Movatterモバイル変換


[0]ホーム

URL:


Jump to content
WikipediaThe Free Encyclopedia
Search

CENPF

From Wikipedia, the free encyclopedia
Centromere- and microtubule-associated protein
CENPF
Identifiers
AliasesCENPF, CENF, PRO1779, hcp-1, CILD31, STROMS, centromere protein F
External IDsOMIM:600236;MGI:1313302;HomoloGene:22969;GeneCards:CENPF;OMA:CENPF - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for CENPF
Genomic location for CENPF
Band1q41Start214,603,195bp[1]
End214,664,571bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for CENPF
Genomic location for CENPF
Band1 H6|1 95.03 cMStart189,372,803bp[2]
End189,420,283bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • ventricular zone

  • ganglionic eminence

  • gonad

  • testicle

  • trabecular bone

  • stromal cell of endometrium

  • bone marrow

  • bone marrow cell

  • mucosa of transverse colon

  • left testis
Top expressed in
  • zygote

  • primary oocyte

  • tail of embryo

  • genital tubercle

  • maxillary prominence

  • ventricular zone

  • secondary oocyte

  • fetal liver hematopoietic progenitor cell

  • superior cervical ganglion

  • mandibular prominence
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
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 aprotein that in humans is encoded by theCENPFgene.[5][6][7] It is involved inchromosome segregation duringcell division. It also has a role in the orientation ofmicrotubules toform cellularcilia.[8][9]

Function

[edit]

CENPF is part of thenuclear matrix during theG2 phase of thecell cycle (the phase of rapid protein synthesis in preparation formitosis). In late G2, the protein forms part of thekinetochore, a disc-shapedprotein complex that allows thecentromere of twosister chromatids to attach tomicrotubules (forming thespindle apparatus) in order for the microtubules to pull them apart in the process of dividing the cell. It remains part of the kinetochore through earlyanaphase (the chromosome-dividing phase). In late anaphase, CENPFlocalises to the spindle midzone, and intelophase (the cell-dividing phase) it localises to theintercellular bridge. It is thought to be subsequentlydegraded. Mutations inCENPF 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 thecytoskeleton and are necessary for cells to have diverse, complex shapes andmigratory ability. They are made by thecentrosome, which contains a pair of cylindricalcentrioles 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 toform thin cellular projections calledcilia. Most cilia are primary cilia, which are involved incell signalling to trigger migration, division ordifferentiation. Mutations inCENPF 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 ahomodimer orheterodimer.

Clinical significance

[edit]

Mutations in both copies ofCENPF causeStrømme syndrome, characterised by microcephaly, eye abnormalities and apple-peeljejunal atresia.[11]Autoantibodies against CENPF have been found in patients with cancer orgraft-versus-host disease.[7]

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000117724Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000026605Ensembl, 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 Motil Cytoskeleton.26 (3):214–26.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):691–3.doi:10.1006/geno.1994.1558.PMID 7851898.
  7. ^ab"Entrez Gene: CENPF centromere protein F, 350/400ka (mitosin)".
  8. ^abcWaters, Aoife M.; Asfahani, Rowan; Carroll, Paula; Bicknell, Louise; Lescai, Francesco; Bright, Alison; Chanudet, Estelle; Brooks, Anthony; Christou-Savina, Sonja; Osman, Guled; Walsh, Patrick (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.ISSN 1468-6244.PMC 4345935.PMID 25564561.
  9. ^abFilges, Isabel; Bruder, Elisabeth; Brandal, Kristin; Meier, Stephanie; Undlien, Dag Erik; Waage, Trine Rygvold; Hoesli, Irene; Schubach, Max; de Beer, Tjaart; Sheng, Ying; Hoeller, Sylvia (April 2016)."Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF".Human Mutation.37 (4):359–363.doi:10.1002/humu.22960.ISSN 1098-1004.PMID 26820108.S2CID 1495539.
  10. ^"OMIM Entry - # 243605 - STROMME SYNDROME; STROMS".www.omim.org. Retrieved2018-09-27.
  11. ^Filges, Isabel; Bruder, Elisabeth; Brandal, Kristin; Meier, Stephanie; Undlien, Dag Erik; Waage, Trine Rygvold; Hoesli, Irene; Schubach, Max; de Beer, Tjaart; Sheng, Ying; Hoeller, Sylvia (April 2016)."Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF".Human Mutation.37 (4):359–363.doi:10.1002/humu.22960.ISSN 1098-1004.PMID 26820108.S2CID 1495539.

External links

[edit]

Further reading

[edit]
Basic
concepts
Types
Processes
and evolution
Structures
Histone
Centromere
See also
Retrieved from "https://en.wikipedia.org/w/index.php?title=CENPF&oldid=1301004866"
Category:
Hidden categories:

[8]ページ先頭

©2009-2025 Movatter.jp