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RNF111 Gene

protein-coding   GIFtS: 56
GCID: GC15P059160

Ring Finger Protein 111

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ring Finger Protein 1111 2 3
ARK2
Arkadia2
E3 Ubiquitin-Protein Ligase Arkadia2
EC 6.3.2.-3
EC 6.3.28

External Ids:    HGNC: 173841   Entrez Gene: 547782   Ensembl: ENSG000001574507   OMIM: 6058405   UniProtKB: Q6ZNA43   

Export aliases for RNF111 gene to outside databases

Previous GC identifers: GC15P056902 GC15P056995 GC15P057067 GC15P059279 GC15P036102


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RNF111 Gene:
The protein encoded by this gene is a nuclear RING-domain containing E3 ubiquitin ligase. This protein interacts
with the transforming growth factor (TGF) -beta/NODAL signaling pathway by promoting the ubiquitination and
proteosomal degradation of negative regulators, like SMAD proteins, and thereby enhances TGF-beta target-gene
transcription. As a modulator of the nodal signaling cascade, this gene plays a critical role in the induction of
mesoderm during embryonic development. Alternative splicing of this gene results in multiple transcript variants
encoding distinct isoforms. (provided by RefSeq, Jul 2012)

GeneCards Summary for RNF111 Gene:
RNF111 (ring finger protein 111) is a protein-coding gene. GO annotations related to this gene include ubiquitin-protein ligase activity and SUMO polymer binding. An important paralog of this gene is RNF165.

UniProtKB/Swiss-Prot: RN111_HUMAN, Q6ZNA4
Function: Acts in the NODAL pathway of mesoderm patterning during embryonic development. Acts downstream AXIN1 as
an E3 ubiquitin-protein ligase which promotes the ubiquitination of inhibitory SMADs such as SMAD7, induces their
proteasomal degradation and thereby enhances the transcriptional activity of TGF-beta and BMP. Activates
Smad3/Smad4-dependent transcription by triggering signal-induced SnoN degradation

Gene Wiki entry for RNF111 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RNF111 gene promoter:
         LHX3b/Lhx3b   Pbx1a   AP-1   AML1a   p300   AP-4   Evi-1   GATA-1   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRNF111 promoter sequence
   Search Chromatin IP Primers for RNF111

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RNF111


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q21   Ensembl cytogenetic band:  15q22.1   HGNC cytogenetic band: 15q21

RNF111 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNF111 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P059160:  view genomic region     (about GC identifiers)

Start:
59,157,374 bp from pter      End:
59,389,618 bp from pter
Size:
232,245 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RN111_HUMAN, Q6ZNA4 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase Arkadia  
Size: 994 amino acids; 108862 Da
Subunit: Interacts with SMAD6, SMAD7, AXIN1, AXIN2 and SKIL isoform SNON. Part of a complex containing RNF111,
AXIN1 and SMAD7. Interacts (via SIM domains) with SUMO1 and SUMO2
Sequence caution: Sequence=AAH10369.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAC04531.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAD18633.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for RNF111:
2KIZ (3D)    
Secondary accessions: C9JUS4 H0YN55 Q6P9A4 Q6ZMU2 Q7L428 Q7Z346 Q8N1P9 Q8WUA3 Q9NSR1
Alternative splicing: 4 isoforms:  Q6ZNA4-1   Q6ZNA4-2   Q6ZNA4-3   Q6ZNA4-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RNF111: NX_Q6ZNA4

Explore proteomics data for RNF111 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys927
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for RNF111 (Q6ZNA4) (see all 16)
     NEFSHLC  RKRFVKN  PTVVPTTS  PPRLHHLQ 


    See RNF111 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001257457.1  NP_001257458.1  NP_001257459.1  NP_060080.6  

    ENSEMBL proteins: 
     ENSP00000452919   ENSP00000288199   ENSP00000452842   ENSP00000453872   ENSP00000452732  
     ENSP00000453015   ENSP00000453248   ENSP00000393641  
    Reactome Protein details: Q6ZNA4

