CHFR

E3 ubiquitin-protein ligase CHFR is an enzyme that in humans is encoded by the CHFR gene.

CHFR
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1LGP, 1LGQ, 2XOC, 2XOY, 2XOZ, 2XP0
Identifiers
Aliases	CHFR, RNF116, RNF196, checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase, checkpoint with forkhead and ring finger domains
External IDs	OMIM: 605209; MGI: 2444898; HomoloGene: 10078; GeneCards: CHFR; OMA:CHFR - orthologs
Gene location (Human) Chr. Chromosome 12 (human) Band 12q24.33 Start 132,822,187 bp End 132,956,304 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 F Start 110,283,708 bp End 110,319,838 bp
RNA expression pattern Bgee Human Mouse (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 Species Human Mouse 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 Mb Chr 5: 110.28 – 110.32 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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. About 30% of male CHFR knockout mice are infertile. 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.

External links

• Human CHFR genome location and CHFR gene details page in the UCSC Genome Browser.

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.