Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q9Y592 (CEP83_HUMAN)

Entry version 136 (07 Oct 2020)
Sequence version 3 (18 Jul 2018)
Previous versions | rss
Add a publicationFeedback
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 - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9Y592

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%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 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%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:CEP83
Synonyms:CCDC41
<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)
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000173588.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:17966, CEP83

Online Mendelian Inheritance in Man (OMIM)

More...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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y592, Tdark

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 or proteolytic cleavage.<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

More...EPDi		Q9Y592

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y592

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y592

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9Y592

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

More...PaxDbi		Q9Y592

PeptideAtlas

More...PeptideAtlasi		Q9Y592

PRoteomics IDEntifications database

More...PRIDEi		Q9Y592

ProteomicsDB: a multi-organism proteome resource

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

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y592

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

More...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 kidney and 193 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9Y592, 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

<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

Interacts with CEP164 and IFT20.

2 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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		119321, 31 interactors

Protein interaction database and analysis system

More...IntActi		Q9Y592, 34 interactors

Molecular INTeraction database

More...MINTi		Q9Y592

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000380911

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9Y592, 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

More...SMRi		Q9Y592

Database of comparative protein structure models

More...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		ENOG502QWE2, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154003

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y592

KEGG Orthology (KO)

More...KOi		K16754

Identification of Orthologs from Complete Genome Data

More...OMAi		LNEKQTH

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y592

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029631, Cep83

The PANTHER Classification System

More...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%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 4 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 4 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>
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.Curated
The sequence AAI25087 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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

More...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

More...CCDSi		CCDS41820.1 [Q9Y592-1]

NCBI Reference Sequences

More...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

More...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, 31 interactors
IntActiQ9Y592, 34 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

Antibodypedia a portal for validated antibodies

More...Antibodypediai		52583, 77 antibodies

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
EuPathDBiHostDB:ENSG00000173588.14

GeneCards: human genes, protein and diseases

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

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QWE2, Eukaryota
GeneTreeiENSGT00940000154003
InParanoidiQ9Y592
KOiK16754
OMAiLNEKQTH
PhylomeDBiQ9Y592

Enzyme and pathway databases

PathwayCommonsiQ9Y592
ReactomeiR-HSA-5620912, Anchoring of the basal body to the plasma membrane

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		51134, 2 hits in 873 CRISPR screens

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

More...ChiTaRSi		CEP83, human

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

More...GenomeRNAii		51134
PharosiQ9Y592, Tdark

Protein Ontology

More...PROi		PR:Q9Y592
RNActiQ9Y592, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000173588, Expressed in kidney and 193 other tissues
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

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 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%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: May 16, 2006
Last sequence update: July 18, 2018
Last modified: October 7, 2020
This is version 136 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

Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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