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CENPE centromere protein E [ Homo sapiens (human) ]

Gene ID: 1062, updated on 2-Oct-2018

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; 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

Genomic context

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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystem (from REACTOME)
    COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER is mediated in part by microtubule-directed COPI-coated vesicles (Letourneur et al, 1994; Shima et al, 1999; Spang et al, 1998; reviewed i...
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Golgi-to-ER retrograde transport, organism-specific biosystem (from REACTOME)
    Golgi-to-ER retrograde transport, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER occurs through either COPI-coated vesicles or through a less well characterized RAB6-dependent route that makes use of tubular carriers (r...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
  • Kinesins, organism-specific biosystem (from REACTOME)
    Kinesins, organism-specific biosystemKinesins are a superfamily of microtubule-based motor proteins that have diverse functions in transport of vesicles, organelles and chromosomes, and regulate microtubule dynamics. There are 14 famil...
  • 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...
  • MHC class II antigen presentation, organism-specific biosystem (from REACTOME)
    MHC class II antigen presentation, organism-specific biosystemAntigen presenting cells (APCs) such as B cells, dendritic cells (DCs) and monocytes/macrophages express major histocompatibility complex class II molecules (MHC II) at their surface and present exog...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    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
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
  • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    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)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IDA
Inferred from Direct Assay
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 
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 
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 
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)

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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