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Entry version 144 (18 Sep 2019)
Sequence version 3 (04 Dec 2007)
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Protein

Centrosomal protein of 164 kDa

Gene

CEP164

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

Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1.3 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 processCell cycle, Cell division, Cilium biogenesis/degradation, DNA damage, DNA repair, Mitosis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-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_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 164 kDa
Short name:
Cep164
<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:CEP164
Synonyms:KIAA1052, NPHP15
<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 11

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:29182 CEP164

Online Mendelian Inheritance in Man (OMIM)

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MIMi
614848 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UPV0

<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, 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

Nephronophthisis 15 (NPHP15)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by the association of nephronophthisis with Leber congenital amaurosis and retinal degeneration, often resulting in blindness during childhood. Additional features include seizures, cerebellar vermis hypoplasia, facial dysmorphism, bronchiectasis and liver failure. Nephronophthisis is a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure.
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_06850311Q → P in NPHP15. 1 PublicationCorresponds to variant dbSNP:rs387907309EnsemblClinVar.1
Natural variantiVAR_06850493R → W in NPHP15. 1 PublicationCorresponds to variant dbSNP:rs387907310EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi186S → A: Prevents phosphorylation. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation, Nephronophthisis

Organism-specific databases

DisGeNET

More...
DisGeNETi
22897

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

More...
GeneReviewsi
CEP164

MalaCards human disease database

More...
MalaCardsi
CEP164
MIMi614845 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000110274

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

More...
Orphaneti
3156 Senior-Loken syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672127

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CEP164

Domain mapping of disease mutations (DMDM)

More...
DMDMi
162416241

<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_00003124941 – 1460Centrosomal protein of 164 kDaAdd BLAST1460

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 residuei186Phosphoserine; by ATR and ATM1 Publication1
Modified residuei201PhosphoserineCombined sources1
Modified residuei566PhosphoserineCombined sources1
Modified residuei1386PhosphoserineCombined sources1
Modified residuei1388PhosphoserineCombined sources1
Modified residuei1443PhosphoserineCombined sources1

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

Phosphorylation at Ser-186 is induced upon DNA-damage caused by treatment with IR irradiation, UV irradiation, hydroxyurea or amphidicolin. Also MDC1-mediated chromatin remodeling is critical for DNA damage-induced phosphorylation.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9UPV0

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9UPV0

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9UPV0

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

More...
PaxDbi
Q9UPV0

PeptideAtlas

More...
PeptideAtlasi
Q9UPV0

PRoteomics IDEntifications database

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PRIDEi
Q9UPV0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
85453 [Q9UPV0-1]
85454 [Q9UPV0-2]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
Q9UPV0

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UPV0

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

More...
PhosphoSitePlusi
Q9UPV0

<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 several cell lines.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000110274 Expressed in 205 organ(s), highest expression level in sperm

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UPV0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UPV0 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA037605
HPA037606
HPA061504

<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 (via N-terminus) with ATRIP.

Interacts with ATM, ATR and MDC1.

Interacts with XPA (via N-terminus) upon UV irradiation.

Interacts with CEP83, CCDC92, TTBK2, DVL3, NPHP3 and weakly with NPHP4.

4 Publications

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116561, 90 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9UPV0

Protein interaction database and analysis system

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IntActi
Q9UPV0, 88 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000278935

<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
Q9UPV0

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini56 – 89WWPROSITE-ProRule annotationAdd BLAST34

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 – 194Interaction with ATRIP1 PublicationAdd BLAST194

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 coili1154 – 1206Sequence analysisAdd BLAST53

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi110 – 122Lys-richAdd BLAST13
Compositional biasi468 – 955Glu-richAdd BLAST488

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IJHV Eukaryota
ENOG4111VEQ LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000183078

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000111523

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UPV0

KEGG Orthology (KO)