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RNF: RING-type (C3HC4) zinc fingers

    2 InterPro protein domains:
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q6ZNA4

    ProtoNet protein and cluster: Q6ZNA4

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: RN111_HUMAN, Q6ZNA4
    Similarity: Contains 1 RING-type zinc finger


    Find genes that share domains with RNF111           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RN111_HUMAN, Q6ZNA4
    Function: Acts in the NODAL pathway of mesoderm patterning during embryonic development. Acts downstream AXIN1 as
    an E3 ubiquitin-protein ligase which promotes the ubiquitination of inhibitory SMADs such as SMAD7, induces their
    proteasomal degradation and thereby enhances the transcriptional activity of TGF-beta and BMP. Activates
    Smad3/Smad4-dependent transcription by triggering signal-induced SnoN degradation

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IMP16601693
    GO:0005515protein binding IPI16601693
    GO:0008270zinc ion binding IEA--
    GO:0032184SUMO polymer binding IDA--
    GO:0046332SMAD binding IEA--
         
    Find genes that share ontologies with RNF111           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for RNF111:
     Decreased homologous recombina 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rnf111):
     embryogenesis  mortality/aging  nervous system 

    Find genes that share phenotypes with RNF111           About GenesLikeMe

    Animal Models:
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    Block miRNA regulation of human, mouse, rat RNF111 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RNF111 (see all 45):
    hsa-miR-300 hsa-miR-513a-5p hsa-miR-15a hsa-miR-374c hsa-miR-424 hsa-miR-9 hsa-miR-4274 hsa-miR-489
    SwitchGear 3'UTR luciferase reporter plasmidRNF111 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RN111_HUMAN, Q6ZNA4: Nucleus. Cytoplasm. Note=Upon TGF-beta treatment, translocates from nucleus to cytosol
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0043234protein complex IEA--

    Find genes that share ontologies with RNF111           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for RNF111 About   (see all 6)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Loss of Function of SMAD2/3 in Cancer
    Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer0.72
    TGFBR2 Kinase Domain Mutants in Cancer0.60
    SMAD2/SMAD3-SMAD4 heterotrimer regulates transcription0.72
    Signaling by TGF-beta Receptor Complex0.60
    Loss of Function of SMAD2/3 in Cancer0.60
    TGFBR1 KD Mutants in Cancer0.60
    TGFBR2 MSI Frameshift Mutants in Cancer0.60
    SMAD2/3 MH2 Domain Mutants in Cancer0.60
    2Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84
    3Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    4Signaling by GPCR
    Signal Transduction0.58
    5TGF-beta receptor signaling
    TGF-beta receptor signaling


    Find genes that share SuperPaths with RNF111           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for RNF111
        TGF-beta receptor signaling

    3 Reactome Pathways for RNF111
        Antigen processing: Ubiquitination & Proteasome degradation
    Downregulation of SMAD2/3:SMAD4 transcriptional activity
    SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription


    UniProtKB/Swiss-Prot: RN111_HUMAN, Q6ZNA4
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Array including RNF111: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RNF111

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RNF111 (Q6ZNA41, 2, 3 ENSP000002881994) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AXIN1O151691, 2, 3, ENSP000002623204EBI-2129175,EBI-710484 MINT-1899580 MINT-2778500 I2D: score=4 STRING: ENSP00000262320
    SMURF2Q9HAU42, 3, ENSP000002624354MINT-61802 I2D: score=3 STRING: ENSP00000262435
    SMAD7O151053, ENSP000002621584I2D: score=3 STRING: ENSP00000262158
    UBE2IP632793, ENSP000003248974I2D: score=3 STRING: ENSP00000324897
    SMAD2Q157963, ENSP000002621604I2D: score=2 STRING: ENSP00000262160
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IEA--
    GO:0006351transcription, DNA-templated TAS--
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0007179transforming growth factor beta receptor signaling pathway TAS--
    GO:0007389pattern specification process IEA--

