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Aliases for CENPE Gene

Aliases for CENPE Gene

  • Centromere Protein E 2 3 4 5
  • Kinesin-Related Protein CENPE 3 4
  • Centromere Protein E, 312kDa 2 3
  • CENP-E 3 4
  • Protein Phosphatase 1, Regulatory Subunit 61 3
  • Centromere Autoantigen E (312kD) 3
  • Centromere Protein E (312kD) 2
  • Kinesin Family Member 10 3
  • Protein Phosphatase 1 2
  • Regulatory Subunit 61 2
  • PPP1R61 3
  • MCPH13 3
  • KIF10 3

External Ids for CENPE Gene

Previous GeneCards Identifiers for CENPE Gene

  • GC04M104426
  • GC04M104486
  • GC04M104384
  • GC04M104246
  • GC04M104027
  • GC04M099760

Summaries for CENPE Gene

Entrez Gene Summary for CENPE Gene

  • Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014]

GeneCards Summary for CENPE Gene

CENPE (Centromere Protein E) is a Protein Coding gene. Diseases associated with CENPE include Microcephaly 13, Primary, Autosomal Recessive and Seckel Syndrome. Among its related pathways are Golgi-to-ER retrograde transport and Mitotic Metaphase and Anaphase. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and signal transducer activity. An important paralog of this gene is KIF5C.

UniProtKB/Swiss-Prot for CENPE Gene

  • Essential for the maintenance of chromosomal stability through efficient stabilization of microtubule capture at kinetochores. Plays a key role in the movement of chromosomes toward the metaphase plate during mitosis. Is a slow plus end-directed motor whose activity is essential for metaphase chromosome alignment. Couples chromosome position to microtubule depolymerizing activity. The highly processive microtubule-dependent motor activity of CENPE serves to power chromosome congression and provides a flexible, motile tether linking kinetochores to dynamic spindle microtubules. Necessary for the mitotic checkpoint signal at individual kinetochores to prevent aneuploidy due to single chromosome loss. Required for the efficient recruitment of BUBR1, MAD1 and MAD2 to attached and newly unattached kinetochores. Stimulates mammalian BUBR1 kinase activity. Accumulates just before mitosis at the G2 phase of the cell cycle.

Gene Wiki entry for CENPE Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CENPE Gene

Genomics for CENPE Gene

Regulatory Elements for CENPE Gene

Enhancers for CENPE Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CENPE on UCSC Golden Path with GeneCards custom track

Promoters for CENPE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CENPE on UCSC Golden Path with GeneCards custom track

Genomic Location for CENPE Gene

Chromosome:
4
Start:
103,105,806 bp from pter
End:
103,198,409 bp from pter
Size:
92,604 bases
Orientation:
Minus strand

Genomic View for CENPE Gene

Genes around CENPE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CENPE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CENPE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CENPE Gene

Proteins for CENPE Gene

  • Protein details for CENPE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02224-CENPE_HUMAN
    Recommended name:
    Centromere-associated protein E
    Protein Accession:
    Q02224
    Secondary Accessions:
    • A6NKY9
    • A8K2U7
    • Q4LE75

    Protein attributes for CENPE Gene

    Size:
    2701 amino acids
    Molecular mass:
    316415 Da
    Quaternary structure:
    • Monomer. Interacts with CENPF, SEPT7, KIF18A, BUB1B kinase and PRC1. Interacts with NUF2; this interaction determines kinetochore localization. Interacts with SKAP; this interaction greatly favors SKAP binding to microtubules.
    SequenceCaution:
    • Sequence=BAE06078.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CENPE Gene

    Alternative splice isoforms for CENPE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CENPE Gene

Proteomics data for CENPE Gene at MOPED

Post-translational modifications for CENPE Gene

  • Sumoylated with SUMO2 and SUMO3. The sumoylation mediates the association to the kinetochore.
  • The C-terminal inhibitory domain is phosphorylated. Phosphorylation relieves autoinhibition of the kinetochore motor (By similarity).
  • Ubiquitination at Lys 1937
  • Modification sites at PhosphoSitePlus

Other Protein References for CENPE Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CENPE (CENPE)

No data available for DME Specific Peptides for CENPE Gene

Domains & Families for CENPE Gene

Protein Domains for CENPE Gene

Suggested Antigen Peptide Sequences for CENPE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q02224

UniProtKB/Swiss-Prot:

