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CENPF

Centromere- and microtubule-associated protein

CENPF

Centromere protein F is a protein that in humans is encoded by the CENPF gene. It is involved in chromosome segregation during cell division. It also has a role in the orientation of microtubules to form cellular cilia.

CENPF

CENPF
Identifiers
AliasesCENPF, CENF, PRO1779, hcp-1, CILD31, STROMS, centromere protein F
External IDsOMIM: 600236; MGI: 1313302; HomoloGene: 22969; GeneCards: CENPF; OMA:CENPF - orthologs
Orthologs
SpeciesHumanMouse
Entrez

1063

108000

Ensembl

ENSG00000117724

ENSMUSG00000026605

UniProt

P49454

n/a

RefSeq (mRNA)

NM_016343

NM_001081363

RefSeq (protein)

NP_057427

n/a

Location (UCSC)Chr 1: 214.6 – 214.66 MbChr 1: 189.37 – 189.42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Centromere protein F is a protein that in humans is encoded by the CENPF gene.[5][6][7] It is involved in chromosome segregation during cell division. It also has a role in the orientation of microtubules to form cellular cilia.[8][9]

Function

CENPF is part of the nuclear matrix during the G2 phase of the cell cycle (the phase of rapid protein synthesis in preparation for mitosis). In late G2, the protein forms part of the kinetochore, a disc-shaped protein complex that allows the centromere of two sister chromatids to attach to microtubules (forming the spindle apparatus) in order for the microtubules to pull them apart in the process of dividing the cell. It remains part of the kinetochore through early anaphase (the chromosome-dividing phase). In late anaphase, CENPF localises to the spindle midzone, and in telophase (the cell-dividing phase) it localises to the intercellular bridge. It is thought to be subsequently degraded. Mutations in CENPF lead to impaired cell division during early development. Mitosis has been found to take longer when the gene is mutated.[8][9]

Microtubules are protein structures that are part of the cytoskeleton and are necessary for cells to have diverse, complex shapes and migratory ability. They are made by the centrosome, which contains a pair of cylindrical centrioles at right-angles to each other. Before division, CENPF localises at the end of one of the centrioles (the mother centriole) in order to orient microtubules correctly to form thin cellular projections called cilia. Most cilia are primary cilia, which are involved in cell signalling to trigger migration, division or differentiation. Mutations in CENPF disrupt this ability to form cilia; cilia have been found to be fewer in number and shorter when the gene is mutated.[8][10]

CENPF is thought to form either a homodimer or heterodimer.

Clinical significance

Mutations in both copies of CENPF cause Strømme syndrome, characterised by microcephaly, eye abnormalities and apple-peel jejunal atresia.[11] Autoantibodies against CENPF have been found in patients with cancer or graft-versus-host disease.[7]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000117724 – Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026605 – 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. ↑ Rattner JB, Rao A, Fritzler MJ, Valencia DW, Yen TJ (Mar 1994). "CENP-F is a .ca 400 kDa kinetochore protein that exhibits a cell-cycle dependent localization". Cell Motility and the Cytoskeleton. 26 (3): 214–226. doi:10.1002/cm.970260305. PMID 7904902.
  6. ↑ 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): 691–693. doi:10.1006/geno.1994.1558. PMID 7851898.
  7. 1 2 "Entrez Gene: CENPF centromere protein F, 350/400ka (mitosin)".
  8. 1 2 3 Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, et al. (March 2015). "The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes". Journal of Medical Genetics. 52 (3): 147–156. doi:10.1136/jmedgenet-2014-102691. PMC 4345935. PMID 25564561.
  9. 1 2 Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, et al. (April 2016). "Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF". Human Mutation. 37 (4): 359–363. doi:10.1002/humu.22960. PMID 26820108. S2CID 1495539.
  10. ↑ "OMIM Entry - # 243605 - STROMME SYNDROME; STROMS". www.omim.org. Retrieved 2018-09-27.
  11. ↑ Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, et al. (April 2016). "Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF". Human Mutation. 37 (4): 359–363. doi:10.1002/humu.22960. PMID 26820108. S2CID 1495539.

Further reading