Property Summary

NCBI Gene PubMed Count 20
PubMed Score 16.97
PubTator Score 17.65

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Synonym

Accession Q8IUD6 A0AVM5 B2R7G9 B6ZLM5 F5GX60 Q9BSE9
Symbols L13
MMFD
REUL
Riplet

Gene

Gene RIF (8)

PMID Text
26368817 Data showed that the presence of the RNF135 K115 variant in the genotype of patients with autism was statistically significant.
23950712 Riplet-mediated K63-linked polyubiquitination released RIG-I RD autorepression, which allowed the access of positive factors to the RIG-I protein.
20546612 Observational study of gene-disease association. (HuGE Navigator)
19484123 REUL is an E3 ubiquitin ligase of RIG-I and specifically stimulates RIG-I-mediated innate antiviral activity
19291764 RNF135 mutations are not present in patients with Sotos syndrome-like features.
19291764 Observational study of gene-disease association. (HuGE Navigator)
19017631 identify an alternative factor, Riplet/RNF135, that promotes RIG-I activation independent of TRIM25
17632510 These data identify RNF135 as causative of a new overgrowth syndrome and demonstrate that RNF135 haploinsufficiency contributes to the phenotype of NF1 microdeletion cases.

AA Sequence

MAGLGLGSAVPVWLAEDDLGCIICQGLLDWPATLPCGHSFCRHCLEALWGARDARRWACPTCRQGAAQQP      1 - 70
HLRKNTLLQDLADKYRRAAREIQAGSDPAHCPCPGSSSLSSAAARPRRRPELQRVAVEKSITEVAQELTE     71 - 140
LVEHLVDIVRSLQNQRPLSESGPDNELSILGKAFSSGVDLSMASPKLVTSDTAAGKIRDILHDLEEIQEK    141 - 210
LQESVTWKEAPEAQMQGELLEAPSSSSCPLPDQSHPALRRASRFAQWAIHPTFNLKSLSCSLEVSKDSRT    211 - 280
VTVSHRPQPYRWSCERFSTSQVLCSQALSSGKHYWEVDTRNCSHWAVGVASWEMSRDQVLGRTMDSCCVE    281 - 350
WKGTSQLSAWHMVKETVLGSDRPGVVGIWLNLEEGKLAFYSVDNQEKLLYECTISASSPLYPAFWLYGLH    351 - 420
PGNYLIIKQVKV                                                              421 - 432
//

Text Mined References (21)

PMID Year Title
26368817 2015 Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism.
25416956 2014 A proteome-scale map of the human interactome network.
23950712 2013 A distinct role of Riplet-mediated K63-Linked polyubiquitination of the RIG-I repressor domain in human antiviral innate immune responses.
20546612 2010 The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
19881509 2009 PCBP2 mediates degradation of the adaptor MAVS via the HECT ubiquitin ligase AIP4.
19484123 2009 REUL is a novel E3 ubiquitin ligase and stimulator of retinoic-acid-inducible gene-I.
19291764 2009 RNF135 mutations are not present in patients with Sotos syndrome-like features.
19017631 2009 Riplet/RNF135, a RING finger protein, ubiquitinates RIG-I to promote interferon-beta induction during the early phase of viral infection.
18391951 2008 Many sequence variants affecting diversity of adult human height.
17632510 2007 Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
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