CENPE_HUMAN :
  • The protein is composed of a N-terminal kinesin-motor domain involved in the chromosome movements, a long coil-coiled region involved in the homodimerization and an inhibitory C-tail involved in autoinhibition of the N-terminal catalytic part.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
Domain:
  • The protein is composed of a N-terminal kinesin-motor domain involved in the chromosome movements, a long coil-coiled region involved in the homodimerization and an inhibitory C-tail involved in autoinhibition of the N-terminal catalytic part.
  • Contains 1 kinesin motor domain.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
genes like me logo Genes that share domains with CENPE: view

Function for CENPE Gene

Molecular function for CENPE Gene

GENATLAS Biochemistry:
centromere protein E (312kDa),component of the outer kinetochore,microtubule associated kinesin motor protein,ATP dependent superfamily,required for the metaphase-anaphase transition in mitosis and meiosis II
UniProtKB/Swiss-Prot Function:
Essential for the maintenance of chromosomal stability through efficient stabilization of microtubule capture at kinetochores. Plays a key role in the movement of chromosomes toward the metaphase plate during mitosis. Is a slow plus end-directed motor whose activity is essential for metaphase chromosome alignment. Couples chromosome position to microtubule depolymerizing activity. The highly processive microtubule-dependent motor activity of CENPE serves to power chromosome congression and provides a flexible, motile tether linking kinetochores to dynamic spindle microtubules. Necessary for the mitotic checkpoint signal at individual kinetochores to prevent aneuploidy due to single chromosome loss. Required for the efficient recruitment of BUBR1, MAD1 and MAD2 to attached and newly unattached kinetochores. Stimulates mammalian BUBR1 kinase activity. Accumulates just before mitosis at the G2 phase of the cell cycle.

Gene Ontology (GO) - Molecular Function for CENPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9763420
GO:0043515 kinetochore binding IDA 9763420
genes like me logo Genes that share ontologies with CENPE: view
genes like me logo Genes that share phenotypes with CENPE: view

Human Phenotype Ontology for CENPE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CENPE Gene

MGI Knock Outs for CENPE:

Animal Model Products

miRNA for CENPE Gene

miRTarBase miRNAs that target CENPE

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CENPE Gene

Localization for CENPE Gene

Subcellular locations from UniProtKB/Swiss-Prot for CENPE Gene

Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Note=Associates with kinetochores during congression (as early as prometaphase), relocates to the spindle midzone at anaphase, and is quantitatively discarded at the end of the cell division.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CENPE Gene COMPARTMENTS Subcellular localization image for CENPE gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 5

Gene Ontology (GO) - Cellular Components for CENPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000779 condensed chromosome, centromeric region IDA 19465021
GO:0005829 cytosol TAS --
GO:0015630 microtubule cytoskeleton IDA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with CENPE: view

Pathways & Interactions for CENPE Gene

genes like me logo Genes that share pathways with CENPE: view

Pathways by source for CENPE Gene

1 Cell Signaling Technology pathway for CENPE Gene
1 BioSystems pathway for CENPE Gene

Gene Ontology (GO) - Biological Process for CENPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle IMP 24748105
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0008152 metabolic process IEA --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
GO:0045860 positive regulation of protein kinase activity IMP 12925705
genes like me logo Genes that share ontologies with CENPE: view

No data available for SIGNOR curated interactions for CENPE Gene

Drugs & Compounds for CENPE Gene

(7) Drugs for CENPE Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
GSK-923295 Investigational Pharma inhibitor, Target CENP-E inhibitor,small-molecule, Kinesin protein inhibitors 0

(1) Additional Compounds for CENPE Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CENPE: view

Transcripts for CENPE Gene

Unigene Clusters for CENPE Gene

Centromere protein E, 312kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CENPE Gene

No ASD Table

Relevant External Links for CENPE Gene

GeneLoc Exon Structure for
CENPE
ECgene alternative splicing isoforms for
CENPE

Expression for CENPE Gene

mRNA expression in normal human tissues for CENPE Gene

mRNA differential expression in normal tissues according to GTEx for CENPE Gene

This gene is overexpressed in Testis (x4.1).

