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FLASH GENE
Symbol RNF135 contributors: mct - updated : 28-11-2014
HGNC name ring finger protein 135
HGNC id 21158
Corresponding disease
NF1DEL neurofibromatosis type 1 (see NF1) caused by microdeletions in 17q11.2
Location 17q11.2      Physical location : 29.297.955 - 29.326.928
Synonym name
  • RIG-I E3 ubiquitin ligase
  • Synonym symbol(s) L13, MGC13061, MMFD, REUL, Riplet
    DNA
    TYPE functioning gene
    STRUCTURE 41.62 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    KIAA1361 17q11.2 serine/threonine protein kinase TAO1 homolog LOC116236 17q11.2 hypothetical protein LOC116236 LOC90313 17q11.2 hypothetical protein BC004507 GIT1 17p11.2 G protein-coupled receptor kinase-interactor 1 FLJ25555 17q11.2 hypothetical protein FLJ25555 FLJ14871 17q11.2 hypothetical protein FLJ14871 SSH2 17q11.2 slingshot 2 FLJ46247 17q11.2 FLJ46247 protein DKFZP434K1421 17q11.2 hypothetical protein DKFZp434K1421 SLC6A4 17q11.2 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 BLMH 17q11.2 bleomycin hydrolase LOC388364 17 similar to AWKS9372 CPD 17q11.2 carboxypeptidase D GOSR1 17q11.2 golgi SNAP receptor complex member 1 LOC390784 17 similar to Arachidonate 12-lipoxygenase, 12S-type (12-LOX) (Platelet-type lipoxygenase 12) LOC388365 17 LOC388365 DKFZP434O047 17q11.2 DKFZP434O047 protein LOC284089 17q11.2 similar to keratin 17 LOC388366 17 LOC388366 DKFZp667M2411 17q11.2 hypothetical protein DKFZp667M2411 LOC388367 17 similar to Joined to JAZF1 CRLF3 17q11.2 cytokine receptor-like factor 3 FLJ12735 17q11.2 cytokine receptor-like factor 3 FLJ22729  hypothetical protein FLJ22729 CENTA2 17q11.2 centaurin, alpha 2 RNF135 17q11.2 ring finger protein 135 NF1 17q11.2 neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) OMG 17q11.2 oligodendrocyte myelin glycoprotein EVI2B 17q11.2 ecotropic viral integration site 2B EVI2A 17q11.2 ecotropic viral integration site 2A AK3P1 17q11.2 adenylate kinase 3 pseudogene 1 RAB11-FIP4  rab11-family interacting protein 4 LOC339281 17q11.2 hypothetical LOC339281 HSA272196 17q11.2 hypothetical protein, clone 2746033 HCA66 17q11.2 hepatocellular carcinoma-associated antigen 66 JJAZ1 17q11.2 hepatocellular carcinoma-associated antigen 66 LOC114659  KIAA0563-related gene LOC390785 17 hypothetical gene supported by NM_019613 ARHT1 17q11.2-q12 ras homolog gene family, member T1 RHBDL4 17q11.2 rhomboid, veinlet-like 4 (Drosophila) NJMU-R1 17q12 protein kinase Njmu-R1 ZNF207 17q11.2 zinc finger protein 207 PSMD11 17q12 proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 CDK5R1 17p11.2-q11 cyclin-dependent kinase 5, regulatory subunit 1 (p35) MYO1D 19p13.3-p13.2 myosin ID
    regionally located in a chromosomal region frequently deleted in patients with neurofibromatosis
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 splicing 2195 47 432 - 2001 1146869
    4 splicing 2032 22 210 - 2001 1146869
  • lacking an exon within the coding region compared to variant 1 which causes a translation frameshift
  • 6 - 2254 - 285 - 2001 1146869
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Endocrineparathyroid   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal RING finger domain,
  • a RING finger domain, involved in protein-protein and protein-DNA interactions
  • a B30.2/SPRY domain at the C terminus, and PRY motifs
  • HOMOLOGY
    interspecies homolog to rattus Rnf135 (63.7 pc)
    homolog to murine Rnf135 (61.2 pc)
    Homologene
    FAMILY
  • zinc finger family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • acting as an ubiquitin ligase
  • RNF135 is a novel factor of the DDX58 pathway involved in the evoking of human innate immunity against RNA virus infection, and activates DDX58 through ubiquitination of its C-terminal region
  • is an E3 ubiquitin ligase of DDX58 and specifically stimulates DDX58-mediated innate antiviral activity.
  • is essential for regulating DDX58-mediated innate immune response against RNA virus infection
  • involvement of RNF135 and ADAP2 in the increased risk of malignancy observed in NF1-microdeleted patients
  • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • interacting with DDX58
  • RNF135 was dispensable for DDX58 RNA binding activity but required for TRIM25 to activate DDX58
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NF1DEL
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in tumor Schwann cells from malignant peripheral nerve sheath tumors (MPNSTs) biopsies and in MPNST cell line
    Susceptibility
    Variant & Polymorphism
    Candidate gene overgrowth
    Marker
    Therapy target
    ANIMAL & CELL MODELS