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RNF217 Gene

protein-coding   GIFtS: 48
GCID: GC06P125347

Ring Finger Protein 217

(Previous names: chromosome 6 open reading frame 172, IBR domain containing...)
(Previous symbols: C6orf172, IBRDC1)
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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 2171 2 3     dJ84N20.12
C6orf1721 2 3     Probable E3 Ubiquitin-Protein Ligase RNF2172
IBRDC11 2 3     EC 6.3.2.-3
IBR Domain Containing 11 2     IBR Domain-Containing Protein 13
Chromosome 6 Open Reading Frame 1721     

External Ids:    HGNC: 214871   Entrez Gene: 1542142   Ensembl: ENSG000001463737   UniProtKB: Q8TC413   

Export aliases for RNF217 gene to outside databases

Previous GC identifer: GC06P122881


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RNF217 Gene:
RNF217 (ring finger protein 217) is a protein-coding gene. GO annotations related to this gene include ubiquitin-protein ligase activity.

UniProtKB/Swiss-Prot: RN217_HUMAN, Q8TC41
Function: E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes in the form of
a thioester and then directly transfers the ubiquitin to targeted substrates (By similarity)




(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_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RNF217 gene promoter:
         STAT5B   Sox5   STAT1   STAT4   STAT1beta   STAT6   STAT5A   STAT1alpha   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRNF217 promoter sequence
   Search Chromatin IP Primers for RNF217

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RNF217


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

Entrez Gene cytogenetic band: 6q22.31   Ensembl cytogenetic band:  6q22.31   HGNC cytogenetic band: 6q22.33

RNF217 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNF217 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P125347:  view genomic region     (about GC identifiers)

Start:
125,283,691 bp from pter      End:
125,413,779 bp from pter
Size:
130,089 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RN217_HUMAN, Q8TC41 (See protein sequence)
Recommended Name: Probable E3 ubiquitin-protein ligase RNF217  
Size: 275 amino acids; 31981 Da
Secondary accessions: Q5TCA4 Q9BX48

Explore the universe of human proteins at neXtProt for RNF217: NX_Q8TC41

Explore proteomics data for RNF217 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys183
  • Modification sites at PhosphoSitePlus

  • See RNF217 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001273327.1  NP_689766.1  

    ENSEMBL proteins: 
     ENSP00000428698   ENSP00000429012   ENSP00000427711   ENSP00000357399   ENSP00000352734  
     ENSP00000404282   ENSP00000452812   ENSP00000275184  

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    antibodies-online peptides for RNF217

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    antibodies-online antibodies for RNF217 (15 products) 

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    antibodies-online kits for RNF217 (2 products) 


    (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

    1 InterPro protein domain:
     IPR002867 Znf_C6HC

    Graphical View of Domain Structure for InterPro Entry Q8TC41

    ProtoNet protein and cluster: Q8TC41

    1 Blocks protein domain: IPB002867 Zn-finger

    UniProtKB/Swiss-Prot: RN217_HUMAN, Q8TC41
    Similarity: Belongs to the RBR family. RNF217 subfamily
    Similarity: Contains 1 IBR-type zinc finger
    Similarity: Contains 1 RING-type zinc finger


    Find genes that share domains with RNF217           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: RN217_HUMAN, Q8TC41
    Function: E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes in the form of
    a thioester and then directly transfers the ubiquitin to targeted substrates (By similarity)

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity ISS--
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with RNF217           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for RNF217

    miRNA
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    miRTarBase miRNAs that target RNF217:
    hsa-mir-16-5p (MIRT031927), hsa-mir-103a-3p (MIRT027193)

    Block miRNA regulation of human, mouse, rat RNF217 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate RNF217:
    hsa-miR-424 hsa-miR-204 hsa-miR-15a hsa-miR-16 hsa-miR-497 hsa-miR-195 hsa-miR-15b hsa-miR-211
    SwitchGear 3'UTR luciferase reporter plasmidRNF217 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RNF217

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF217


    (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
    RN217_HUMAN, Q8TC41: Membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    endoplasmic reticulum1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with RNF217           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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    UniProtKB/Swiss-Prot: RN217_HUMAN, Q8TC41
    Pathway: Protein modification; protein ubiquitination