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KOi
K16462

Identification of Orthologs from Complete Genome Data

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OMAi
DPPGTKA

Database of Orthologous Groups

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OrthoDBi
907394at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9UPV0

TreeFam database of animal gene trees

More...
TreeFami
TF333034

Family and domain databases

Conserved Domains Database

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CDDi
cd00201 WW, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001202 WW_dom
IPR036020 WW_dom_sf

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00456 WW, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF51045 SSF51045, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50020 WW_DOMAIN_2, 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: Q9UPV0-1) [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
MAGRPLRIGD QLVLEEDYDE TYIPSEQEIL EFAREIGIDP IKEPELMWLA
60 70 80 90 100
REGIVAPLPG EWKPCQDITG DIYYFNFANG QSMWDHPCDE HYRSLVIQER
110 120 130 140 150
AKLSTSGAIK KKKKKKEKKD KKDRDPPKSS LALGSSLAPV HVPLGGLAPL
160 170 180 190 200
RGLVDTPPSA LRGSQSVSLG SSVESGRQLG ELMLPSQGLK TSAYTKGLLG
210 220 230 240 250
SIYEDKTALS LLGLGEETNE EDEEESDNQS VHSSSEPLRN LHLDIGALGG
260 270 280 290 300
DFEYEESLRT SQPEEKKDVS LDSDAAGPPT PCKPSSPGAD SSLSSAVGKG
310 320 330 340 350
RQGSGARPGL PEKEENEKSE PKICRNLVTP KADPTGSEPA KASEKEAPED
360 370 380 390 400
TVDAGEEGSR REEAAKEPKK KASALEEGSS DASQELEISE HMKEPQLSDS
410 420 430 440 450
IASDPKSFHG LDFGFRSRIS EHLLDVDVLS PVLGGACRQA QQPLGIEDKD
460 470 480 490 500
DSQSSQDELQ SKQSKGLEER LSPPLPHEER AQSPPRSLAT EEEPPQGPEG
510 520 530 540 550
QPEWKEAEEL GEDSAASLSL QLSLQREQAP SPPAACEKGK EQHSQAEELG
560 570 580 590 600
PGQEEAEDPE EKVAVSPTPP VSPEVRSTEP VAPPEQLSEA ALKAMEEAVA
610 620 630 640 650
QVLEQDQRHL LESKQEKMQQ LREKLCQEEE EEILRLHQQK EQSLSSLRER
660 670 680 690 700
LQKAIEEEEA RMREEESQRL SWLRAQVQSS TQADEDQIRA EQEASLQKLR
710 720 730 740 750
EELESQQKAE RASLEQKNRQ MLEQLKEEIE ASEKSEQAAL NAAKEKALQQ
760 770 780 790 800
LREQLEGERK EAVATLEKEH SAELERLCSS LEAKHREVVS SLQKKIQEAQ
810 820 830 840 850
QKEEAQLQKC LGQVEHRVHQ KSYHVAGYEH ELSSLLREKR QEVEGEHERR
860 870 880 890 900
LDKMKEEHQQ VMAKAREQYE AEERKQRAEL LGHLTGELER LQRAHERELE
910 920 930 940 950
TVRQEQHKRL EDLRRRHREQ ERKLQDLELD LETRAKDVKA RLALLEVQEE
960 970 980 990 1000
TARREKQQLL DVQRQVALKS EEATATHQQL EEAQKEHTHL LQSNQQLREI
1010 1020 1030 1040 1050
LDELQARKLK LESQVDLLQA QSQQLQKHFS SLEAEAQKKQ HLLREVTVEE
1060 1070 1080 1090 1100
NNASPHFEPD LHIEDLRKSL GTNQTKEVSS SLSQSKEDLY LDSLSSHNVW
1110 1120 1130 1140 1150
HLLSAEGVAL RSAKEFLVQQ TRSMRRRQTA LKAAQQHWRH ELASAQEVAK
1160 1170 1180 1190 1200
DPPGIKALED MRKNLEKETR HLDEMKSAMR KGHNLLKKKE EKLNQLESSL
1210 1220 1230 1240 1250
WEEASDEGTL GGSPTKKAVT FDLSDMDSLS SESSESFSPP HREWWRQQRI
1260 1270 1280 1290 1300
DSTPSLTSRK IHGLSHSLRQ ISSQLSSVLS ILDSLNPQSP PPLLASMPAQ
1310 1320 1330 1340 1350
LPPRDPKSTP TPTYYGSLAR FSALSSATPT STQWAWDSGQ GPRLPSSVAQ
1360 1370 1380 1390 1400
TVDDFLLEKW RKYFPSGIPL LSNSPTPLES RLGYMSASEQ LRLLQHSHSQ
1410 1420 1430 1440 1450
VPEAGSTTFQ GIIEANRRWL ERVKNDPRLP LFSSTPKPKA TLSLLQLGLD
1460
EHNRVKVYRF
Length:1,460
Mass (Da):164,314
Last modified:December 4, 2007 - 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:i7A4F91E1CB7D1E43
GO
Isoform 2 (identifier: Q9UPV0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     469-469: E → ERYH
     1242-1250: REWWRQQRI → L

