Centromere protein E

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

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
Gene location (Human)
Chr.Chromosome 4 (human)[1]
Band4q24Start103,105,349 bp[1]
End103,198,445 bp[1]
RNA expression pattern
More reference expression data
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: 135.21 – 135.27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

Clinical significance

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

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000138778 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000045328 - Ensembl, 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


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.