• Gene id: 11236

Gene Summary

• Gene Symbol: RNF139   Gene   UCSC   Ensembl
• Aliases: HRCA1, RCA1, TRC8
• Gene name: ring finger protein 139
• Alternate names: E3 ubiquitin-protein ligase RNF139, RING-type E3 ubiquitin transferase RNF139, multiple membrane spanning receptor TRC8, patched related protein translocated in renal cancer, translocation in renal carcinoma on chromosome 8 protein, translocation in renal carc,
• Gene location: 8q24.13 (124474879: 124488617)     Exons: 2     NC_000008.11
• Gene summary(Entrez): The protein encoded by this gene is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin ligase activity. This gene was found to be interrupted by a t(
• OMIM: 603046

Protein Summary

• Protein general information: Q8WU17  
  • Name: E3 ubiquitin protein ligase RNF139 (EC 2.3.2.27) (RING finger protein 139) (RING type E3 ubiquitin transferase RNF139) (Translocation in renal carcinoma on chromosome 8 protein)
  • Length: 664  
  • Mass: 75994
  • Tissue specificity: Highly expressed in testis, placenta and adrenal gland. Moderate expression in heart, brain, liver, skeletal muscle and pancreas, and low expression in lung and kidney. {ECO
• Sequence:

  MAAVGPPQQQVRMAHQQVWAALEVALRVPCLYIIDAIFNSYPDSSQSRFCIVLQIFLRLFGVFASSIVLILSQRS
  LFKFYTYSSAFLLAATSVLVNYYASLHIDFYGAYNTSAFGIELLPRKGPSLWMALIVLQLTFGIGYVTLLQIHSI
  YSQLIILDLLVPVIGLITELPLHIRETLLFTSSLILTLNTVFVLAVKLKWFYYSTRYVYLLVRHMYRIYGLQLLM
  EDTWKRIRFPDILRVFWLTRVTAQATVLMYILRMANETDSFFISWDDFWDLICNLIISGCDSTLTVLGMSAVISS
  VAHYLGLGILAFIGSTEEDDRRLGFVAPVLFFILALQTGLSGLRPEERLIRLSRNMCLLLTAVLHFIHGMTDPVL
  MSLSASHVSSFRRHFPVLFVSACLFILPVLLSYVLWHHYALNTWLFAVTAFCVELCLKVIVSLTVYTLFMIDGYY
  NVLWEKLDDYVYYVRSTGSIIEFIFGVVMFGNGAYTMMFESGSKIRAFMMCLHAYFNIYLQAKNGWKTFMNRRTA
  VKKINSLPEIKGSRLQEINDVCAICYHEFTTSARITPCNHYFHALCLRKWLYIQDTCPMCHQKVYIEDDIKDNSN
  VSNNNGFIPPNETPEEAVREAAAESDRELNEDDSTDCDDDVQRERNGVIQHTGAAAEEFNDDTD

• Structural information:
  • Interpro: IPR025754  IPR001841  IPR011016  IPR013083  
  • Prosite: PS50089
  • STRING: ENSP00000304051
• Other Databases: GeneCards:  RNF139  Malacards:  RNF139

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036513	Derlin-1 retrotranslocation complex	IDA	cellular component
GO:0036503	ERAD pathway	IMP	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0012505	endomembrane system	IBA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0036503	ERAD pathway	IBA	biological process
GO:0031648	protein destabilization	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:0002020	protease binding	IPI	molecular function
GO:2000060	positive regulation of ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0061630	ubiquitin protein ligase activity	TAS	molecular function
GO:1904380	endoplasmic reticulum mannose trimming	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016567	protein ubiquitination	IDA	biological process
GO:0019787	ubiquitin-like protein transferase activity	IDA	molecular function
GO:0016567	protein ubiquitination	IDA	biological process
GO:0060628	regulation of ER to Golgi vesicle-mediated transport	IDA	biological process
GO:0017148	negative regulation of translation	IDA	biological process
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0070613	regulation of protein processing	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0016567	protein ubiquitination	IMP	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0004842	ubiquitin-protein transferase activity	IMP	molecular function

Diseases

Associated diseases	References
renal cell carcinoma	PMID:17539022
renal cell carcinoma	PMID:9689122
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881