Show »
Length:1,455
Mass (Da):163,544
Checksum:i7F48093100C34819
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
A0A1W2PQ68A0A1W2PQ68_HUMAN
Centrosomal protein of 164 kDa
CEP164
727Annotation 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>
E9PIM2E9PIM2_HUMAN
Centrosomal protein of 164 kDa
CEP164
122Annotation 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>
E9PR73E9PR73_HUMAN
Centrosomal protein of 164 kDa
CEP164
158Annotation 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>
E9PI05E9PI05_HUMAN
Centrosomal protein of 164 kDa
CEP164
115Annotation 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>
E9PLS8E9PLS8_HUMAN
Centrosomal protein of 164 kDa
CEP164
121Annotation 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 AAH00602 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH54015 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAA83004 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA91677 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAB56023 differs from that shown. Reason: Erroneous initiation.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 conflicti110K → N in AAH54015 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06850311Q → P in NPHP15. 1 PublicationCorresponds to variant dbSNP:rs387907309EnsemblClinVar.1
Natural variantiVAR_06850493R → W in NPHP15. 1 PublicationCorresponds to variant dbSNP:rs387907310EnsemblClinVar.1
Natural variantiVAR_03751194S → N. Corresponds to variant dbSNP:rs490262EnsemblClinVar.1
Natural variantiVAR_037512988T → S1 PublicationCorresponds to variant dbSNP:rs2305830EnsemblClinVar.1
Natural variantiVAR_0375131119Q → R2 PublicationsCorresponds to variant dbSNP:rs573455EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_029843469E → ERYH in isoform 2. 2 Publications1
Alternative sequenceiVSP_0298441242 – 1250REWWRQQRI → L in isoform 2. 2 Publications9

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
AB028975 mRNA Translation: BAA83004.2 Different initiation.
AP000892 Genomic DNA No translation available.
AP001822 Genomic DNA No translation available.
BC000602 mRNA Translation: AAH00602.1 Sequence problems.
BC054015 mRNA Translation: AAH54015.1 Sequence problems.
AL117632 mRNA Translation: CAB56023.1 Different initiation.
AK001412 mRNA Translation: BAA91677.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31683.1 [Q9UPV0-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T17333

NCBI Reference Sequences

More...
RefSeqi
NP_001258862.1, NM_001271933.1 [Q9UPV0-2]
NP_055771.4, NM_014956.4 [Q9UPV0-1]
XP_005271513.1, XM_005271456.1 [Q9UPV0-1]
XP_005271514.1, XM_005271457.1 [Q9UPV0-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000278935; ENSP00000278935; ENSG00000110274 [Q9UPV0-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
22897