    Find genes that share ontologies with RNF111           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RNF111 (RN111)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RNF111 gene (4 alternative transcripts): 
    NM_001270528.1  NM_001270529.1  NM_001270530.1  NM_017610.7  

    Unigene Cluster for RNF111:

    Ring finger protein 111
    Hs.404423  [show with all ESTs]
    Unigene Representative Sequence: NM_001270528
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000559757 ENST00000348370(uc002afs.3 uc002afu.3) ENST00000559160
    ENST00000559209(uc002afy.3) ENST00000557998 ENST00000561186 ENST00000559592
    ENST00000558977 ENST00000559077 ENST00000560216 ENST00000560952 ENST00000560080
    ENST00000434298(uc002aft.3 uc002afv.3 uc002afw.3 uc002afx.3)

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    hsa-miR-300 hsa-miR-513a-5p hsa-miR-15a hsa-miR-374c hsa-miR-424 hsa-miR-9 hsa-miR-4274 hsa-miR-489
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    Additional mRNA sequence: 

    AK095327.1 AK131304.1 AK131488.1 AL157474.1 AL832089.1 BC010369.1 BC020984.1 BC060862.1 
    BX538130.1 BX647259.1 

    17 DOTS entries:

    DT.87015781  DT.101983175  DT.316690  DT.445565  DT.100771334  DT.102826024  DT.97804066  DT.121067578 
    DT.91744104  DT.100780194  DT.121067580  DT.121067607  DT.405431  DT.92041939  DT.95151936  DT.95178864 
    DT.40266280 

    Selected AceView cDNA sequences (see all 181):

    AA281597 AW022275 BU069560 AK095327 AW630050 BX644476 AW071144 BQ023142 
    AA482018 NM_017610 M78396 AA227819 Z40818 AW514567 BQ880725 BC060862 
    BF593291 AA676618 BM723629 AA732680 AA348141 CA311815 CD679201 AA676327 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RNF111 (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16a · 16b
    SP1:              -     -                                                           -           -                       -                           
    SP2:              -     -                                                                       -                       -                           
    SP3:                    -                                                           -           -                                                   
    SP4:              -     -                                                           -           -                       -                           
    SP5:                                                                                            -                                                   


    ECgene alternative splicing isoforms for RNF111

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RNF111 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATCATATGT
    RNF111 Expression
    About this image

    RNF111 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RNF111 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.404423

    UniProtKB/Swiss-Prot: RN111_HUMAN, Q6ZNA4
    Tissue specificity: Broadly expressed

        Pathway & Disease-focused RT2 Profiler PCR Array including RNF111: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF111

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for RNF111 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rnf1111 , 5 ring finger 1111, 5 88.74(n)1
    91(a)1
      9 (39.53 cM)5
    938361  NM_033604.21  NP_291082.11 
     704254295 
    chicken
    (Gallus gallus)
    Aves RNF1111 ring finger protein 111 82.48(n)
    87.78(a)
      374021  NM_001199751.1  NP_001186680.1 
    lizard
    (Anolis carolinensis)
    Reptilia RNF1116
    ring finger protein 111
    77(a)
    1 ↔ 1
    GL343573.1(166562-172278)
    African clawed frog
    (Xenopus laevis)
    Amphibia arkadia2 ring finger-H2 protein 78.07(n)    AF329847.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rnf1111 ring finger protein 111 61.14(n)
    62.28(a)
      100151141  XM_001922673.4  XP_001922708.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG69236
    --
    9(a)
    1 → many
    3R(7570205-7575751)
    worm
    (Caenorhabditis elegans)
    Secernentea toe-46
    Protein TOE-4 (toe-4) mRNA, complete cds
    18(a)
    1 → many
    I(12738087-12741149) WBGene00012194


    ENSEMBL Gene Tree for RNF111 (if available)
    TreeFam Gene Tree for RNF111 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RNF111 gene
    RNF1652  
    2 SIMAP similar genes for RNF111 using alignment to 5 protein entries:     RN111_HUMAN (see all proteins):
    LOC284996    RNF165

