RNF135 Gene
protein-coding GIFtS: 56
GCID: GC17P029297
|
|
ring finger protein 135
| |
Aliases
for RNF135 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Ring Finger Protein 1351 2 3 | | MGC130611 | | REUL2 3 | | MMFD2 | | Riplet2 3 | | E3 Ubiquitin-Protein Ligase RNF1352 | | RIG-I E3 Ubiquitin Ligase2 3 | | EC 6.3.2.-3 |
Export aliases for RNF135 gene to outside databasesPrevious GC identifers: GC17P029147 GC17P029443 GC17P026322 GC17P025508 |
Summaries
for RNF135 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for RNF135:
The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinctproteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in achromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcriptvariants encoding distinct isoforms have been reported. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: RN135_HUMAN, Q8IUD6Function: 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
|
Genomic Views
for RNF135 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010799.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the RNF135 gene promoter:
NF-1 NF-1/L
Other transcription factors
Search SABiosciences Chromatin IP Primers for RNF135
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RNF135 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q11.2 Ensembl cytogenetic band: 17q11.2 HGNC cytogenetic band: 17q11.2RNF135 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17P029297: view genomic region
(about GC identifiers)
Start:
|
29,295,803 bp from pter |
End:
|
29,326,929 bp from pter |
Size:
|
31,127 bases |
Orientation:
|
plus strand |
|
Proteins
for RNF135 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: RN135_HUMAN, Q8IUD6 (See
protein sequence)Recommended Name: E3 ubiquitin-protein ligase RNF135 Size: 432 amino acids; 47888 Da
Subunit: Interacts with DDX58. Interacts with PCBP2
Subcellular location: Cytoplasm
Secondary accessions: A0AVM5 B2R7G9 B6ZLM5 F5GX60 Q9BSE9Alternative splicing: 3 isoforms: Q8IUD6-1 Q8IUD6-2 Q8IUD6-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for RNF135: NX_Q8IUD6
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8IUD6
RNF135 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001171921.1 NP_115698.3 NP_922921.1
ENSEMBL proteins: ENSP00000328340 ENSP00000411965 ENSP00000323693 ENSP00000440470 ENSP00000464549 ENSP00000467799 Reactome Protein details: Q8IUD6
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
RNF135 for ontologies About GeneDecksing
RNF135 Antibody Products:
Assay Products for RNF135: |
Protein
Domains /
Families
for RNF135 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RNF135 for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry Q8IUD6ProtoNet protein and cluster: Q8IUD6 3 Blocks protein families: IPB001841 Zn-finger IPB003879 Butyrophylin C-terminal DUF signature IPB006574 SPRY-associated domain
UniProtKB/Swiss-Prot: RN135_HUMAN, Q8IUD6Similarity: Contains 1 B30.2/SPRY domainSimilarity: Contains 1 RING-type zinc finger |
Function
for RNF135 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: RN135_HUMAN, Q8IUD6Function: 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 productionEnzyme Number (IUBMB): EC 6.3.2.-1
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RNF135 (see all 3)
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Synthesis Service for RNF135 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RNF135 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF135 |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
RNF135 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for RNF135:
|
Pathways & Interactions
for RNF135 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Immune System | | | 2 | RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways | | | 3 | Negative regulation of RIG-I/MDA5 signaling by TRIAD3A | | | 4 | RIP-mediated NFkB activation via DAI | | | 5 | Regulation of IFNA signaling | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/10 
Reactome Pathways for RNF135 (see all 10)
UniProtKB/Swiss-Prot: RN135_HUMAN, Q8IUD6Pathway: Protein modification; protein ubiquitination
RNF135 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RNF135
STRING Interaction
Network Preview (showing 5 interactants - click image to see 10)
5/11 Interacting proteins for RNF135 (Q8IUD63 ENSP000003283404) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
About this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table
RNF135 for ontologies About GeneDecksing
|
Drugs & Compounds
for RNF135 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for RNF135
Search CenterWatch for drugs/clinical trials and news about RNF135 / RN135
|
Transcripts
for RNF135 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for RNF135 gene (3 alternative transcripts): NM_001184992.1 NM_032322.3 NM_197939.1 Unigene Cluster for RNF135: Ring finger protein 135 Hs.29874 [show with all ESTs]Unigene Representative Sequence: NM_0011849927 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000582674 ENST00000328381(uc010csm.3 uc002hfz.3 uc002hga.3 uc002hgb.3)
ENST00000443677 ENST00000324689 ENST00000535306 ENST00000580444 ENST00000434242
