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Centromere protein E

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Centromere- and microtubule-associated protein

CENPE
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1T5C

Identifiers
AliasesCENPE, CENP-E, KIF10, PPP1R61, MCPH13, Centromere protein E
External IDsOMIM: 117143; MGI: 1098230; HomoloGene: 20429; GeneCards: CENPE; OMA:CENPE - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)
Chromosome 4 (human)Genomic location for CENPEGenomic location for CENPE
Band4q24Start103,105,349 bp
End103,198,445 bp
Gene location (Mouse)
Chromosome 3 (mouse)
Chr.Chromosome 3 (mouse)
Chromosome 3 (mouse)Genomic location for CENPEGenomic location for CENPE
Band3 G3|3 62.55 cMStart134,918,298 bp
End134,979,372 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • oocyte

  • ventricular zone

  • testicle

  • secondary oocyte

  • ganglionic eminence

  • gonad

  • trabecular bone

  • bone marrow

  • stromal cell of endometrium

  • bone marrow cells
Top expressed in
  • zygote

  • secondary oocyte

  • genital tubercle

  • tail of embryo

  • maxillary prominence

  • ventricular zone

  • primary oocyte

  • mandibular prominence

  • abdominal wall

  • vas deferens
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

1062

229841

Ensembl

ENSG00000138778

ENSMUSG00000045328

UniProt

Q02224

Q6RT24

RefSeq (mRNA)

NM_001286734
NM_001813

NM_173762

RefSeq (protein)

NP_001273663
NP_001804

NP_776123

Location (UCSC)Chr 4: 103.11 – 103.2 MbChr 3: 134.92 – 134.98 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Centromere-associated protein E is a protein that in humans is encoded by the CENPE gene.

Centromere-associated protein E is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centromere-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. CENPE is proposed to be one of the motors responsible for mammalian chromosome movement and/or spindle elongation.

CENPE is also called Kinesin-7.

Clinical significance

Mutations in CENPE result in autosomal recessive primary microcephaly type 13, which includes skeletal abnormalities and immunodeficiency.

See also

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000138778Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000045328Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Testa JR, Zhou JY, Bell DW, Yen TJ (Mar 1995). "Chromosomal localization of the genes encoding the kinetochore proteins CENPE and CENPF to human chromosomes 4q24→q25 and 1q32→q41, respectively, by fluorescence in situ hybridization". Genomics. 23 (3): 691–3. doi:10.1006/geno.1994.1558. PMID 7851898.
  6. ^ "Entrez Gene: CENPE centromere protein E, 312kDa".
  7. "OMIM Entry - # 616051 - MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13". www.omim.org. Retrieved 2020-01-25.

Further reading

PDB gallery
  • 1t5c: Crystal structure of the motor domain of human kinetochore protein CENP-E 1t5c: Crystal structure of the motor domain of human kinetochore protein CENP-E
Cytogenetics: chromosomes
Basic
concepts
Types
Processes
and evolution
Structures
Histone
Centromere
See also


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