Centromere protein E

CENPE
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCENPE, CENP-E, KIF10, PPP1R61, MCPH13, Centromere protein E
External IDsOMIM: 117143; MGI: 1098230; HomoloGene: 20429; GeneCards: CENPE; OMA:CENPE - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Centromere-associated protein E is a protein that in humans is encoded by the CENPE gene.[5][6]

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.[6]

CENPE is also called Kinesin-7.

Clinical significance

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Mutations in CENPE result in autosomal recessive primary microcephaly type 13, which includes skeletal abnormalities and immunodeficiency.[7]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000138778Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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

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