Protein differential expression in normal tissues from HIPED for CENPE Gene

This gene is overexpressed in Monocytes (28.6), Spleen (9.5), Lung (8.5), and NK cells (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CENPE Gene



SOURCE GeneReport for Unigene cluster for CENPE Gene Hs.75573

genes like me logo Genes that share expression patterns with CENPE: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for CENPE Gene

Orthologs for CENPE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CENPE Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CENPE 35
  • 86.28 (n)
  • 79.13 (a)
CENPE 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CENPE 35
  • 86.96 (n)
  • 80.38 (a)
CENPE 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cenpe 35
  • 73.88 (n)
  • 63.98 (a)
Cenpe 16
Cenpe 36
  • 65 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CENPE 35
  • 99.17 (n)
  • 98.78 (a)
CENPE 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cenpe 35
  • 74.9 (n)
  • 65.82 (a)
oppossum
(Monodelphis domestica)
Mammalia CENPE 36
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves CENPE 36
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17159 35
African clawed frog
(Xenopus laevis)
Amphibia cenpe-A 35
zebrafish
(Danio rerio)
Actinopterygii cenpe 36
  • 28 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta cana 37
  • 23 (a)
cmet 37
  • 24 (a)
cana 36
  • 23 (a)
OneToMany
cmet 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hcp-2 37
  • 19 (a)
corn
(Zea mays)
Liliopsida Zm.7330 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToOne
Species with no ortholog for CENPE:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CENPE Gene

ENSEMBL:
Gene Tree for CENPE (if available)
TreeFam:
Gene Tree for CENPE (if available)

Paralogs for CENPE Gene

(15) SIMAP similar genes for CENPE Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for CENPE Gene

genes like me logo Genes that share paralogs with CENPE: view

Variants for CENPE Gene

Sequence variations from dbSNP and Humsavar for CENPE Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs2615542 - 103,145,304(+) ATTAA(A/G)TTGTT intron-variant, reference, missense
rs35100664 - 103,145,166(+) TTGAC(G/T)TTCTT intron-variant, reference, missense
rs2306106 - 103,140,394(+) TTTAG(C/G/T)TCCTG reference, missense
rs2243682 - 103,138,385(+) TTTCC(A/G)TAAGG reference, missense
rs1381657 - 103,140,836(+) GCAGG(C/G)TTTCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CENPE Gene

Variant ID Type Subtype PubMed ID
dgv1656e1 CNV Complex 17122850
nsv830021 CNV Loss 17160897
esv2554056 CNV Loss 19546169
esv1606562 CNV Deletion 17803354
esv2728082 CNV Deletion 23290073
esv2675893 CNV Deletion 23128226
nsv830022 CNV Loss 17160897

Variation tolerance for CENPE Gene

Residual Variation Intolerance Score: 29.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.38; 77.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CENPE Gene

Human Gene Mutation Database (HGMD)
CENPE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CENPE Gene

Disorders for CENPE Gene

MalaCards: The human disease database

(2) MalaCards diseases for CENPE Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly 13, primary, autosomal recessive
  • mcph13
seckel syndrome
  • bird-headed dwarfism
- elite association - COSMIC cancer census association via MalaCards
Search CENPE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CENPE_HUMAN
  • Microcephaly 13, primary, autosomal recessive (MCPH13) [MIM:616051]: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. {ECO:0000269 PubMed:24748105}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CENPE

Genetic Association Database (GAD)
CENPE
Human Genome Epidemiology (HuGE) Navigator
CENPE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CENPE
genes like me logo Genes that share disorders with CENPE: view

No data available for Genatlas for CENPE Gene

Publications for CENPE Gene

  1. Defects in chromosome congression and mitotic progression in KIF18A- deficient cells are partly mediated through impaired functions of CENP-E. (PMID: 19625775) Huang Y. … Dai W. (Cell Cycle 2009) 3 4 23 67
  2. Chromosome congression in the absence of kinetochore fibres. (PMID: 19525938) Cai S. … Walczak C.E. (Nat. Cell Biol. 2009) 3 23
  3. PinX1 is a novel microtubule-binding protein essential for accurate chromosome segregation. (PMID: 19553660) Yuan K. … Yao X. (J. Biol. Chem. 2009) 3 23
  4. Motor-independent targeting of CLASPs to kinetochores by CENP-E promotes microtubule turnover and poleward flux. (PMID: 19733075) Maffini S. … Maiato H. (Curr. Biol. 2009) 3 23
  5. Identification of FANCA as a protein interacting with centromere-associated protein E. (PMID: 19779646) Du J. … Shen J. (Acta Biochim. Biophys. Sin. (Shanghai) 2009) 3 23

Products for CENPE Gene

Sources for CENPE Gene

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