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UniProtKB - Q96MT8 (CEP63_HUMAN)

Protein

Centrosomal protein of 63 kDa

Gene

CEP63

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

Required for normal spindle assembly. Plays a key role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication. Reported to be required for centrosomal recruitment of CEP152; however, this function has been questioned (PubMed:21983783, PubMed:26297806). Also recruits CDK1 to centrosomes (PubMed:21406398). Plays a role in DNA damage response. Following DNA damage, such as double-strand breaks (DSBs), is removed from centrosomes; this leads to the inactivation of spindle assembly and delay in mitotic progression (PubMed:21406398).3 Publications

Miscellaneous

CEP63 and DEUP1 paralogs are both involved in centriole amplification: while CEP63 mediates mother-centriole-dependent centriole duplication, DEUP1 mediates de novo centriole amplification in multiciliated cells.

<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

View the 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 processCell cycle, Cell division, DNA damage, Mitosis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...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 63 kDa
Short name:
Cep63
<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:CEP63
<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 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_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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000182923.16

Human Gene Nomenclature Database

More...HGNCi		HGNC:25815 CEP63

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		614724 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96MT8

<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

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

Seckel syndrome 6 (SCKL6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.
See also OMIM:614728

Keywords - Diseasei

Dwarfism, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		80254

MalaCards human disease database

More...MalaCardsi		CEP63
MIMi614728 phenotype

Open Targets

More...OpenTargetsi		ENSG00000182923

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

More...Orphaneti		2512 Autosomal recessive primary microcephaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142672124

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CEP63

Domain mapping of disease mutations (DMDM)

More...DMDMi		56748851

<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_00000894931 – 703Centrosomal protein of 63 kDaAdd BLAST703

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 residuei1N-acetylmethionineCombined sources1
Modified residuei278PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96MT8

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96MT8

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

More...PaxDbi		Q96MT8

PeptideAtlas

More...PeptideAtlasi		Q96MT8

PRoteomics IDEntifications database

More...PRIDEi		Q96MT8

ProteomicsDB human proteome resource

More...ProteomicsDBi		77406
77407 [Q96MT8-2]
77408 [Q96MT8-3]
77409 [Q96MT8-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96MT8

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

More...PhosphoSitePlusi		Q96MT8

<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		ENSG00000182923 Expressed in 225 organ(s), highest expression level in testis

CleanEx database of gene expression profiles

More...CleanExi		HS_CEP63

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96MT8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96MT8 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA058154
HPA058313

<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 CEP152 and CDK1; these interactions recruit both ligands to centrosomes (PubMed:21406398). Interacts with CDK2, CDK5RAP2, WDR62, CEP90, KIAA0753/moonraker and CCDC14. CEP63, CDK5RAP2, CEP152, WDR62 are proposed to form a stepwise assembled complex at the centrosome forming a ring near parental centrioles (PubMed:21406398, PubMed:26297806).3 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)

More...BioGridi		123200, 135 interactors

Database of interacting proteins

More...DIPi		DIP-36374N

Protein interaction database and analysis system

More...IntActi		Q96MT8, 133 interactors

Molecular INTeraction database

More...MINTi		Q96MT8

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000336524

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q96MT8

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

More...SMRi		Q96MT8

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 coili22 – 199Sequence analysisAdd BLAST178
Coiled coili242 – 306Sequence analysisAdd BLAST65
Coiled coili353 – 533Sequence analysisAdd BLAST181
Coiled coili676 – 703Sequence analysisAdd BLAST28

<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 CEP63 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IFN5 Eukaryota
ENOG4111HAY LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153190

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96MT8

KEGG Orthology (KO)

More...KOi		K16763

Identification of Orthologs from Complete Genome Data

More...OMAi		DLVGTNM

Database of Orthologous Groups

More...OrthoDBi		EOG091G0LBG

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96MT8

TreeFam database of animal gene trees

More...TreeFami		TF330595

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029608 Cep63
IPR031470 Cep63/Deup1_N

The PANTHER Classification System

More...PANTHERi		PTHR18875:SF7 PTHR18875:SF7, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF17045 CEP63, 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 (4+)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 4 <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 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96MT8-1) [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
MEALLEGIQN RGHGGGFLTS CEAELQELMK QIDIMVAHKK SEWEGRTHAL 
        60         70         80         90        100
ETCLKIREQE LKSLRSQLDV THKEVGMLHQ QVEEHEKIKQ EMTMEYKQEL 
       110        120        130        140        150
KKLHEELCIL KRSYEKLQKK QMREFRGNTK NHREDRSEIE RLTAKIEEFR 
       160        170        180        190        200
QKSLDWEKQR LIYQQQVSSL EAQRKALAEQ SEIIQAQLVN RKQKLESVEL 
       210        220        230        240        250
SSQSEIQHLS SKLERANDTI CANELEIERL TMRVNDLVGT SMTVLQEQQQ 
       260        270        280        290        300
KEEKLRESEK LLEALQEEKR ELKAALQSQE NLIHEARIQK EKLQEKVKAT 
       310        320        330        340        350
NTQHAVEAIR PREESLAEKK YTSQGQGDLD SVLSQLNFTH TSEDLLQAEV 
       360        370        380        390        400
TCLEGSLESV SATCKQLSQE LMEKYEELKR MEAHNNEYKA EIKKLKEQIL 
       410        420        430        440        450
QGEQSYSSAL EGMKMEISHL TQELHQRDIT IASTKGSSSD MEKRLRAEMQ 
       460        470        480        490        500
KAEDKAVEHK EILDQLESLK LENRHLSEMV MKLELGLHEA KEISLADLQE 
       510        520        530        540        550
NYIEALNKLV SENQQLQKDL MNTKSQLEIS TQMCKKQNDR IFKPTHSRTT 
       560        570        580        590        600
EFKNTEFKPT HGQHRHDGIK TEHYKTDLHS PRGQASDSIN PMSRVLSPLS 
       610        620        630        640        650
PQISPCSSTR SLTSYSLCKT HSLPSALDTN EANFSDTMSE SMNDQEEFIS 
       660        670        680        690        700
SCSLPVSPLG SIATRFLEEE ELRSHHILER LDAHIEELKR ESEKTVRQFT 

ALK
Length:703
Mass (Da):81,344
Last modified:December 1, 2001 - v1
<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:iD5406B75BB19B5D0
GO
Isoform 2 (identifier: Q96MT8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     490-651: Missing.

Show »
Length:541
Mass (Da):63,015
Checksum:iF4D363D9A3DBCF81
GO
Isoform 3 (identifier: Q96MT8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     310-355: Missing.
     490-651: Missing.

Show »
Length:495
Mass (Da):57,908
Checksum:iB03D8ECF77C790C4
GO
Isoform 4 (identifier: Q96MT8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     310-355: Missing.
     490-521: AKEISLADLQENYIEALNKLVSENQQLQKDLM → RWGFTMLSSLVLNFGIQAIRQPQRPKVLELQV
     522-703: Missing.

Show »
Length:475
Mass (Da):55,591
Checksum:i74DF3B1F93503B2D
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
D6RAY6D6RAY6_HUMAN
Centrosomal protein of 63 kDa
CEP63
162Annotation 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>
H0YAL1H0YAL1_HUMAN
Centrosomal protein of 63 kDa
CEP63
194Annotation 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>
H0Y900H0Y900_HUMAN
Centrosomal protein of 63 kDa
CEP63
155Annotation 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>
H0YAE6H0YAE6_HUMAN
Centrosomal protein of 63 kDa
CEP63
245Annotation 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>
D6R9Q4D6R9Q4_HUMAN
Centrosomal protein of 63 kDa
CEP63
63Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti365K → R in BAB14662 (PubMed:14702039).Curated1

