• Gene id: 254225

Gene Summary

• Gene Symbol: RNF169   Gene   UCSC   Ensembl
• Gene name: ring finger protein 169
• Alternate names: E3 ubiquitin-protein ligase RNF169, RING-type E3 ubiquitin transferase RNF169,
• Gene location: 11q13.4 (74748848: 74842412)     Exons: 6     NC_000011.10
• OMIM: 608668

Protein Summary

• Protein general information: Q8NCN4  
  • Name: E3 ubiquitin protein ligase RNF169 (EC 2.3.2.27) (RING finger protein 169) (RING type E3 ubiquitin transferase RNF169)
  • Length: 708  
  • Mass: 77194
• Sequence:

  MAAAGPSTRASSAAAAAALSRRGRRGRCDETAAAKTGAPGPASGPSLLVLSPPLLQPPLPPRPEESGCAGCLEPP
  GEAAALPCGHSLCRGCAQRAADAAGPGCPRCRARGPGWARRRARDDGQADSEVLGECARRSQPERCRPRRDGGAA
  AAGPRPEQEPRAAPAEPDFIFRAPIKLSKPGELREEYESLRKLREEKLQEEKPSEDQIHKLLPEDTETGKRKMDE
  QKKRDEPLVLKTNLERCPARLSDSENEEPSRGQMTQTHRSAFVSKNNSYSLAFLAGKLNSKVERSQSCSDTAQER
  AKSRVRAVPGNKAKVTTMTPASNPIIGVLLSTQNNRCVSAPDLTIEKRLPFSSLSSLASLHKPERSVSPESNDSI
  SEELNHFKPIVCSPCTPPKRLPDGRVLSPLIIKSTPRNLNRSLQKQTSYEASPRILKKWEQIFQERQIKKTLSKA
  TLTSLAPEMGEELLGSEGIHSSKEKPLVAVNTRLSGGQVLSEYTGPTSADLDHFPSVSQTKAEQDSDNKSSTEIP
  LETCCSSELKGGGSGTSLEREQFEGLGSTPDAKLDKTCISRAMKITTVNSVLPQNSVLGGVLKTKQQLKTLNHFD
  LTNGVLVESLSEEPLPSLRRGRKRHCKTKHLEQNGSLKKLRQTSGEVGLAPTDPVLREMEQKLQQEEEDRQLALQ
  LQRMFDNERRTVSRRKGSVDQYLLRSSNMAGAK

• Structural information:
  • Interpro: IPR001841  IPR013083  IPR017907  
  • Prosite: PS00518 PS50089
  • PDB: 5GG4 5VEY
  • PDBsum: 5GG4 5VEY
  • STRING: ENSP00000299563
• Other Databases: GeneCards:  RNF169  Malacards:  RNF169

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000780	negative regulation of double-strand break repair	IDA	biological process
GO:0005654	nucleoplasm	IDA	cellular component
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:0035861	site of double-strand break	IDA	cellular component
GO:0035861	site of double-strand break	IDA	cellular component
GO:0035861	site of double-strand break	IDA	cellular component
GO:0031491	nucleosome binding	IDA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:2000780	negative regulation of double-strand break repair	IMP	biological process
GO:2000780	negative regulation of double-strand break repair	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	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: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:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq