• Gene id: 84282

Gene Summary

• Gene Symbol: RNF135   Gene   UCSC   Ensembl
• Aliases: L13, MMFD, REUL, Riplet
• Gene name: ring finger protein 135
• Alternate names: E3 ubiquitin-protein ligase RNF135, RIG-I E3 ubiquitin ligase, RING finger protein leading to RIG-I activation, RING-type E3 ubiquitin transferase RNF135,
• Gene location: 17q11.2 (30968641: 30999910)     Exons: 8     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to
• OMIM: 611358

Protein Summary

• Protein general information: Q8IUD6  
  • Name: E3 ubiquitin protein ligase RNF135 (EC 2.3.2.27) (RIG I E3 ubiquitin ligase) (REUL) (RING finger protein 135) (RING finger protein leading to RIG I activation) (Riplet) (RING type E3 ubiquitin transferase RNF135)
  • Length: 432  
  • Mass: 47888
  • Tissue specificity: Expressed in skeletal muscle, spleen, kidney, placenta, prostate, stomach, thyroid and tongue. Also weakly expressed in heart, thymus, liver and lung. {ECO
• Sequence:

  MAGLGLGSAVPVWLAEDDLGCIICQGLLDWPATLPCGHSFCRHCLEALWGARDARRWACPTCRQGAAQQPHLRKN
  TLLQDLADKYRRAAREIQAGSDPAHCPCPGSSSLSSAAARPRRRPELQRVAVEKSITEVAQELTELVEHLVDIVR
  SLQNQRPLSESGPDNELSILGKAFSSGVDLSMASPKLVTSDTAAGKIRDILHDLEEIQEKLQESVTWKEAPEAQM
  QGELLEAPSSSSCPLPDQSHPALRRASRFAQWAIHPTFNLKSLSCSLEVSKDSRTVTVSHRPQPYRWSCERFSTS
  QVLCSQALSSGKHYWEVDTRNCSHWAVGVASWEMSRDQVLGRTMDSCCVEWKGTSQLSAWHMVKETVLGSDRPGV
  VGIWLNLEEGKLAFYSVDNQEKLLYECTISASSPLYPAFWLYGLHPGNYLIIKQVKV

• Structural information:
  • Protein Domains: (241..43-)
    (/note="B30.2/SPRY-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00548"-)
  • Interpro: IPR001870  IPR003879  IPR013320  IPR006574  IPR042723   IPR003877  IPR001841  IPR013083  IPR017907  
  • Prosite: PS50188 PS00518 PS50089
  • CDD: cd12902
  • STRING: ENSP00000328340
• Other Databases: GeneCards:  RNF135  Malacards:  RNF135

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004842	ubiquitin-protein transferase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0043021	ribonucleoprotein complex binding	IBA	molecular function
GO:0045088	regulation of innate immune response	IBA	biological process
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0070534	protein K63-linked ubiquitination	IDA	biological process
GO:0010494	cytoplasmic stress granule	IDA	cellular component
GO:0039529	RIG-I signaling pathway	IDA	biological process
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:1990904	ribonucleoprotein complex	IDA	cellular component
GO:0016567	protein ubiquitination	IDA	biological process
GO:0016567	protein ubiquitination	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0010994	free ubiquitin chain polymerization	IDA	biological process
GO:0043021	ribonucleoprotein complex binding	IDA	molecular function
GO:0051260	protein homooligomerization	IDA	biological process
GO:0039529	RIG-I signaling pathway	IMP	biological process
GO:0039529	RIG-I signaling pathway	IMP	biological process
GO:0045088	regulation of innate immune response	IMP	biological process
GO:0043021	ribonucleoprotein complex binding	IPI	molecular function
GO:0032728	positive regulation of interferon-beta production	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0039552	RIG-I binding	IPI	molecular function
GO:0039552	RIG-I binding	IPI	molecular function
GO:0140374	antiviral innate immune response	IMP	biological process
GO:0140374	antiviral innate immune response	IMP	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0032480	negative regulation of type I interferon production	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0045087	innate immune response	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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:0005515	protein binding	IPI	molecular function
GO:0010494	cytoplasmic stress granule	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Macrocephaly macrosomia facial dysmorphism syndrome	KEGG:H01308
Macrocephaly macrosomia facial dysmorphism syndrome	KEGG:H01308
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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881