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    CENPE centromere protein E [ Homo sapiens (human) ]

    Gene ID: 1062, updated on 23-May-2018
    Official Symbol
    CENPEprovided by HGNC
    Official Full Name
    centromere protein Eprovided by HGNC
    Primary source
    HGNC:HGNC:1856
    See related
    Ensembl:ENSG00000138778 MIM:117143; Vega:OTTHUMG00000160980
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KIF10; CENP-E; MCPH13; PPP1R61
    Summary
    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]
    Expression
    Broad expression in bone marrow (RPKM 3.4), lymph node (RPKM 3.3) and 18 other tissues See more
    Orthologs
    See CENPE in Genome Data Viewer
    Location:
    4q24
    Exon count:
    49
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (103105806..103198409, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (104026963..104119566, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 9 member B1 Neighboring gene solute carrier family 9 member B2 Neighboring gene 3-hydroxybutyrate dehydrogenase 2 Neighboring gene long intergenic non-protein coding RNA 2428 Neighboring gene DEAD-box helicase 3 pseudogene 3

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Primary autosomal recessive microcephaly 13
    MedGen: C4015080 OMIM: 616051 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
    NHGRI GWA Catalog
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      Cell Cycle, organism-specific biosystem
      Cell Cycle
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    • Hemostasis, organism-specific biosystem (from REACTOME)
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    • Kinesins, organism-specific biosystem (from REACTOME)
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    • M Phase, organism-specific biosystem (from REACTOME)
      M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
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      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
      Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
    • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
      Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
    • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
      Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
    • PLK1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      PLK1 signaling events, organism-specific biosystem
      PLK1 signaling events
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      Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
    • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
      Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
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    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    kinetochore binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    microtubule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    microtubule motor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule motor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
    Traceable Author Statement
    more info
     
    attachment of mitotic spindle microtubules to kinetochore IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    kinetochore assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    lateral attachment of mitotic spindle microtubules to kinetochore IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    metaphase plate congression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    microtubule plus-end directed mitotic chromosome migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    microtubule-based movement TAS
    Traceable Author Statement
    more info
     
    mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic chromosome movement towards spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitotic metaphase plate congression IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitotic metaphase plate congression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic spindle organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of mitotic metaphase/anaphase transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    retrograde vesicle-mediated transport, Golgi to ER TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromosome, centromeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with condensed chromosome outer kinetochore TAS
    Traceable Author Statement
    more info
    PubMed 
    condensed chromosome, centromeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    kinesin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    kinetochore microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane HDA PubMed 
    microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitotic spindle midzone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Preferred Names
    centromere-associated protein E
    Names
    Centromere autoantigen E (312kD)
    centromere protein E, 312kDa
    kinesin family member 10
    kinesin-7
    kinesin-related protein CENPE
    protein phosphatase 1, regulatory subunit 61

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_041798.1 RefSeqGene

      Range
      5001..97604
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001286734.1NP_001273663.1  centromere-associated protein E isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate exons and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. It is unknown whether this isoform (2) is proteolytically processed in the same manner as isoform 1.
      Source sequence(s)
      AB209996, AC079919, BQ447425, Z15005
      Consensus CDS
      CCDS68768.1
      UniProtKB/Swiss-Prot
      Q02224
      Related
      ENSP00000369365.3, OTTHUMP00000219480, ENST00000380026.7, OTTHUMT00000363246
      Conserved Domains (6) summary
      smart00129
      Location:6336
      KISc; Kinesin motor, catalytic domain. ATPase
      COG0419
      Location:345890
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      COG1196
      Location:16512453
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR04523
      Location:6351341
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      cd01374
      Location:6329
      KISc_CENP_E; Kinesin motor domain, CENP-E/KIP2-like subgroup
      pfam04880
      Location:803886
      NUDE_C; NUDE protein, C-terminal conserved region
    2. NM_001813.2NP_001804.2  centromere-associated protein E isoform 1 precursor

