• Gene id: 165918

Gene Summary

• Gene Symbol: RNF168   Gene   UCSC   Ensembl
• Aliases: RIDL, hRNF168
• Gene name: ring finger protein 168
• Alternate names: E3 ubiquitin-protein ligase RNF168, RING-type E3 ubiquitin transferase RNF168, ring finger protein 168, E3 ubiquitin protein ligase,
• Gene location: 3q29 (196503767: 196468782)     Exons: 6     NC_000003.12
• Gene summary(Entrez): This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-st
• OMIM: 612688

Protein Summary

• Protein general information: Q8IYW5  
  • Name: E3 ubiquitin protein ligase RNF168 (hRNF168) (EC 2.3.2.27) (RING finger protein 168) (RING type E3 ubiquitin transferase RNF168)
  • Length: 571  
  • Mass: 65020
• Sequence:

  MALPKDAIPSLSECQCGICMEILVEPVTLPCNHTLCKPCFQSTVEKASLCCPFCRRRVSSWTRYHTRRNSLVNVE
  LWTIIQKHYPRECKLRASGQESEEVADDYQPVRLLSKPGELRREYEEEISKVAAERRASEEEENKASEEYIQRLL
  AEEEEEEKRQAEKRRRAMEEQLKSDEELARKLSIDINNFCEGSISASPLNSRKSDPVTPKSEKKSKNKQRNTGDI
  QKYLTPKSQFGSASHSEAVQEVRKDSVSKDIDSSDRKSPTGQDTEIEDMPTLSPQISLGVGEQGADSSIESPMPW
  LCACGAEWYHEGNVKTRPSNHGKELCVLSHERPKTRVPYSKETAVMPCGRTESGCAPTSGVTQTNGNNTGETENE
  ESCLLISKEISKRKNQESSFEAVKDPCFSAKRRKVSPESSPDQEETEINFTQKLIDLEHLLFERHKQEEQDRLLA
  LQLQKEVDKEQMVPNRQKGSPDEYHLRATSSPPDKVLNGQRKNPKDGNFKRQTHTKHPTPERGSRDKNRQVSLKM
  QLKQSVNRRKMPNSTRDHCKVSKSAHSLQPSISQKSVFQMFQRCTK

• Structural information:
  • Interpro: IPR034725  IPR001841  IPR013083  
  • Prosite: PS50089
  • PDB: 3L11 4GB0 5XIS 5XIT 5XIU 5YDK
  • PDBsum: 3L11 4GB0 5XIS 5XIT 5XIU 5YDK
  • DIP: 37451
  • STRING: ENSP00000320898
• Other Databases: GeneCards:  RNF168  Malacards:  RNF168

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070535	histone H2A K63-linked ubiquitination	IDA	biological process
GO:0070535	histone H2A K63-linked ubiquitination	IDA	biological process
GO:0070535	histone H2A K63-linked ubiquitination	IDA	biological process
GO:0070534	protein K63-linked ubiquitination	IDA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0036352	histone H2A-K15 ubiquitination	IDA	biological process
GO:0036351	histone H2A-K13 ubiquitination	IDA	biological process
GO:0035861	site of double-strand break	IDA	cellular component
GO:0035861	site of double-strand break	IDA	cellular component
GO:0035518	histone H2A monoubiquitination	IDA	biological process
GO:0031491	nucleosome binding	IDA	molecular function
GO:0016567	protein ubiquitination	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006302	double-strand break repair	IDA	biological process
GO:0070535	histone H2A K63-linked ubiquitination	IMP	biological process
GO:0036297	interstrand cross-link repair	TAS	biological process
GO:0042393	histone binding	IMP	molecular function
GO:0004842	ubiquitin-protein transferase activity	IMP	molecular function
GO:0045190	isotype switching	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045739	positive regulation of DNA repair	IMP	biological process
GO:0035518	histone H2A monoubiquitination	IMP	biological process
GO:0036352	histone H2A-K15 ubiquitination	IMP	biological process
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0006302	double-strand break repair	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	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:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003682	chromatin binding	IEA	molecular function
GO:0042393	histone binding	IEA	molecular function
GO:0000151	ubiquitin ligase complex	IEA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0010212	response to ionizing radiation	IEA	biological process
GO:0033522	histone H2A ubiquitination	IEA	biological process
GO:0045739	positive regulation of DNA repair	IEA	biological process
GO:0043130	ubiquitin binding	IEA	molecular function
GO:0006302	double-strand break repair	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0045739	positive regulation of DNA repair	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045739	positive regulation of DNA repair	IDA	biological process
GO:0043130	ubiquitin binding	IDA	molecular function
GO:0043130	ubiquitin binding	IDA	molecular function
GO:0010212	response to ionizing radiation	IDA	biological process
GO:0010212	response to ionizing radiation	IDA	biological process
GO:0006302	double-strand break repair	IDA	biological process
GO:0006302	double-strand break repair	IDA	biological process
GO:0042393	histone binding	IDA	molecular function
GO:0042393	histone binding	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0000151	ubiquitin ligase complex	IDA	cellular component
GO:0000151	ubiquitin ligase complex	IDA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0034244	negative regulation of transcription elongation from RNA polymerase II promoter	IMP	biological process

Diseases

Associated diseases	References
RIDDLE syndrome	KEGG:H00962
RIDDLE syndrome	KEGG:H00962
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 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