    Find genes that share paralogs with RNF111           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RNF111 (see all 2443)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs569593471,2
    C--39432604(+) AAAAA-/AAGACCA 4 -- int11Minor allele frequency- AA:0.00NA 2
    rs1824757281,2
    C--59278061(+) CGGAAA/GAGGAA 3 -- us2k10--------
    rs1146088121,2
    C,F--59278334(+) AGTTTT/CCCCAC 3 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1880482831,2
    --59278541(+) CCTCCC/GGAGTA 4 -- us2k10--------
    rs1926771791,2
    C--59278565(+) GCGCCC/TGCCAC 4 -- us2k10--------
    rs1840212771,2
    C--59278696(+) CAGGCA/GTGAGC 4 -- us2k10--------
    rs344327741,2
    C--59278715(+) CAGCC-/TTTTTT 4 -- us2k10--------
    rs354988171,2
    C--59278899(+) AGTGG-/AGAAGGAG 4 -- us2k11Minor allele frequency- AGA:0.50CSA 2
    rs680176951,2
    C--59278901(+) TGGAGAAG/-GAGTT 4 -- us2k11Minor allele frequency- -:0.50NA 2
    rs1444166741,2
    C--59278994(+) CAGGCA/GTGAGC 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for RNF111 (59157374 - 59389618 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for RNF111:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv510663CNV Loss20534489
    esv34110CNV Loss18971310
    nsv819459CNV Loss19587683
    nsv904271CNV Loss21882294
    nsv904254CNV Gain21882294
    nsv520769CNV Gain19592680
    nsv527307CNV Gain19592680
    nsv833025CNV Gain17160897
    dgv151n21CNV Gain19592680
    nsv7266OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RNF111
    DNA2.0 Custom Variant and Variant Library Synthesis for RNF111

    (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.)
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    OMIM gene information: 605840    OMIM disorders: --


    Find genes that share disorders with RNF111           About GenesLikeMe

    Genetic Association Database (GAD): RNF111

    Export disorders for RNF111 gene to outside databases

    (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)
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    PubMed articles for RNF111 gene, integrated from 10 sources (see all 47):
    (articles sorted by number of sources associating them with RNF111)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PolySUMO-binding proteins identified through a string search. (PubMed id 23086935)1, 2 Sun H. and Hunter T. (J. Biol. Chem. 2012)
    2. Arkadia activates Smad3/Smad4-dependent transcription by triggering signal-induced SnoN degradation. (PubMed id 17591695)1, 2 Levy L.... Hill C.S. (Mol. Cell. Biol. 2007)
    3. Axin is a scaffold protein in TGF-beta signaling that promotes degradation of Smad7 by Arkadia. (PubMed id 16601693)1, 2 Liu W.... Lin S.-C. (EMBO J. 2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. 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. (Genome Res. 2004)
    6. Arkadia amplifies TGF-beta superfamily signaling through degradation of Smad7. (PubMed id 14657019)1, 2 Koinuma D.... Miyazono K. (EMBO J. 2003)
    7. Induction of the mammalian node requires Arkadia function in the extraembryonic lineages. (PubMed id 11298452)1, 3 Episkopou V....Swan D. (Nature 2001)
    8. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    9. RNF111/Arkadia is a SUMO-targeted ubiquitin ligase that facilitates the DNA damage response. (PubMed id 23751493)1 Poulsen S.L....Mailand N. (J. Cell Biol. 2013)
    10. Arkadia, a novel SUMO-targeted ubiquitin ligase involved in PML degradation. (PubMed id 23530056)1 Erker Y....Levy L. (Mol. Cell. Biol. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54778 HGNC: 17384 AceView: RNF111 Ensembl:ENSG00000157450 euGenes: HUgn54778
    ECgene: RNF111 H-InvDB: RNF111

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for RNF111 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RNF111 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RNF111 gene:
    Search GeneIP for patents involving RNF111

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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