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RNF135 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RNF135 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): RNF135 (NM_197939) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RNF135 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RNF135 |
Additional cDNA sequence: AB470605.1 AJ496729.1 AK122646.1 AK122709.1 AK123549.1 AK226030.1 AK312979.1 AY598332.1 BC005084.1 BC082262.1 BC126420.1 BC126422.1 BC144143.1 12 DOTS entries: DT.95158248 DT.99933218 DT.97818506 DT.91680698 DT.120972995 DT.97858386 DT.120972848 DT.101975503 DT.91748333 DT.95079728 DT.99955097 DT.100718079 24/107 AceView cDNA sequences (see all 107): BE893836 BC005084 AK122709 BE858430 BQ008551 AI342639 AK123549 CA306396 AA649978 AK122646 CA748857 BU608620 AI609800 BQ007774 BE858714 AI624720 AW083553 BE858801 AW769813 AI004323 CB159108 AA688090 CD518654 AI366045
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for RNF135 (see all 6) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | - | | | | | | | | | | |
| SP3: | | | | | | | | | | | - | | | | - | | | | | | | | | | |
| SP4: | | | | | | | | | | | - | | - | | - | | | | | | | | | | |
| SP5: | | | | | | | | | - | | - | | - | | - | | | | | | | | | |
ECgene alternative splicing isoforms for RNF135
|
Expression
for RNF135 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| RNF135 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGTGAGCTAC
About this image
See RNF135 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RNF135
SOURCE GeneReport for Unigene cluster: Hs.29874
UniProtKB/Swiss-Prot: RN135_HUMAN, Q8IUD6Tissue specificity: Expressed in skeletal muscle, spleen, kidney, placenta, prostate, stomach, thyroid and tongue. Alsoweakly expressed in heart, thymus, liver and lung
SABiosciences Expression via Pathway-Focused PCR Arrays including RNF135:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RNF135
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF135 |
Orthologs
for RNF135 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for RNF135 gene from 3/8 species (see all 8) About this table
ENSEMBL Gene Tree for RNF135 (if available)
TreeFam Gene Tree for RNF135 (if available) |
Paralogs
for RNF135 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for RNF135 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for RNF135 (29295803 - 29326929 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for RNF135
1 CNV: 67172
Human Gene Mutation Database (HGMD): RNF135
Locus Specific Mutation Databases (LSDB): RNF135
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RNF135 |
|
Disorders
/ Diseases
for RNF135 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
RNF135 for disorders About GeneDecksing
OMIM gene information: 611358
OMIM disorders: --
UniProtKB/Swiss-Prot: RN135_HUMAN, Q8IUD6
Defects in RNF135 are the cause of macrocephaly macrosomia facial dysmorphism syndrome (MMFD) [MIM:614192].MMFD is an autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressivesensorineural hearing loss without renal dysfunction
6  diseases for RNF135: About MalaCardsneurofibromatosis sotos syndrome overgrowth syndrome lung cancer
thyroiditis prostatitis
1 disease from the University of Copenhagen DISEASES database for RNF135:Sotos syndrome Human Genome Epidemiology (HuGE) Navigator: RNF135 (2 documents)
Export disorders for RNF135 gene to outside databases
|
Publications
for RNF135 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for RNF135 gene, integrated from 9 sources (see all 18):
(articles sorted by number of sources associating them with RNF135) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Riplet/RNF135, a RING Finger Protein, Ubiquitinates RIG-I to Promote Interferon-{beta} Induction during the Early Phase of Viral Infection. (PubMed id 19017631)1, 2, 3 Oshiumi H....Seya T. (2009)
- RNF135 mutations are not present in patients with Sotos syndrome-like features. (PubMed id 19291764)1, 2 Visser R....Losekoot M. (2009)
- REUL is a novel E3 ubiquitin ligase and stimulator of retinoic-acid-inducible gene-I. (PubMed id 19484123)1, 2 Gao D....Chen D.Y. (2009)
- PCBP2 mediates degradation of the adaptor MAVS via th e HECT ubiquitin ligase AIP4. (PubMed id 19881509)1, 2 You F....Jiang Z. (2009)
- Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. (PubMed id 17632510)1, 2 Douglas J.... Rahman N. (2007)
- Suppression subtractive hybridization and expression profiling identifies a unique set of genes overexpressed in non-small-cell lung cancer. (PubMed id 15334068)1, 2 Petroziello J.... Carter P. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse. (PubMed id 12696059)1, 2 Jenne D.E....Kehrer-Sawatzki H. (2003)
- Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. (PubMed id 11468690)1, 3 Jenne D.E....Kehrer-Sawatzki H. (2001)
|
External Searches for RNF135 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing RNF135 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing RNF135 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RNF135 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for RNF135 gene:
Search GeneIP for patents involving RNF135
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for RNF135 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF135 |
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