CHFR

Enzyme

CHFR
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1LGP, 1LGQ, 2XOC, 2XOY, 2XOZ, 2XP0

Identifiers
AliasesCHFR, RNF116, RNF196, checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase, checkpoint with forkhead and ring finger domains
External IDsOMIM: 605209; MGI: 2444898; HomoloGene: 10078; GeneCards: CHFR; OMA:CHFR - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for CHFR
Genomic location for CHFR
Band12q24.33Start132,822,187 bp[1]
End132,956,304 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for CHFR
Genomic location for CHFR
Band5|5 FStart110,283,708 bp[2]
End110,319,838 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • granulocyte

  • monocyte

  • skin of hip

  • sural nerve

  • blood

  • right testis

  • left testis

  • gastric mucosa

  • upper lobe of left lung

  • spleen
Top expressed in
  • spermatocyte

  • trigeminal ganglion

  • medullary collecting duct

  • endocardial cushion

  • atrioventricular valve

  • gastrula

  • blood

  • neural layer of retina

  • thymus

  • pineal gland
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • nucleotide binding
  • protein binding
  • ubiquitin protein ligase activity
  • metal ion binding
  • ubiquitin-protein transferase activity
  • transferase activity
Cellular component
  • PML body
  • nucleus
Biological process
  • mitotic cell cycle checkpoint signaling
  • cell division
  • mitotic cell cycle
  • cell cycle
  • protein polyubiquitination
  • modification-dependent protein catabolic process
  • positive regulation of protein ubiquitination
  • protein destabilization
  • positive regulation of proteasomal ubiquitin-dependent protein catabolic process
  • ubiquitin-dependent protein catabolic process
  • protein ubiquitination
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

55743

231600

Ensembl

ENSG00000072609

ENSMUSG00000014668

UniProt

Q96EP1

Q810L3

RefSeq (mRNA)

NM_018223
NM_001161344
NM_001161345
NM_001161346
NM_001161347

NM_001289577
NM_001289578
NM_001289579
NM_001289580
NM_172717

RefSeq (protein)

NP_001154816
NP_001154817
NP_001154818
NP_001154819
NP_060693

NP_001276506
NP_001276507
NP_001276508
NP_001276509
NP_766305

Location (UCSC)Chr 12: 132.82 – 132.96 MbChr 5: 110.28 – 110.32 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

E3 ubiquitin-protein ligase CHFR is an enzyme that in humans is encoded by the CHFR gene.[5][6][7]

CHFR is recruited to sites of DNA damage and participates in the DNA damage response. CHFR has an important role in the survival of male premeiotic germ cells.[8] About 30% of male CHFR knockout mice are infertile.[8] In these knockout mice spermatogenesis onset is delayed and apoptosis in premeiotic germ cells is significantly increased. When these mice are 3 months old there is a complete loss of germ cells in their testes.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000072609 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000014668 – 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. ^ Scolnick DM, Halazonetis TD (Aug 2000). "Chfr defines a mitotic stress checkpoint that delays entry into metaphase". Nature. 406 (6794): 430–5. Bibcode:2000Natur.406..430S. doi:10.1038/35019108. PMID 10935642. S2CID 4401185.
  6. ^ Kang D, Chen J, Wong J, Fang G (Jan 2002). "The checkpoint protein Chfr is a ligase that ubiquitinates Plk1 and inhibits Cdc2 at the G2 to M transition". J Cell Biol. 156 (2): 249–59. doi:10.1083/jcb.200108016. PMC 2199220. PMID 11807090.
  7. ^ "Entrez Gene: CHFR checkpoint with forkhead and ring finger domains". YouTube.
  8. ^ a b Lu LY, Yu X (2015). "CHFR is important for the survival of male premeiotic germ cells". Cell Cycle. 14 (21): 3454–3460. doi:10.1080/15384101.2015.1093701. PMC 4825563. PMID 26566864.