Natural variant

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_020604651S → L. Corresponds to variant dbSNP:rs1127826EnsemblClinVar.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. 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_012251310 – 355Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST46
Alternative sequenceiVSP_012252490 – 651Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST162
Alternative sequenceiVSP_012253490 – 521AKEIS…QKDLM → RWGFTMLSSLVLNFGIQAIR QPQRPKVLELQV in isoform 4. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_012254522 – 703Missing in isoform 4. 1 PublicationAdd BLAST182

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
AK023448 mRNA Translation: BAB14578.1
AK023738 mRNA Translation: BAB14662.1
AK056465 mRNA Translation: BAB71192.1
CH471052 Genomic DNA Translation: EAW79136.1
CH471052 Genomic DNA Translation: EAW79137.1
CH471052 Genomic DNA Translation: EAW79138.1
CH471052 Genomic DNA Translation: EAW79139.1
CH471052 Genomic DNA Translation: EAW79140.1
CH471052 Genomic DNA Translation: EAW79141.1
BC014050 mRNA Translation: AAH14050.1
BC068997 mRNA Translation: AAH68997.1
BK005503 mRNA Translation: DAA05503.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3086.1 [Q96MT8-1]
CCDS43152.1 [Q96MT8-4]
CCDS43153.1 [Q96MT8-2]
CCDS43154.1 [Q96MT8-3]

NCBI Reference Sequences

More...RefSeqi		NP_001035842.1, NM_001042383.1 [Q96MT8-3]
NP_001035843.1, NM_001042384.1 [Q96MT8-4]
NP_001035859.1, NM_001042400.1 [Q96MT8-2]
NP_079456.2, NM_025180.3 [Q96MT8-1]
XP_005247854.1, XM_005247797.3 [Q96MT8-1]
XP_006713823.1, XM_006713760.3 [Q96MT8-1]
XP_011511496.1, XM_011513194.2
XP_016862743.1, XM_017007254.1
XP_016862744.1, XM_017007255.1
XP_016862745.1, XM_017007256.1
XP_016862751.1, XM_017007262.1
XP_016862752.1, XM_017007263.1
XP_016862753.1, XM_017007264.1
XP_016862755.1, XM_017007266.1
XP_016862756.1, XM_017007267.1

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.443301

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000332047; ENSP00000328382; ENSG00000182923 [Q96MT8-3]
ENST00000337090; ENSP00000336524; ENSG00000182923 [Q96MT8-1]
ENST00000354446; ENSP00000346432; ENSG00000182923 [Q96MT8-4]
ENST00000383229; ENSP00000372716; ENSG00000182923 [Q96MT8-2]
ENST00000513612; ENSP00000426129; ENSG00000182923 [Q96MT8-1]
ENST00000606977; ENSP00000475903; ENSG00000182923 [Q96MT8-1]
ENST00000620544; ENSP00000482219; ENSG00000182923 [Q96MT8-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		80254

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:80254

UCSC genome browser

More...UCSCi		uc003eql.2 human [Q96MT8-1]

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
AK023448 mRNA Translation: BAB14578.1
AK023738 mRNA Translation: BAB14662.1
AK056465 mRNA Translation: BAB71192.1
CH471052 Genomic DNA Translation: EAW79136.1
CH471052 Genomic DNA Translation: EAW79137.1
CH471052 Genomic DNA Translation: EAW79138.1
CH471052 Genomic DNA Translation: EAW79139.1
CH471052 Genomic DNA Translation: EAW79140.1
CH471052 Genomic DNA Translation: EAW79141.1
BC014050 mRNA Translation: AAH14050.1
BC068997 mRNA Translation: AAH68997.1
BK005503 mRNA Translation: DAA05503.1
CCDSiCCDS3086.1 [Q96MT8-1]
CCDS43152.1 [Q96MT8-4]
CCDS43153.1 [Q96MT8-2]
CCDS43154.1 [Q96MT8-3]
RefSeqiNP_001035842.1, NM_001042383.1 [Q96MT8-3]
NP_001035843.1, NM_001042384.1 [Q96MT8-4]
NP_001035859.1, NM_001042400.1 [Q96MT8-2]
NP_079456.2, NM_025180.3 [Q96MT8-1]
XP_005247854.1, XM_005247797.3 [Q96MT8-1]
XP_006713823.1, XM_006713760.3 [Q96MT8-1]
XP_011511496.1, XM_011513194.2
XP_016862743.1, XM_017007254.1
XP_016862744.1, XM_017007255.1
XP_016862745.1, XM_017007256.1
XP_016862751.1, XM_017007262.1
XP_016862752.1, XM_017007263.1
XP_016862753.1, XM_017007264.1
XP_016862755.1, XM_017007266.1
XP_016862756.1, XM_017007267.1
UniGeneiHs.443301

3D structure databases

ProteinModelPortaliQ96MT8
SMRiQ96MT8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123200, 135 interactors
DIPiDIP-36374N
IntActiQ96MT8, 133 interactors
MINTiQ96MT8
STRINGi9606.ENSP00000336524

PTM databases

iPTMnetiQ96MT8
PhosphoSitePlusiQ96MT8

Polymorphism and mutation databases

BioMutaiCEP63
DMDMi56748851

Proteomic databases

EPDiQ96MT8
MaxQBiQ96MT8
PaxDbiQ96MT8
PeptideAtlasiQ96MT8
PRIDEiQ96MT8
ProteomicsDBi77406
77407 [Q96MT8-2]
77408 [Q96MT8-3]
77409 [Q96MT8-4]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		80254
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000332047; ENSP00000328382; ENSG00000182923 [Q96MT8-3]
ENST00000337090; ENSP00000336524; ENSG00000182923 [Q96MT8-1]
ENST00000354446; ENSP00000346432; ENSG00000182923 [Q96MT8-4]
ENST00000383229; ENSP00000372716; ENSG00000182923 [Q96MT8-2]
ENST00000513612; ENSP00000426129; ENSG00000182923 [Q96MT8-1]
ENST00000606977; ENSP00000475903; ENSG00000182923 [Q96MT8-1]
ENST00000620544; ENSP00000482219; ENSG00000182923 [Q96MT8-4]
GeneIDi80254
KEGGihsa:80254
UCSCiuc003eql.2 human [Q96MT8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		80254
DisGeNETi80254
EuPathDBiHostDB:ENSG00000182923.16

GeneCards: human genes, protein and diseases

More...GeneCardsi		CEP63
HGNCiHGNC:25815 CEP63
HPAiHPA058154
HPA058313
MalaCardsiCEP63
MIMi614724 gene
614728 phenotype
neXtProtiNX_Q96MT8
OpenTargetsiENSG00000182923
Orphaneti2512 Autosomal recessive primary microcephaly
PharmGKBiPA142672124

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IFN5 Eukaryota
ENOG4111HAY LUCA
GeneTreeiENSGT00940000153190
InParanoidiQ96MT8
KOiK16763
OMAiDLVGTNM
OrthoDBiEOG091G0LBG
PhylomeDBiQ96MT8
TreeFamiTF330595

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		CEP63 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CEP63

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

More...GenomeRNAii		80254

Protein Ontology

More...PROi		PR:Q96MT8

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000182923 Expressed in 225 organ(s), highest expression level in testis
CleanExiHS_CEP63
ExpressionAtlasiQ96MT8 baseline and differential
GenevisibleiQ96MT8 HS

Family and domain databases

InterProiView protein in InterPro
IPR029608 Cep63
IPR031470 Cep63/Deup1_N
PANTHERiPTHR18875:SF7 PTHR18875:SF7, 1 hit
PfamiView protein in Pfam
PF17045 CEP63, 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 nameiCEP63_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: Q96MT8
Secondary accession number(s): D3DND8
, D3DND9, D3DNE0, Q96CR0, Q9H8F5, Q9H8N0
<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 21, 2004
Last sequence update: December 1, 2001
Last modified: December 5, 2018
This is version 135 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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