• Gene id: 138065

Gene Summary

• Gene Symbol: RNF183   Gene   UCSC   Ensembl
• Gene name: ring finger protein 183
• Alternate names: E3 ubiquitin-protein ligase RNF183, probable E3 ubiquitin-protein ligase RNF183,
• Gene location: 9q32 (113303876: 113297092)     Exons: 6     NC_000009.12

Protein Summary

• Protein general information: Q96D59  
  • Name: E3 ubiquitin protein ligase RNF183 (EC 2.3.2.27)
  • Length: 192  
  • Mass: 21617
  • Tissue specificity: Kidney and testis. {ECO
• Sequence:

  MAEQQGRELEAECPVCWNPFNNTFHTPKMLDCCHSFCVECLAHLSLVTPARRRLLCPLCRQPTVLASGQPVTDLP
  TDTAMLALLRLEPHHVILEGHQLCLKDQPKSRYFLRQPQVYTLDLGPQPGGQTGPPPDTASATVSTPILIPSHHS
  LRECFRNPQFRIFAYLMAVILSVTLLLIFSIFWTKQFLWGVG

• Structural information:
  • Interpro: IPR001841  IPR013083  IPR017907  
  • Prosite: PS00518 PS50089
  • STRING: ENSP00000419454
• Other Databases: GeneCards:  RNF183  Malacards:  RNF183

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0034976	response to endoplasmic reticulum stress	IDA	biological process
GO:0005765	lysosomal membrane	ISS	cellular component
GO:0061630	ubiquitin protein ligase activity	IMP	molecular function
GO:0033106	cis-Golgi network membrane	ISS	cellular component
GO:1902237	positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IMP	biological process
GO:0000209	protein polyubiquitination	IMP	biological process
GO:0051865	protein autoubiquitination	IMP	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0016020	membrane	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051865	protein autoubiquitination	IEA	biological process
GO:0033106	cis-Golgi network membrane	IEA	cellular component
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray