 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>
J3KNW7J3KNW7_HUMAN
Centrosomal protein of 83 kDa
CEP83
701Annotation 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>
A0A338VFC5A0A338VFC5_HUMAN
Centrosomal protein of 83 kDa
CEP83
568Annotation 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>
H0YHH5H0YHH5_HUMAN
Centrosomal protein of 83 kDa
CEP83
165Annotation 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>
A0A0A0MS84A0A0A0MS84_HUMAN
Centrosomal protein of 83 kDa
CEP83
472Annotation 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 AAD42881 differs from that shown. Reason: Frameshift at positions 113, 598 and 609.Curated
The sequence AAI25087 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 conflicti267E → G in AAD42881 (PubMed:10508479).Curated1
Sequence conflicti344I → L in AAD42881 (PubMed:10508479).Curated1
Sequence conflicti544E → D in AAD42881 (PubMed:10508479).Curated1
Sequence conflicti545R → C in AAI25087 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05839778Q → R. Corresponds to variant dbSNP:rs2271979Ensembl.1
Natural variantiVAR_07126687L → P in NPHP18; does not affect interaction with CEP164 and IFT20. 1 Publication1
Natural variantiVAR_071267112 – 117Missing in NPHP18; does not affect interaction with CEP164 and IFT20. 1 Publication6
Natural variantiVAR_071268511R → P in NPHP18; does not interact with CEP164 and IFT20. 1 PublicationCorresponds to variant dbSNP:rs587777487EnsemblClinVar.1
Natural variantiVAR_071269684Missing in NPHP18; accumulates in the nucleus. 1 Publication1
Natural variantiVAR_071270692Missing in NPHP18; accumulates in the nucleus; does not interact with CEP164 and IFT20. 1 Publication1

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_0377601 – 33Missing in isoform 2. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_037761570 – 601RKSLH…TENQV → LEQDLELGCPSVTDTYRESV FPPPPLKRDLLK in isoform 2. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_037762602 – 693Missing in isoform 2. 1 PublicationAdd BLAST92

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
AF155115 mRNA Translation: AAD42881.1 Frameshift.
AC073655 Genomic DNA No translation available.
BC053614 mRNA No translation available.
BC125086 mRNA Translation: AAI25087.1 Different initiation.
BC125087 mRNA Translation: AAI25088.1
AK056316 mRNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS41820.1 [Q9Y592-1]

NCBI Reference Sequences

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RefSeqi
NP_001035858.1, NM_001042399.1 [Q9Y592-1]
NP_001333386.1, NM_001346457.1 [Q9Y592-1]
NP_057206.2, NM_016122.2 [Q9Y592-1]
XP_011536726.1, XM_011538424.1 [Q9Y592-1]
XP_016874874.1, XM_017019385.1 [Q9Y592-1]
XP_016874875.1, XM_017019386.1 [Q9Y592-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000339839; ENSP00000344655; ENSG00000173588 [Q9Y592-1]
ENST00000397809; ENSP00000380911; ENSG00000173588 [Q9Y592-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
51134

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:51134

UCSC genome browser

More...
UCSCi
uc058ruu.1 human [Q9Y592-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF155115 mRNA Translation: AAD42881.1 Frameshift.
AC073655 Genomic DNA No translation available.
BC053614 mRNA No translation available.
BC125086 mRNA Translation: AAI25087.1 Different initiation.
BC125087 mRNA Translation: AAI25088.1
AK056316 mRNA No translation available.
CCDSiCCDS41820.1 [Q9Y592-1]
RefSeqiNP_001035858.1, NM_001042399.1 [Q9Y592-1]
NP_001333386.1, NM_001346457.1 [Q9Y592-1]
NP_057206.2, NM_016122.2 [Q9Y592-1]
XP_011536726.1, XM_011538424.1 [Q9Y592-1]
XP_016874874.1, XM_017019385.1 [Q9Y592-1]
XP_016874875.1, XM_017019386.1 [Q9Y592-1]

3D structure databases

SMRiQ9Y592
ModBaseiSearch...

Protein-protein interaction databases

BioGridi119321, 23 interactors
IntActiQ9Y592, 33 interactors
MINTiQ9Y592
STRINGi9606.ENSP00000380911

PTM databases

iPTMnetiQ9Y592
PhosphoSitePlusiQ9Y592

Polymorphism and mutation databases

BioMutaiCEP83
DMDMi97045295

Proteomic databases

EPDiQ9Y592
jPOSTiQ9Y592
MassIVEiQ9Y592
MaxQBiQ9Y592
PaxDbiQ9Y592
PeptideAtlasiQ9Y592
PRIDEiQ9Y592
ProteomicsDBi86318 [Q9Y592-1]
86319 [Q9Y592-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000339839; ENSP00000344655; ENSG00000173588 [Q9Y592-1]
ENST00000397809; ENSP00000380911; ENSG00000173588 [Q9Y592-1]
GeneIDi51134
KEGGihsa:51134
UCSCiuc058ruu.1 human [Q9Y592-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
51134
DisGeNETi51134

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CEP83
GeneReviewsiCEP83
HGNCiHGNC:17966 CEP83
HPAiHPA038161
MalaCardsiCEP83
MIMi615847 gene
615862 phenotype
neXtProtiNX_Q9Y592
OpenTargetsiENSG00000173588
Orphaneti93591 Infantile nephronophthisis
PharmGKBiPA142672158

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IH7C Eukaryota
ENOG410XX59 LUCA
GeneTreeiENSGT00940000154003
HOGENOMiHOG000111412
InParanoidiQ9Y592
KOiK16754
OMAiLKHSHKL
OrthoDBi1094723at2759
PhylomeDBiQ9Y592

Enzyme and pathway databases

ReactomeiR-HSA-5620912 Anchoring of the basal body to the plasma membrane

Miscellaneous databases

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

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ChiTaRSi
CEP83 human

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

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GenomeRNAii
51134

Pharos

More...
Pharosi
Q9Y592

Protein Ontology

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PROi
PR:Q9Y592

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000173588 Expressed in 181 organ(s), highest expression level in kidney
ExpressionAtlasiQ9Y592 baseline and differential

Family and domain databases

InterProiView protein in InterPro
IPR029631 Cep83
PANTHERiPTHR23170:SF2 PTHR23170:SF2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiCEP83_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: Q9Y592
Secondary accession number(s): A4FVB1, Q08AP1
<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: May 16, 2006
Last sequence update: July 18, 2018
Last modified: September 18, 2019
This is version 128 of the entry and version 3 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  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
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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