• Gene id: 81790

Gene Summary

• Gene Symbol: RNF170   Gene   UCSC   Ensembl
• Aliases: ADSA, SNAX1
• Gene name: ring finger protein 170
• Alternate names: E3 ubiquitin-protein ligase RNF170, RING-type E3 ubiquitin transferase RNF170, putative LAG1-interacting protein,
• Gene location: 8p11.21 (42897293: 42849636)     Exons: 12     NC_000008.11
• Gene summary(Entrez): This gene encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin ligase and mediates ubiquitination and processing of inositol 1,4,5-trisphosphate (IP3) receptors via the
• OMIM: 614649

Protein Summary

• Protein general information: Q96K19  
  • Name: E3 ubiquitin protein ligase RNF170 (EC 2.3.2.27) (Putative LAG1 interacting protein) (RING finger protein 170) (RING type E3 ubiquitin transferase RNF170)
  • Length: 258  
  • Mass: 29815
  • Tissue specificity: Expressed in the spinal chord. {ECO
• Sequence:

  MAKYQGEVQSLKLDDDSVIEGVSDQVLVAVVVSFALIATLVYALFRNVHQNIHPENQELVRVLREQLQTEQDAPA
  ATRQQFYTDMYCPICLHQASFPVETNCGHLFCGACIIAYWRYGSWLGAISCPICRQTVTLLLTVFGEDDQSQDVL
  RLHQDINDYNRRFSGQPRSIMERIMDLPTLLRHAFREMFSVGGLFWMFRIRIILCLMGAFFYLISPLDFVPEALF
  GILGFLDDFFVIFLLLIYISIMYREVITQRLTR

• Structural information:
  • Interpro: IPR010652  IPR038896  IPR018957  IPR001841  IPR013083   IPR017907  
  • Prosite: PS00518 PS50089
  • STRING: ENSP00000445725
• Other Databases: GeneCards:  RNF170  Malacards:  RNF170

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046872	metal ion binding	IEA	molecular function
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Autosomal dominant sensory ataxia	KEGG:H02101
Autosomal dominant sensory ataxia	KEGG:H02101
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)