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Protein

Centrosomal protein of 120 kDa

Gene

CEP120

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 the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis (By similarity). Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner (PubMed:27185865).By similarity1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...
MoonDBi
Q8N960 Predicted

<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 120 kDa
Short name:
Cep120
Alternative name(s):
Coiled-coil domain-containing protein 100
<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:CEP120
Synonyms:CCDC100
<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 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000168944.15

Human Gene Nomenclature Database

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HGNCi
HGNC:26690 CEP120

Online Mendelian Inheritance in Man (OMIM)

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MIMi
613446 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N960

<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; Source: COMPARTMENTS

<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>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

Short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
See also OMIM:616300
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_073672199A → P in SRTD13; also found in a patient with more complex ciliopathy. 2 PublicationsCorresponds to variant dbSNP:rs367600930EnsemblClinVar.1
Joubert syndrome 31 (JBTS31)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS31 inheritance is autosomal recessive.
See also OMIM:617761
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077553194V → A in JBTS31; unknown pathological significance. 1 Publication1
Natural variantiVAR_077554549A → V in JBTS31; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs775080726EnsemblClinVar.1
Natural variantiVAR_077555712L → F in JBTS31; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs114280473EnsemblClinVar.1
Natural variantiVAR_077556726L → P in JBTS31; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome

Organism-specific databases

DisGeNET

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DisGeNETi
153241

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

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GeneReviewsi
CEP120

MalaCards human disease database

More...
MalaCardsi
CEP120
MIMi616300 phenotype
617761 phenotype

Open Targets

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OpenTargetsi
ENSG00000168944

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

More...
Orphaneti
474 Jeune syndrome
475 Joubert syndrome
220493 Joubert syndrome with ocular defect

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164717857

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CEP120

Domain mapping of disease mutations (DMDM)

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DMDMi
205696377

<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_00003482621 – 986Centrosomal protein of 120 kDaAdd BLAST986

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 residuei935PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8N960

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8N960

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8N960

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

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PaxDbi
Q8N960

PeptideAtlas

More...
PeptideAtlasi
Q8N960

PRoteomics IDEntifications database

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PRIDEi
Q8N960

ProteomicsDB human proteome resource

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ProteomicsDBi
72491
72492 [Q8N960-2]
72493 [Q8N960-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N960

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

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PhosphoSitePlusi
Q8N960

<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

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Bgeei
ENSG00000168944 Expressed in 201 organ(s), highest expression level in epithelial cell of pancreas

CleanEx database of gene expression profiles

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CleanExi
HS_CEP120

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8N960 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8N960 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA028823
HPA051556

<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 TACC2, TACC3, CCDC52, TALPID3.By similarity

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
127486, 99 interactors

Protein interaction database and analysis system

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IntActi
Q8N960, 93 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000303058

<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

Secondary structure

1986
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4ICWX-ray2.20A1-151[»]
4ICXX-ray2.70A/B/C1-151[»]
6FLJX-ray1.75A1-151[»]
6FLKX-ray1.60A/B450-610[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q8N960

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8N960

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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 coili669 – 925Sequence analysisAdd BLAST257

<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 CEP120 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IDYJ Eukaryota
ENOG410XNN2 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000009378

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007674

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG107643

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8N960

KEGG Orthology (KO)

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KOi
K16459

Identification of Orthologs from Complete Genome Data

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OMAi
LKTQNEH

Database of Orthologous Groups

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OrthoDBi
277001at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8N960

TreeFam database of animal gene trees

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TreeFami
TF329430

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.150, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR039893 CEP120-like
IPR022136 DUF3668

The PANTHER Classification System

More...
PANTHERi
PTHR21574:SF0 PTHR21574:SF0, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00168 C2, 2 hits
PF12416 DUF3668, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)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 3 <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 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8N960-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MVSKSDQLLI VVSILEGRHF PKRPKHMLVV EAKFDGEQLA TDPVDHTDQP
60 70 80 90 100
EFATELAWEI DRKALHQHRL QRTPIKLQCF ALDPVTSAKE TIGYIVLDLR
110 120 130 140 150
TAQETKQAPK WYQLLSNKYT KFKSEIQISI ALETDTKPPV DSFKAKGAPP
160 170 180 190 200
RDGKVPAILA GLDPRDIVAV LNEEGGYHQI GPAEYCTDSF IMSVTIAFAT
210 220 230 240 250
QLEQLIPCTM KLPERQPEFF FYYSLLGNDV TNEPFNDLIN PNFEPERASV
260 270 280 290 300
RIRSSVEILR VYLALQSKLQ IHLCCGDQSL GSTEIPLTGL LKKGSTEINQ
310 320 330 340 350
HPVTVEGAFT LDPPNRAKQK LAPIPVELAP TVGVSVALQR EGIDSQSLIE
360 370 380 390 400
LKTQNEHEPE HSKKKVLTPI KEKTLTGPKS PTVSPVPSHN QSPPTKDDAT
410 420 430 440 450
ESEVESLQYD KDTKPNPKAS SSVPASLAQL VTTSNASEVA SGQKIAVPAT
460 470 480 490 500
SHHFCFSIDL RSIHALEIGF PINCILRYSY PFFGSAAPIM TNPPVEVRKN
510 520 530 540 550
MEVFLPQSYC AFDFATMPHQ LQDTFLRIPL LVELWHKDKM SKDLLLGIAR
560 570 580 590 600
IQLSNILSSE KTRFLGSNGE QCWRQTYSES VPVIAAQGSN NRIADLSYTV
610 620 630 640 650
TLEDYGLVKM REIFISDSSQ GVSAVQQKPS SLPPAPCPSE IQTEPRETLE
660 670 680 690 700
YKAALELEMW KEMQEDIFEN QLKQKELAHM QALAEEWKKR DRERESLVKK
710 720 730 740 750
KVAEYTILEG KLQKTLIDLE KREQQLASVE SELQREKKEL QSERQRNLQE
760 770 780 790 800
LQDSIRRAKE DCIHQVELER LKIKQLEEDK HRLQQQLNDA ENKYKILEKE
810 820 830 840 850
FQQFKDQQNN KPEIRLQSEI NLLTLEKVEL ERKLESATKS KLHYKQQWGR
860 870 880 890 900
ALKELARLKQ REQESQMARL KKQQEELEQM RLRYLAAEEK DTVKTERQEL
910 920 930 940 950
LDIRNELNRL RQQEQKQYQD STEIASGKKD GPHGSVLEEG LDDYLTRLIE
960 970 980
ERDTLMRTGV YNHEDRIISE LDRQIREILA KSNASN
Length:986
Mass (Da):112,640
Last modified:September 2, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i97B96A09962B0862
GO
Isoform 2 (identifier: Q8N960-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: Missing.

Show »
Length:960
Mass (Da):109,643
Checksum:i9958C5E336DE9906
GO
Isoform 3 (identifier: Q8N960-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     347-380: SLIELKTQNEHEPEHSKKKVLTPIKEKTLTGPKS → DAFWYSALDIIFPLFIFLFLVLDAIRKFANYEEK
     381-986: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.
Show »
Length:380
Mass (Da):42,705
Checksum:i02729EE7F437B46D
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
D6REX9D6REX9_HUMAN
Centrosomal protein of 120 kDa
CEP120
844Annotation 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>
D6R8Z4D6R8Z4_HUMAN
Centrosomal protein of 120 kDa
CEP120
200Annotation 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>
F8VRV0F8VRV0_HUMAN
Centrosomal protein of 120 kDa
CEP120
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>
E5RJ50E5RJ50_HUMAN
Centrosomal protein of 120 kDa
CEP120
70Annotation 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 BAC04155 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAH10561 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 conflicti212L → F in BAC04596 (PubMed:14702039).Curated1
Sequence conflicti246E → G in BAC04596 (PubMed:14702039).Curated1
Sequence conflicti301H → R in CAH10371 (PubMed:17974005).Curated1
Sequence conflicti785Q → L in BAC04596 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077553194V → A in JBTS31; unknown pathological significance. 1 Publication1
Natural variantiVAR_073672199A → P in SRTD13; also found in a patient with more complex ciliopathy. 2 PublicationsCorresponds to variant dbSNP:rs367600930EnsemblClinVar.1
Natural variantiVAR_077554549A → V in JBTS31; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs775080726EnsemblClinVar.1
Natural variantiVAR_046126602L → V1 PublicationCorresponds to variant dbSNP:rs6595440Ensembl.1
Natural variantiVAR_077555712L → F in JBTS31; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs114280473EnsemblClinVar.1
Natural variantiVAR_077556726L → P in JBTS31; unknown pathological significance. 1 Publication1
Natural variantiVAR_046127879Q → H. Corresponds to variant dbSNP:rs1047437Ensembl.1
Natural variantiVAR_046128936V → I. Corresponds to variant dbSNP:rs2303721Ensembl.1
Natural variantiVAR_046129947R → H. Corresponds to variant dbSNP:rs2303720Ensembl.1
Natural variantiVAR_077557975I → S Found in a patient with Meckel syndrome; unknown pathological significance. 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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0351231 – 26Missing in isoform 2. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_035124347 – 380SLIEL…TGPKS → DAFWYSALDIIFPLFIFLFL VLDAIRKFANYEEK in isoform 3. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_035125381 – 986Missing in isoform 3. 1 PublicationAdd BLAST606

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AC010369 Genomic DNA No translation available.
AC106792 Genomic DNA No translation available.
BC040527 mRNA No translation available.
AK093409 mRNA Translation: BAC04155.1 Different initiation.
AK095646 mRNA Translation: BAC04596.1
AL833929 mRNA Translation: CAD38785.2
BX648687 mRNA Translation: CAH10561.1 Different initiation.
CR627324 mRNA Translation: CAH10371.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4134.2 [Q8N960-1]
CCDS54890.1 [Q8N960-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001159698.1, NM_001166226.1 [Q8N960-2]
NP_694955.2, NM_153223.3 [Q8N960-1]
XP_011541487.1, XM_011543185.2 [Q8N960-2]
XP_011541488.1, XM_011543186.2
XP_016864574.1, XM_017009085.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.483209

