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    CENPE centromere protein E [ Homo sapiens (human) ]

    Gene ID: 1062, updated on 10-Dec-2024

    Summary

    Official Symbol
    CENPEprovided by HGNC
    Official Full Name
    centromere protein Eprovided by HGNC
    Primary source
    HGNC:HGNC:1856
    See related
    Ensembl:ENSG00000138778 MIM:117143; AllianceGenome:HGNC:1856
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CENPE in Genome Data Viewer
    Location:
    4q24
    Exon count:
    49
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (103105811..103198343, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (106417702..106510204, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (104026968..104119500, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 9 member B1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:103940703-103941203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21763 Neighboring gene solute carrier family 9 member B2 Neighboring gene 3-hydroxybutyrate dehydrogenase 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:104119362-104119916 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:104176632-104177831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:104228025-104228542 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:104295695-104296229 Neighboring gene NANOG hESC enhancer GRCh37_chr4:104345927-104346428 Neighboring gene long intergenic non-protein coding RNA 2428 Neighboring gene TACR3 antisense RNA 1 Neighboring gene DEAD-box helicase 3 pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Microcephaly 13, primary, autosomal recessive
    MedGen: C4015080 OMIM: 616051 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables kinetochore binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables microtubule motor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables microtubule motor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in attachment of mitotic spindle microtubules to kinetochore IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in kinetochore assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lateral attachment of mitotic spindle microtubules to kinetochore IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in metaphase chromosome alignment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in microtubule plus-end directed mitotic chromosome migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in microtubule-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitotic chromosome movement towards spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitotic metaphase chromosome alignment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitotic spindle organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of mitotic metaphase/anaphase transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome, centromeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in condensed chromosome, centromeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in kinetochore microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    is_active_in microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
     
    located_in mitotic spindle midzone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in spindle midzone IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5067..97599
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Status: REVIEWED

      Source sequence(s)
      AB209996, AC079919, BQ447425
      Consensus CDS
      CCDS68768.1
      UniProtKB/Swiss-Prot
      Q02224
      Related
      ENSP00000369365.3, ENST00000380026.8
      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_001813.3NP_001804.2  centromere-associated protein E isoform 1 precursor

      See identical proteins and their annotated locations for NP_001804.2

      Status: REVIEWED

      Source sequence(s)
      AA210728, AA210858, AC079919, AL596934, AU100312, AW499901, BQ231878, BQ434767, BQ447425, CD644410, CN418651, Z15005
      Consensus CDS
      CCDS34042.1
      UniProtKB/Swiss-Prot
      A6NKY9, A8K2U7, Q02224, Q4LE75
      Related
      ENSP00000265148.3, ENST00000265148.9
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      103105811..103198343 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449534.1XP_047305490.1  centromere-associated protein E isoform X5

    2. XM_047449541.1XP_047305497.1  centromere-associated protein E isoform X15

    3. XM_047449533.1XP_047305489.1  centromere-associated protein E isoform X4

    4. XM_047449536.1XP_047305492.1  centromere-associated protein E isoform X9

    5. XM_011531544.3XP_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
    6. XM_047449535.1XP_047305491.1  centromere-associated protein E isoform X8

    7. XM_047449540.1XP_047305496.1  centromere-associated protein E isoform X14

    8. XM_047449539.1XP_047305495.1  centromere-associated protein E isoform X13

    9. XM_011531546.4XP_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
    10. XM_011531549.3XP_011529851.1  centromere-associated protein E isoform X10

      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
    11. XM_017007659.2XP_016863148.1  centromere-associated protein E isoform X12

    12. XM_047449538.1XP_047305494.1  centromere-associated protein E isoform X11

    13. XM_011531545.3XP_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
    14. XM_011531548.3XP_011529850.1  centromere-associated protein E isoform X7

      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
    15. XM_011531547.3XP_011529849.1  centromere-associated protein E isoform X6

      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      106417702..106510204 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348782.1XP_054204757.1  centromere-associated protein E isoform X5

    2. XM_054348792.1XP_054204767.1  centromere-associated protein E isoform X15

    3. XM_054348781.1XP_054204756.1  centromere-associated protein E isoform X4

    4. XM_054348786.1XP_054204761.1  centromere-associated protein E isoform X9

    5. XM_054348778.1XP_054204753.1  centromere-associated protein E isoform X1

    6. XM_054348785.1XP_054204760.1  centromere-associated protein E isoform X8

    7. XM_054348791.1XP_054204766.1  centromere-associated protein E isoform X14

    8. XM_054348790.1XP_054204765.1  centromere-associated protein E isoform X13

    9. XM_054348780.1XP_054204755.1  centromere-associated protein E isoform X3

    10. XM_054348787.1XP_054204762.1  centromere-associated protein E isoform X10

    11. XM_054348789.1XP_054204764.1  centromere-associated protein E isoform X12

    12. XM_054348788.1XP_054204763.1  centromere-associated protein E isoform X11

    13. XM_054348779.1XP_054204754.1  centromere-associated protein E isoform X2

    14. XM_054348784.1XP_054204759.1  centromere-associated protein E isoform X7

    15. XM_054348783.1XP_054204758.1  centromere-associated protein E isoform X6