CHFR

CHFR
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; GeneCards: CHFR
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1LGP, 1LGQ, 2XOC, 2XOY, 2XOZ, 2XP0
Enzyme activity
Gene location (Human)
Chr.	Chromosome 12 (human)
End	132,956,304 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	110,319,838 bp
RNA expression pattern
	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
	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
Databases	NCBI: entry; OMA: entry
	55743
	231600
	ENSG00000072609
	ENSMUSG00000014668
	Q96EP1
	Q810L3
	NM_018223; NM_001161344; NM_001161345; NM_001161346; NM_001161347
	NM_001289577; NM_001289578; NM_001289579; NM_001289580; NM_172717
	NP_001154816; NP_001154817; NP_001154818; NP_001154819; NP_060693
	NP_001276506; NP_001276507; NP_001276508; NP_001276509; NP_766305
	Wikidata
View/Edit Human	View/Edit Mouse

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

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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000072609 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000014668 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Scolnick DM, Halazonetis TD (August 2000). "Chfr defines a mitotic stress checkpoint that delays entry into metaphase". Nature. 406 (6794): 430–435. Bibcode:2000Natur.406..430S. doi:10.1038/35019108. PMID 10935642. S2CID 4401185.
↑ Kang D, Chen J, Wong J, Fang G (January 2002). "The checkpoint protein Chfr is a ligase that ubiquitinates Plk1 and inhibits Cdc2 at the G2 to M transition". The Journal of Cell Biology. 156 (2): 249–259. doi:10.1083/jcb.200108016. PMC 2199220. PMID 11807090.
↑ "Entrez Gene: CHFR checkpoint with forkhead and ring finger domains". YouTube.
1 2 Lu LY, Yu X (2015). "CHFR is important for the survival of male premeiotic germ cells". Cell Cycle. 14 (21). Georgetown, Tex.: 3454–3460. doi:10.1080/15384101.2015.1093701. PMC 4825563. PMID 26566864.

External links

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

Chaturvedi P, Sudakin V, Bobiak ML, Fisher PW, Mattern MR, Jablonski SA, et al. (March 2002). "Chfr regulates a mitotic stress pathway through its RING-finger domain with ubiquitin ligase activity". Cancer Research. 62 (6): 1797–1801. PMID 11912157.
Mizuno K, Osada H, Konishi H, Tatematsu Y, Yatabe Y, Mitsudomi T, et al. (April 2002). "Aberrant hypermethylation of the CHFR prophase checkpoint gene in human lung cancers". Oncogene. 21 (15): 2328–2333. doi:10.1038/sj.onc.1205402. PMID 11948416. S2CID 1447106.
Stavridi ES, Huyen Y, Loreto IR, Scolnick DM, Halazonetis TD, Pavletich NP, et al. (July 2002). "Crystal structure of the FHA domain of the Chfr mitotic checkpoint protein and its complex with tungstate". Structure. 10 (7). London: 891–899. doi:10.1016/S0969-2126(02)00776-1. PMID 12121644.
Shibata Y, Haruki N, Kuwabara Y, Ishiguro H, Shinoda N, Sato A, et al. (October 2002). "Chfr expression is downregulated by CpG island hypermethylation in esophageal cancer". Carcinogenesis. 23 (10): 1695–1699. doi:10.1093/carcin/23.10.1695. PMID 12376479.
Corn PG, Summers MK, Fogt F, Virmani AK, Gazdar AF, Halazonetis TD, et al. (January 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, Ogi K, Kikuchi T, Suzuki H, et al. (June 2003). "Epigenetic inactivation of CHFR in human tumors". Proceedings of the National Academy of Sciences of the United States of America. 100 (13): 7818–7823. Bibcode:2003PNAS..100.7818T. doi:10.1073/pnas.1337066100. PMC 164671. PMID 12810945.
Bothos J, Summers MK, Venere M, Scolnick DM, Halazonetis TD (October 2003). "The Chfr mitotic checkpoint protein functions with Ubc13-Mms2 to form Lys63-linked polyubiquitin chains". Oncogene. 22 (46): 7101–7107. doi:10.1038/sj.onc.1206831. PMID 14562038. S2CID 34904290.
Mariatos G, Bothos J, Zacharatos P, Summers MK, Scolnick DM, Kittas C, et al. (November 2003). "Inactivating mutations targeting the chfr mitotic checkpoint gene in human lung cancer". Cancer Research. 63 (21): 7185–7189. PMID 14612512.
Shtivelman E (November 2003). "Promotion of mitosis by activated protein kinase B after DNA damage involves polo-like kinase 1 and checkpoint protein CHFR". Molecular Cancer Research. 1 (13): 959–969. PMID 14638868.
Bertholon J, Wang Q, Falette N, Verny C, Auclair J, Chassot C, et al. (December 2003). "Chfr inactivation is not associated to chromosomal instability in colon cancers". Oncogene. 22 (55): 8956–8960. 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). Molecular Carcinogenesis. 39 (1): 26–33. doi:10.1002/mc.10161. hdl:2027.42/35063. PMID 14694445. S2CID 25674441.
Satoh A, Toyota M, Itoh F, Sasaki Y, Suzuki H, Ogi K, et al. (December 2003). "Epigenetic inactivation of CHFR and sensitivity to microtubule inhibitors in gastric cancer". Cancer Research. 63 (24): 8606–8613. PMID 14695171.
Kang HC, Kim IJ, Park JH, Shin Y, Park HW, Ku JL, et al. (July 2004). "Promoter hypermethylation and silencing of CHFR mitotic stress checkpoint gene in human gastric cancers". Oncology Reports. 12 (1): 129–133. 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". The Journal of Cell Biology. 166 (4): 507–516. 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". Nature Structural & Molecular Biology. 11 (11): 1114–1121. doi:10.1038/nsmb837. PMID 15467728. S2CID 246702.

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000072609 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[Scolnick_2000-5] Scolnick DM, Halazonetis TD (August 2000). "Chfr defines a mitotic stress checkpoint that delays entry into metaphase". Nature. 406 (6794): 430–435. Bibcode:2000Natur.406..430S. doi:10.1038/35019108. PMID 10935642. S2CID 4401185.

[Kang_2002-6] Kang D, Chen J, Wong J, Fang G (January 2002). "The checkpoint protein Chfr is a ligase that ubiquitinates Plk1 and inhibits Cdc2 at the G2 to M transition". The Journal of Cell Biology. 156 (2): 249–259. doi:10.1083/jcb.200108016. PMC 2199220. PMID 11807090.

[entrez-7] "Entrez Gene: CHFR checkpoint with forkhead and ring finger domains". YouTube.

[Lu2015-8] 1 2 Lu LY, Yu X (2015). "CHFR is important for the survival of male premeiotic germ cells". Cell Cycle. 14 (21). Georgetown, Tex.: 3454–3460. doi:10.1080/15384101.2015.1093701. PMC 4825563. PMID 26566864.

CHFR

References

External links

Further reading