RNF135 Gene (Protein Coding)

Ring Finger Protein 135

GC17P030958
GIFtS:
41
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 be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoform... See more...

Aliases for RNF135 Gene

Aliases for RNF135 Gene

  • Ring Finger Protein 135 2 3 5
  • Riplet 2 3 4
  • RING-Type E3 Ubiquitin Transferase RNF135 3 4
  • E3 Ubiquitin-Protein Ligase RNF135 3 4
  • RIG-I E3 Ubiquitin Ligase 3 4
  • REUL 3 4
  • RING Finger Protein 135 4
  • EC 2.3.2.27 4
  • MMFD 3
  • L13 3

External Ids for RNF135 Gene

Previous GeneCards Identifiers for RNF135 Gene

  • GC17P029147
  • GC17P029443
  • GC17P026322
  • GC17P029297
  • GC17P025508

Summaries for RNF135 Gene

Entrez Gene Summary for RNF135 Gene

  • 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 be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

GeneCards Summary for RNF135 Gene

RNF135 (Ring Finger Protein 135) is a Protein Coding gene. Diseases associated with RNF135 include Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome and Autism Spectrum Disorder. Among its related pathways are Ovarian tumor domain proteases and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ligase activity and ribonucleoprotein complex binding. An important paralog of this gene is RFPL4A.

UniProtKB/Swiss-Prot Summary for RNF135 Gene

  • Acts as an E2-dependent E3 ubiquitin-protein ligase, involved in innate immune defense against viruses. Ubiquitinates DDX58 and is required for full activation of the DDX58 signaling resulting in interferon beta production.

Gene Wiki entry for RNF135 Gene

Additional gene information for RNF135 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RNF135 Gene

Genomics for RNF135 Gene

GeneHancer (GH) Regulatory Elements for RNF135 Gene

Promoters and enhancers for RNF135 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RNF135 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RNF135 gene promoter:
  • NF-1
  • NF-1/L

Genomic Locations for RNF135 Gene

Genomic Locations for RNF135 Gene
chr17:30,958,921-30,999,911
(GRCh38/hg38)
Size:
40,991 bases
Orientation:
Plus strand
chr17:29,295,803-29,326,929
(GRCh37/hg19)
Size:
31,127 bases
Orientation:
Plus strand

Genomic View for RNF135 Gene

Genes around RNF135 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF135 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF135 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RNF135 Gene

Proteins for RNF135 Gene

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  • Protein details for RNF135 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUD6-RN135_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNF135
    Protein Accession:
    Q8IUD6
    Secondary Accessions:
    • A0AVM5
    • B2R7G9
    • B6ZLM5
    • F5GX60
    • Q9BSE9

    Protein attributes for RNF135 Gene

    Size:
    432 amino acids
    Molecular mass:
    47888 Da
    Quaternary structure:
    • Interacts with DDX58. Interacts with PCBP2.

    Alternative splice isoforms for RNF135 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNF135 Gene

Protein Expression for RNF135 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RNF135 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RNF135 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RNF135 Gene

Domains & Families for RNF135 Gene

Gene Families for RNF135 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for RNF135 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RNF135 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ93440 (B2R7G9_HUMAN)
  • cDNA FLJ16196 fis, clone COLON2006417, highly similar to Homo sapiens ring finger protein 135 (RNF135), transcript variant 1, mRNA (B3KV69_HUMAN)
  • Riplet (B6ZLM5_HUMAN)
  • Riplet (RN135_HUMAN)
genes like me logo Genes that share domains with RNF135: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RNF135 Gene

Function for RNF135 Gene

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Molecular function for RNF135 Gene

UniProtKB/Swiss-Prot Function:
Acts as an E2-dependent E3 ubiquitin-protein ligase, involved in innate immune defense against viruses. Ubiquitinates DDX58 and is required for full activation of the DDX58 signaling resulting in interferon beta production.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27;.

Enzyme Numbers (IUBMB) for RNF135 Gene

Phenotypes From GWAS Catalog for RNF135 Gene

Gene Ontology (GO) - Molecular Function for RNF135 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA,IBA 19484123
GO:0005515 protein binding IPI 19017631
GO:0016740 transferase activity IEA --
GO:0042802 identical protein binding IPI 25416956
GO:0043021 ribonucleoprotein complex binding IBA,IPI 19881509
genes like me logo Genes that share ontologies with RNF135: view
genes like me logo Genes that share phenotypes with RNF135: view

Human Phenotype Ontology for RNF135 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

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No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for RNF135 Gene

Localization for RNF135 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF135 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNF135 gene
Compartment Confidence
cytosol 4
nucleus 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RNF135 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IBA 19484123
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RNF135: view

Pathways & Interactions for RNF135 Gene

genes like me logo Genes that share pathways with RNF135: view

UniProtKB/Swiss-Prot Q8IUD6-RN135_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF135 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0032480 negative regulation of type I interferon production TAS --
GO:0032728 positive regulation of interferon-beta production IMP 19017631
GO:0045087 innate immune response TAS --
GO:0045088 regulation of innate immune response IMP 19017631
genes like me logo Genes that share ontologies with RNF135: view

No data available for SIGNOR curated interactions for RNF135 Gene

Drugs & Compounds for RNF135 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for RNF135 Gene

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mRNA/cDNA for RNF135 Gene

(3) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(107) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF135

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNF135 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1:
SP2: -
SP3: - -
SP4: - - -
SP5: - - - -
SP6: -

Relevant External Links for RNF135 Gene

GeneLoc Exon Structure for
RNF135
ECgene alternative splicing isoforms for
RNF135

Expression for RNF135 Gene

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  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RNF135 Gene

mRNA expression in normal human tissues for RNF135 Gene
mRNA expression by BioGPS for RNF135 GenemRNA expression by GTEx for RNF135 Gene

mRNA differential expression in normal tissues according to GTEx for RNF135 Gene

This gene is overexpressed in Whole Blood (x5.0).

Protein differential expression in normal tissues from HIPED for RNF135 Gene

This gene is overexpressed in Testis (19.2), Urinary Bladder (17.6), Rectum (16.7), and Monocytes (12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RNF135 Gene



NURSA nuclear receptor signaling pathways regulating expression of RNF135 Gene:

RNF135

SOURCE GeneReport for Unigene cluster for RNF135 Gene:

Hs.29874

mRNA Expression by UniProt/SwissProt for RNF135 Gene:

Q8IUD6-RN135_HUMAN
Tissue specificity: Expressed in skeletal muscle, spleen, kidney, placenta, prostate, stomach, thyroid and tongue. Also weakly expressed in heart, thymus, liver and lung.

Evidence on tissue expression from TISSUES for RNF135 Gene

  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF135 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • nose
  • skull
General:
  • skin
genes like me logo Genes that share expression patterns with RNF135: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for RNF135 Gene

Orthologs for RNF135 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RNF135 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia RNF135 33 32
  • 98.92 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia RNF135 33 32
  • 81.54 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia RNF135 33 32
  • 77.75 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Rnf135 32
  • 74.15 (n)
mouse
(Mus musculus)
 Mammalia Rnf135 17 33 32
  • 72.98 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia RNF135 33
  • 38 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia RNF135 33
  • 38 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii AL954746.1 33
  • 26 (a)
 OneToOne
Species where no ortholog for RNF135 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RNF135 Gene

ENSEMBL:
Gene Tree for RNF135 (if available)
TreeFam:
Gene Tree for RNF135 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RNF135: view image

Paralogs for RNF135 Gene

Paralogs for RNF135 Gene

(4) SIMAP similar genes for RNF135 Gene using alignment to 4 proteins:

  • RN135_HUMAN
  • H7C3H8_HUMAN
  • J3QS68_HUMAN
  • K7EQF1_HUMAN
genes like me logo Genes that share paralogs with RNF135: view

Variants for RNF135 Gene

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Sequence variations from dbSNP and Humsavar for RNF135 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs111902263 benign-likely-benign, not specified, - 30,971,417(+) G/A 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs121918161 uncertain-significance, Macrocephaly, macrosomia, facial dysmorphism syndrome 30,997,289(+) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained, synonymous_variant
rs121918162 uncertain-significance, Macrocephaly, macrosomia, facial dysmorphism syndrome, - 30,998,749(+) G/A 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs368080023 likely-benign, not specified, not provided 30,971,372(+) A/C/G 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs61749868 likely-benign, not specified, - 30,999,137(+) G/A/T 3_prime_UTR_variant, coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for RNF135 Gene

Variant ID Type Subtype PubMed ID
esv24402 CNV loss 19812545
esv2715813 CNV deletion 23290073
nsv457720 CNV loss 19166990
nsv833412 CNV loss 17160897

Variation tolerance for RNF135 Gene

Residual Variation Intolerance Score: 57.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.06; 84.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RNF135 Gene

Human Gene Mutation Database (HGMD)
RNF135
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF135

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF135 Gene

Disorders for RNF135 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RNF135 Gene - From: HGMD, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
overgrowth-macrocephaly-facial dysmorphism syndrome
autism spectrum disorder
  • asd
chromosome 17q11.2 deletion syndrome, 1.4-mb
  • neurofibromatosis 1 microdeletion syndrome
myopathy of extraocular muscle
  • myopathy of extraocular muscles
sotos syndrome 1
  • sotos1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RNF135

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RNF135: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RNF135 Gene

Publications for RNF135 Gene

  1. RNF135 mutations are not present in patients with Sotos syndrome-like features. (PMID: 19291764) Visser R … Losekoot M (American journal of medical genetics. Part A 2009) 3 4 43 56
  2. Riplet/RNF135, a RING finger protein, ubiquitinates RIG-I to promote interferon-beta induction during the early phase of viral infection. (PMID: 19017631) Oshiumi H … Seya T (The Journal of biological chemistry 2009) 2 3 4 56
  3. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 43 56
  4. PCBP2 mediates degradation of the adaptor MAVS via the HECT ubiquitin ligase AIP4. (PMID: 19881509) You F … Jiang Z (Nature immunology 2009) 3 4 56
  5. REUL is a novel E3 ubiquitin ligase and stimulator of retinoic-acid-inducible gene-I. (PMID: 19484123) Gao D … Chen DY (PloS one 2009) 3 4 56

ExternalLinks

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