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:22897

UCSC genome browser

More...
UCSCi
uc001prc.4 human [Q9UPV0-1]

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
AB028975 mRNA Translation: BAA83004.2 Different initiation.
AP000892 Genomic DNA No translation available.
AP001822 Genomic DNA No translation available.
BC000602 mRNA Translation: AAH00602.1 Sequence problems.
BC054015 mRNA Translation: AAH54015.1 Sequence problems.
AL117632 mRNA Translation: CAB56023.1 Different initiation.
AK001412 mRNA Translation: BAA91677.1 Different initiation.
CCDSiCCDS31683.1 [Q9UPV0-1]
PIRiT17333
RefSeqiNP_001258862.1, NM_001271933.1 [Q9UPV0-2]
NP_055771.4, NM_014956.4 [Q9UPV0-1]
XP_005271513.1, XM_005271456.1 [Q9UPV0-1]
XP_005271514.1, XM_005271457.1 [Q9UPV0-2]

3D structure databases

SMRiQ9UPV0
ModBaseiSearch...

Protein-protein interaction databases

BioGridi116561, 90 interactors
CORUMiQ9UPV0
IntActiQ9UPV0, 88 interactors
STRINGi9606.ENSP00000278935

PTM databases

CarbonylDBiQ9UPV0
iPTMnetiQ9UPV0
PhosphoSitePlusiQ9UPV0

Polymorphism and mutation databases

BioMutaiCEP164
DMDMi162416241

Proteomic databases

EPDiQ9UPV0
jPOSTiQ9UPV0
MassIVEiQ9UPV0
PaxDbiQ9UPV0
PeptideAtlasiQ9UPV0
PRIDEiQ9UPV0
ProteomicsDBi85453 [Q9UPV0-1]
85454 [Q9UPV0-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
22897
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000278935; ENSP00000278935; ENSG00000110274 [Q9UPV0-1]
GeneIDi22897
KEGGihsa:22897
UCSCiuc001prc.4 human [Q9UPV0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
22897
DisGeNETi22897

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CEP164
GeneReviewsiCEP164
HGNCiHGNC:29182 CEP164
HPAiHPA037605
HPA037606
HPA061504
MalaCardsiCEP164
MIMi614845 phenotype
614848 gene
neXtProtiNX_Q9UPV0
OpenTargetsiENSG00000110274
Orphaneti3156 Senior-Loken syndrome
PharmGKBiPA142672127

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IJHV Eukaryota
ENOG4111VEQ LUCA
GeneTreeiENSGT00950000183078
HOGENOMiHOG000111523
InParanoidiQ9UPV0
KOiK16462
OMAiDPPGTKA
OrthoDBi907394at2759
PhylomeDBiQ9UPV0
TreeFamiTF333034

Enzyme and pathway databases

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

Miscellaneous databases

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

More...
ChiTaRSi
CEP164 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CEP164

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

More...
GenomeRNAii
22897

Pharos

More...
Pharosi
Q9UPV0

Protein Ontology

More...
PROi
PR:Q9UPV0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000110274 Expressed in 205 organ(s), highest expression level in sperm
ExpressionAtlasiQ9UPV0 baseline and differential
GenevisibleiQ9UPV0 HS

Family and domain databases

CDDicd00201 WW, 1 hit
InterProiView protein in InterPro
IPR001202 WW_dom
IPR036020 WW_dom_sf
SMARTiView protein in SMART
SM00456 WW, 1 hit
SUPFAMiSSF51045 SSF51045, 1 hit
PROSITEiView protein in PROSITE
PS50020 WW_DOMAIN_2, 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 nameiCE164_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: Q9UPV0
Secondary accession number(s): Q6PKH9
, Q7Z2X9, Q9NVS0, Q9UFJ6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: December 4, 2007
Last modified: September 18, 2019
This is version 144 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. Human chromosome 11
    Human chromosome 11: 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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