• Gene id: 55743

Gene Summary

• Gene Symbol: CHFR   Gene   UCSC   Ensembl
• Aliases: RNF116, RNF196
• Gene name: checkpoint with forkhead and ring finger domains
• Alternate names: E3 ubiquitin-protein ligase CHFR, RING finger protein 196, RING-type E3 ubiquitin transferase CHFR, checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase,
• Gene location: 12q24.33 (84077974: 84238497)     Exons: 18     NC_000001.11
• Gene summary(Entrez): This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has
• OMIM: 605209

Protein Summary

• Protein general information: Q96EP1  
  • Name: E3 ubiquitin protein ligase CHFR (EC 2.3.2.27) (Checkpoint with forkhead and RING finger domains protein) (RING finger protein 196) (RING type E3 ubiquitin transferase CHFR)
  • Length: 664  
  • Mass: 73386
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MERPEEGKQSPPPQPWGRLLRLGAEEGEPHVLLRKREWTIGRRRGCDLSFPSNKLVSGDHCRIVVDEKSGQVTLE
  DTSTSGTVINKLKVVKKQTCPLQTGDVIYLVYRKNEPEHNVAYLYESLSEKQGMTQESFEANKENVFHGTKDTSG
  AGAGRGADPRVPPSSPATQVCFEEPQPSTSTSDLFPTASASSTEPSPAGRERSSSCGSGGGGISPKGSGPSVASD
  EVSSFASALPDRKTASFSSLEPQDQEDLEPVKKKMRGDGDLDLNGQLLVAQPRRNAQTVHEDVRAAAGKPDKMEE
  TLTCIICQDLLHDCVSLQPCMHTFCAACYSGWMERSSLCPTCRCPVERICKNHILNNLVEAYLIQHPDKSRSEED
  VQSMDARNKITQDMLQPKVRRSFSDEEGSSEDLLELSDVDSESSDISQPYVVCRQCPEYRRQAAQPPHCPAPEGE
  PGAPQALGDAPSTSVSLTTAVQDYVCPLQGSHALCTCCFQPMPDRRAEREQDPRVAPQQCAVCLQPFCHLYWGCT
  RTGCYGCLAPFCELNLGDKCLDGVLNNNSYESDILKNYLATRGLTWKNMLTESLVALQRGVFLLSDYRVTGDTVL
  CYCCGLRSFRELTYQYRQNIPASELPVAVTSRPDCYWGRNCRTQVKAHHAMKFNHICEQTRFKN

• Structural information:
  • Protein Domains: (38..8-)
    (/note="FHA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00086"-)
  • Interpro: IPR019406  IPR040909  IPR000253  IPR008984  IPR001841   IPR013083  IPR017907  
  • Prosite: PS50006 PS00518 PS50089
  • CDD: cd00060
  • PDB: 1LGP 1LGQ 2XOC 2XOY 2XOZ 2XP0
  • PDBsum: 1LGP 1LGQ 2XOC 2XOY 2XOZ 2XP0
  • DIP: 40098
  • STRING: ENSP00000392395
• Other Databases: GeneCards:  CHFR  Malacards:  CHFR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007093	mitotic cell cycle checkpoint	IBA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0004842	ubiquitin-protein transferase activity	IBA	molecular function
GO:0016567	protein ubiquitination	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0019941	modification-dependent protein catabolic process	IDA	biological process
GO:0016605	PML body	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0000166	nucleotide binding	IDA	molecular function
GO:0007093	mitotic cell cycle checkpoint	IMP	biological process
GO:0007093	mitotic cell cycle checkpoint	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0000278	mitotic cell cycle	IEA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0031648	protein destabilization	IEA	biological process
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0000209	protein polyubiquitination	IEA	biological process
GO:0031398	positive regulation of protein ubiquitination	IEA	biological process
GO:0016605	PML body	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0007093	mitotic cell cycle checkpoint	TAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq