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Aliases for RNF135 Gene

Aliases for RNF135 Gene

  • Ring Finger Protein 135 2 3
  • Riplet 2 3 4
  • RING-Type E3 Ubiquitin Transferase RNF135 3 4
  • RIG-I E3 Ubiquitin Ligase 3 4
  • RING Finger Protein 135 4 5
  • REUL 3 4
  • E3 Ubiquitin-Protein Ligase RNF135 3
  • 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 Macrocephaly, Macrosomia, And Facial Dysmorphism Syndrome and Myopathy Of Extraocular Muscle. Among its related pathways are Metabolism of proteins and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ligase activity and ribonucleoprotein complex binding.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for RNF135 Gene

Genomics for RNF135 Gene

GeneHancer (GH) Regulatory Elements for RNF135 Gene

Promoters and enhancers for RNF135 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I030968 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 557.2 +11.6 11568 4.8 HDGF FOXA2 SIN3A YY1 ZNF207 ZNF143 ATF7 RUNX3 SP3 RXRA ENSG00000264456 RNF135 PIR39220 LRRC37BP1 SUZ12 UTP6 ATAD5 GOSR1 ENSG00000265791 SMURF2P1
GH17I030956 Enhancer 1 Ensembl ENCODE dbSUPER 558.3 -1.4 -1420 3 HDAC1 TEAD1 TEAD4 NRF1 TEAD2 CEBPB CBFA2T3 CEBPG NR2F2 TEAD3 RNF135 ENSG00000230113 ENSG00000264456 LRRC37BP1 ADAP2
GH17I030959 Enhancer 0.4 Ensembl dbSUPER 558.5 +1.0 980 0.2 RNF135 RN7SL138P ENSG00000264456 ENSG00000265743
GH17I030961 Enhancer 0.4 ENCODE dbSUPER 550.8 +0.8 797 0.2 RNF135 RN7SL138P ENSG00000265743
GH17I031093 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 25.2 +136.4 136393 2.8 SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF213 FOS LOC105371722 MIR4733 NF1 ENSG00000264456 RNF135 SUZ12 UTP6 SH3GL1P2 SH3GL1P1 ATAD5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RNF135 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RNF135 gene promoter:

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)

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 StructureGene Density

RefSeq DNA sequence for RNF135 Gene

Proteins for RNF135 Gene

  • 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

Post-translational modifications for RNF135 Gene

No Post-translational modifications

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

Graphical View of Domain Structure for InterPro Entry

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

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

Function for RNF135 Gene

Molecular function for RNF135 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
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.
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.

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,EXP 19484123
GO:0005515 protein binding IPI 19017631
GO:0016740 transferase activity IEA --
GO:0042802 identical protein binding IPI 25416956
GO:0043021 ribonucleoprotein complex binding 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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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 5
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RNF135 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 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:0016579 protein deubiquitination TAS --
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 --
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

No Compound Related Data Available

Transcripts for RNF135 Gene

Unigene Clusters for RNF135 Gene

Ring finger protein 135:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, 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
Organs:
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

Primer Products

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 34
  • 98.92 (n)
dog
(Canis familiaris)
Mammalia RNF135 33 34
  • 81.54 (n)
cow
(Bos Taurus)
Mammalia RNF135 33 34
  • 77.75 (n)
rat
(Rattus norvegicus)
Mammalia Rnf135 33
  • 74.15 (n)
mouse
(Mus musculus)
Mammalia Rnf135 33 16 34
  • 72.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNF135 34
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RNF135 34
  • 38 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii AL954746.1 34
  • 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)

Paralogs for RNF135 Gene

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

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

No data available for Paralogs for RNF135 Gene

Variants for RNF135 Gene

Sequence variations from dbSNP and Humsavar for RNF135 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs121918161 pathogenic, Macrocephaly, macrosomia, facial dysmorphism syndrome 30,997,289(+) C/T coding_sequence_variant, stop_gained, synonymous_variant
rs121918162 pathogenic, Macrocephaly, macrosomia, facial dysmorphism syndrome, Macrocephaly, macrosomia, facial dysmorphism syndrome (MMFD) [MIM:614192] 30,998,749(+) G/A 3_prime_UTR_variant, coding_sequence_variant, missense_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
rs724159977 pathogenic, Macrocephaly, macrosomia, facial dysmorphism syndrome 30,997,304(+) C/ coding_sequence_variant, frameshift
rs724159978 pathogenic, Macrocephaly, macrosomia, facial dysmorphism syndrome 30,998,906(+) GG/G 3_prime_UTR_variant, coding_sequence_variant, frameshift

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

(4) MalaCards diseases for RNF135 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and DISEASES

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

UniProtKB/Swiss-Prot

RN135_HUMAN
  • Macrocephaly, macrosomia, facial dysmorphism syndrome (MMFD) [MIM:614192]: An autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction. {ECO:0000269 PubMed:17632510}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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 Genatlas for RNF135 Gene

Publications for RNF135 Gene

  1. 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 58
  2. 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 44 58
  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 44 58
  4. 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 58
  5. PCBP2 mediates degradation of the adaptor MAVS via the HECT ubiquitin ligase AIP4. (PMID: 19881509) You F … Jiang Z (Nature immunology 2009) 3 4 58

Products for RNF135 Gene

Sources for RNF135 Gene

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