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000306467; ENSP00000303058; ENSG00000168944 [Q8N960-1]
ENST00000306481; ENSP00000307419; ENSG00000168944 [Q8N960-2]
ENST00000328236; ENSP00000327504; ENSG00000168944 [Q8N960-1]
ENST00000513565; ENSP00000422089; ENSG00000168944 [Q8N960-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
153241

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:153241

UCSC genome browser

More...
UCSCi
uc003ktk.4 human [Q8N960-1]

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
AC010369 Genomic DNA No translation available.
AC106792 Genomic DNA No translation available.
BC040527 mRNA No translation available.
AK093409 mRNA Translation: BAC04155.1 Different initiation.
AK095646 mRNA Translation: BAC04596.1
AL833929 mRNA Translation: CAD38785.2
BX648687 mRNA Translation: CAH10561.1 Different initiation.
CR627324 mRNA Translation: CAH10371.1
CCDSiCCDS4134.2 [Q8N960-1]
CCDS54890.1 [Q8N960-2]
RefSeqiNP_001159698.1, NM_001166226.1 [Q8N960-2]
NP_694955.2, NM_153223.3 [Q8N960-1]
XP_011541487.1, XM_011543185.2 [Q8N960-2]
XP_011541488.1, XM_011543186.2
XP_016864574.1, XM_017009085.1
UniGeneiHs.483209

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4ICWX-ray2.20A1-151[»]
4ICXX-ray2.70A/B/C1-151[»]
6FLJX-ray1.75A1-151[»]
6FLKX-ray1.60A/B450-610[»]
ProteinModelPortaliQ8N960
SMRiQ8N960
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127486, 99 interactors
IntActiQ8N960, 93 interactors
STRINGi9606.ENSP00000303058

Protein family/group databases

MoonDBiQ8N960 Predicted

PTM databases

iPTMnetiQ8N960
PhosphoSitePlusiQ8N960

Polymorphism and mutation databases

BioMutaiCEP120
DMDMi205696377

Proteomic databases

EPDiQ8N960
jPOSTiQ8N960
MaxQBiQ8N960
PaxDbiQ8N960
PeptideAtlasiQ8N960
PRIDEiQ8N960
ProteomicsDBi72491
72492 [Q8N960-2]
72493 [Q8N960-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
153241
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000306467; ENSP00000303058; ENSG00000168944 [Q8N960-1]
ENST00000306481; ENSP00000307419; ENSG00000168944 [Q8N960-2]
ENST00000328236; ENSP00000327504; ENSG00000168944 [Q8N960-1]
ENST00000513565; ENSP00000422089; ENSG00000168944 [Q8N960-3]
GeneIDi153241
KEGGihsa:153241
UCSCiuc003ktk.4 human [Q8N960-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
153241
DisGeNETi153241
EuPathDBiHostDB:ENSG00000168944.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CEP120
GeneReviewsiCEP120
HGNCiHGNC:26690 CEP120
HPAiHPA028823
HPA051556
MalaCardsiCEP120
MIMi613446 gene
616300 phenotype
617761 phenotype
neXtProtiNX_Q8N960
OpenTargetsiENSG00000168944
Orphaneti474 Jeune syndrome
475 Joubert syndrome
220493 Joubert syndrome with ocular defect
PharmGKBiPA164717857

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IDYJ Eukaryota
ENOG410XNN2 LUCA
GeneTreeiENSGT00390000009378
HOGENOMiHOG000007674
HOVERGENiHBG107643
InParanoidiQ8N960
KOiK16459
OMAiLKTQNEH
OrthoDBi277001at2759
PhylomeDBiQ8N960
TreeFamiTF329430

Miscellaneous databases

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

More...
ChiTaRSi
CEP120 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CEP120

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

More...
GenomeRNAii
153241

Protein Ontology

More...
PROi
PR:Q8N960

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000168944 Expressed in 201 organ(s), highest expression level in epithelial cell of pancreas
CleanExiHS_CEP120
ExpressionAtlasiQ8N960 baseline and differential
GenevisibleiQ8N960 HS

Family and domain databases

Gene3Di2.60.40.150, 1 hit
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR039893 CEP120-like
IPR022136 DUF3668
PANTHERiPTHR21574:SF0 PTHR21574:SF0, 1 hit
PfamiView protein in Pfam
PF00168 C2, 2 hits
PF12416 DUF3668, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiCE120_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: Q8N960
Secondary accession number(s): Q6AI52
, Q6AW89, Q8IWB5, Q8N9Y0, Q8NDE8
<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: September 2, 2008
Last sequence update: September 2, 2008
Last modified: January 16, 2019
This is version 129 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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