      See identical proteins and their annotated locations for NP_001804.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA210728, AA210858, AC079919, AL596934, AU100312, AW499901, BQ231878, BQ434767, BQ447425, CD644410, CN418651, Z15005
      Consensus CDS
      CCDS34042.1
      UniProtKB/Swiss-Prot
      Q02224
      Related
      ENSP00000265148.3, ENST00000265148.7
      Conserved Domains (6) summary
      smart00129
      Location:6336
      KISc; Kinesin motor, catalytic domain. ATPase
      COG0419
      Location:345915
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      COG1196
      Location:16762482
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR04523
      Location:6601366
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      cd01374
      Location:6329
      KISc_CENP_E; Kinesin motor domain, CENP-E/KIP2-like subgroup
      pfam04880
      Location:828911
      NUDE_C; NUDE protein, C-terminal conserved region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

      Range
      103105806..103198409 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531549.2XP_011529851.1  centromere-associated protein E isoform X6

      Conserved Domains (7) summary
      smart00129
      Location:6336
      KISc; Kinesin motor, catalytic domain. ATPase
      COG0419
      Location:345915
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      COG1196
      Location:16602357
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:11631981
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR04523
      Location:6601366
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      cd01374
      Location:6329
      KISc_CENP_E; Kinesin motor domain, CENP-E/KIP2-like subgroup
      pfam04880
      Location:828911
      NUDE_C; NUDE protein, C-terminal conserved region
    2. XM_017007659.1XP_016863148.1  centromere-associated protein E isoform X7

    3. XM_011531545.2XP_011529847.1  centromere-associated protein E isoform X2

      Conserved Domains (6) summary
      smart00129
      Location:6336
      KISc; Kinesin motor, catalytic domain. ATPase
      COG0419
      Location:345915
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      COG1196
      Location:16372429
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR04523
      Location:6601366
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      cd01374
      Location:6329
      KISc_CENP_E; Kinesin motor domain, CENP-E/KIP2-like subgroup
      pfam04880
      Location:828911
      NUDE_C; NUDE protein, C-terminal conserved region
    4. XM_011531548.2XP_011529850.1  centromere-associated protein E isoform X5

      Conserved Domains (6) summary
      smart00129
      Location:6336
      KISc; Kinesin motor, catalytic domain. ATPase
      COG0419
      Location:345915
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      COG1196
      Location:16762408
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR04523
      Location:6601366
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      cd01374
      Location:6329
      KISc_CENP_E; Kinesin motor domain, CENP-E/KIP2-like subgroup
      pfam04880
      Location:828911
      NUDE_C; NUDE protein, C-terminal conserved region
    5. XM_011531547.2XP_011529849.1  centromere-associated protein E isoform X4

      Conserved Domains (6) summary
      smart00129
      Location:6336
      KISc; Kinesin motor, catalytic domain. ATPase
      COG0419
      Location:345915
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      COG1196
      Location:16762478
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR04523
      Location:6601366
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      cd01374
      Location:6329
      KISc_CENP_E; Kinesin motor domain, CENP-E/KIP2-like subgroup
      pfam04880
      Location:828911
      NUDE_C; NUDE protein, C-terminal conserved region
    6. XM_011531544.2XP_011529846.1  centromere-associated protein E isoform X1

      Conserved Domains (6) summary
      smart00129
      Location:6336
      KISc; Kinesin motor, catalytic domain. ATPase
      COG0419
      Location:345890
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      COG1196
      Location:16512457
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR04523
      Location:6351341
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      cd01374
      Location:6329
      KISc_CENP_E; Kinesin motor domain, CENP-E/KIP2-like subgroup
      pfam04880
      Location:803886
      NUDE_C; NUDE protein, C-terminal conserved region
    7. XM_011531546.3XP_011529848.1  centromere-associated protein E isoform X3

      Conserved Domains (5) summary
      smart00129
      Location:6336
      KISc; Kinesin motor, catalytic domain. ATPase
      COG1196
      Location:16082414
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR04523
      Location:12671910
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      cd01374
      Location:6329
      KISc_CENP_E; Kinesin motor domain, CENP-E/KIP2-like subgroup
      pfam04880
      Location:828911
      NUDE_C; NUDE protein, C-terminal conserved region
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