Centromere protein E

Source: Wikipedia, the free encyclopedia.
CENPE
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
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

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

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

See also

References

  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. 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