Further reading

  • Chaturvedi P, Sudakin V, Bobiak ML, et al. (2002). "Chfr regulates a mitotic stress pathway through its RING-finger domain with ubiquitin ligase activity". Cancer Res. 62 (6): 1797–801. PMID 11912157.
  • Mizuno K, Osada H, Konishi H, et al. (2002). "Aberrant hypermethylation of the CHFR prophase checkpoint gene in human lung cancers". Oncogene. 21 (15): 2328–33. doi:10.1038/sj.onc.1205402. PMID 11948416. S2CID 1447106.
  • Stavridi ES, Huyen Y, Loreto IR, et al. (2002). "Crystal structure of the FHA domain of the Chfr mitotic checkpoint protein and its complex with tungstate". Structure. 10 (7): 891–9. doi:10.1016/S0969-2126(02)00776-1. PMID 12121644.
  • Shibata Y, Haruki N, Kuwabara Y, et al. (2002). "Chfr expression is downregulated by CpG island hypermethylation in esophageal cancer". Carcinogenesis. 23 (10): 1695–9. doi:10.1093/carcin/23.10.1695. PMID 12376479.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Corn PG, Summers MK, Fogt F, et al. (2003). "Frequent hypermethylation of the 5' CpG island of the mitotic stress checkpoint gene Chfr in colorectal and non-small cell lung cancer". Carcinogenesis. 24 (1): 47–51. doi:10.1093/carcin/24.1.47. PMID 12538348.
  • Toyota M, Sasaki Y, Satoh A, et al. (2003). "Epigenetic inactivation of CHFR in human tumors". Proc. Natl. Acad. Sci. U.S.A. 100 (13): 7818–23. Bibcode:2003PNAS..100.7818T. doi:10.1073/pnas.1337066100. PMC 164671. PMID 12810945.
  • Bothos J, Summers MK, Venere M, et al. (2003). "The Chfr mitotic checkpoint protein functions with Ubc13-Mms2 to form Lys63-linked polyubiquitin chains". Oncogene. 22 (46): 7101–7. doi:10.1038/sj.onc.1206831. PMID 14562038. S2CID 34904290.
  • Mariatos G, Bothos J, Zacharatos P, et al. (2004). "Inactivating mutations targeting the chfr mitotic checkpoint gene in human lung cancer". Cancer Res. 63 (21): 7185–9. PMID 14612512.
  • Shtivelman E (2004). "Promotion of mitosis by activated protein kinase B after DNA damage involves polo-like kinase 1 and checkpoint protein CHFR". Mol. Cancer Res. 1 (13): 959–69. PMID 14638868.
  • Bertholon J, Wang Q, Falette N, et al. (2004). "Chfr inactivation is not associated to chromosomal instability in colon cancers". Oncogene. 22 (55): 8956–60. doi:10.1038/sj.onc.1207078. PMID 14654793. S2CID 8538887.
  • Erson AE, Petty EM (2004). "CHFR-associated early G2/M checkpoint defects in breast cancer cells" (PDF). Mol. Carcinog. 39 (1): 26–33. doi:10.1002/mc.10161. hdl:2027.42/35063. PMID 14694445. S2CID 25674441.
  • Satoh A, Toyota M, Itoh F, et al. (2004). "Epigenetic inactivation of CHFR and sensitivity to microtubule inhibitors in gastric cancer". Cancer Res. 63 (24): 8606–13. PMID 14695171.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Kang HC, Kim IJ, Park JH, et al. (2005). "Promoter hypermethylation and silencing of CHFR mitotic stress checkpoint gene in human gastric cancers". Oncol. Rep. 12 (1): 129–33. doi:10.3892/or.12.1.129. PMID 15201973.
  • Matsusaka T, Pines J (2004). "Chfr acts with the p38 stress kinases to block entry to mitosis in mammalian cells". J. Cell Biol. 166 (4): 507–16. doi:10.1083/jcb.200401139. PMC 2172205. PMID 15302856.
  • Daniels MJ, Marson A, Venkitaraman AR (2004). "PML bodies control the nuclear dynamics and function of the CHFR mitotic checkpoint protein". Nat. Struct. Mol. Biol. 11 (11): 1114–21. doi:10.1038/nsmb837. PMID 15467728. S2CID 246702.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • v
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  • e
  • 1lgp: Crystal structure of the FHA domain of the Chfr mitotic checkpoint protein complexed with tungstate
    1lgp: Crystal structure of the FHA domain of the Chfr mitotic checkpoint protein complexed with tungstate
  • 1lgq: Crystal structure of the FHA domain of the Chfr mitotic checkpoint protein
    1lgq: Crystal structure of the FHA domain of the Chfr mitotic checkpoint protein


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