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RNF217
    Interactions:

        Search GeneGlobe Interaction Network for RNF217

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for RNF217 (ENSP000003527344) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    KIAA0368ENSP000002593354STRING: ENSP00000259335
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process ISS--

    Find genes that share ontologies with RNF217           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 RNF217 (RN217)



    (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 RNF217 gene (2 alternative transcripts): 
    NM_001286398.1  NM_152553.3  

    Unigene Cluster for RNF217:

    Ring finger protein 217
    Hs.368639  [show with all ESTs]
    Unigene Representative Sequence: AK122811
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000521654 ENST00000519971 ENST00000519565 ENST00000454842 ENST00000519799
    ENST00000368414(uc003pzt.3) ENST00000359704(uc003pzs.3) ENST00000431104
    ENST00000432158 ENST00000368415 ENST00000560949(uc003pzr.3) ENST00000275184

    miRNA
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    8 qRT-PCR Assays for microRNAs that regulate RNF217:
    hsa-miR-424 hsa-miR-204 hsa-miR-15a hsa-miR-16 hsa-miR-497 hsa-miR-195 hsa-miR-15b hsa-miR-211
    SwitchGear 3'UTR luciferase reporter plasmidRNF217 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat RNF217
      QuantiFast Probe-based Assays in human, mouse, rat RNF217

    Additional mRNA sequence: 

    AK057943.1 AK093417.1 AK122811.1 BC026087.2 

    7 DOTS entries:

    DT.308701  DT.91703351  DT.97799386  DT.100740023  DT.100683821  DT.100747317  DT.91649449 

    Selected AceView cDNA sequences (see all 56):

    BX508707 BM683514 BP336690 BQ024056 AW469110 NM_152553 AK023584 BM718471 
    BX118513 BM985293 BC026087 AA772709 CO402490 AI888256 CA436239 BU752970 
    BG623134 AK122811 BE891363 BP336659 AA373303 AK057943 AX748113 AK093417 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for RNF217    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
    SP1:                                                            
    SP2:              -                             -               


    ECgene alternative splicing isoforms for RNF217

    (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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    RNF217 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCGCTACACT
    RNF217 Expression
    About this image

    RNF217 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RNF217 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.368639
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    In Situ
    Assay Products:
     

     
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    (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 chordates.

    Orthologs for RNF217 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rnf2171 , 5 ring finger protein 2171, 5 85.71(n)1
    83.43(a)1
      10 (17.45 cM)5
    2682911  NM_001146349.11  NP_001139821.11 
     315018875 
    chicken
    (Gallus gallus)
    Aves RNF2176
    ring finger protein 217
    50(a)
    1 ↔ 1
    3(59606826-59662599)
    lizard
    (Anolis carolinensis)
    Reptilia RNF2176
    ring finger protein 217
    47(a)
    1 ↔ 1
    1(180856800-180902522)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rnf2171 ring finger protein 217 72.78(n)
    73.64(a)
      100379757  XM_004914601.1  XP_004914658.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rnf2171 ring finger protein 217 59.31(n)
    56.89(a)
      567287  NM_001082853.1  NP_001076322.1 


    ENSEMBL Gene Tree for RNF217 (if available)
    TreeFam Gene Tree for RNF217 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RNF217 gene
    Selected SIMAP similar genes for RNF217 using alignment to 7 protein entries:     RN217_HUMAN (see all proteins) (see all similar genes):
    IBRDC1    DCTN5    EML2    C18orf8    PLA2G6    SH3PXD2A
    C4orf21    AURA2    LYRM4    PKN1    CFLAR    SHANK2
    ZNF212    ATP6V0A1    LAMB4    TMEM14B    ZNF20    ASB11

    Find genes that share paralogs with RNF217           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 RNF217 (see all 1909)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs798760991,2
    C,F--125302608(+) GTTTGG/ATTGGG 1 -- us2k11Minor allele frequency- A:0.14WA 118
    rs1484112931,2
    --125302618(+) GGGGGC/TGGTGA 1 -- us2k10--------
    rs1429556501,2
    --125302682(+) GATCAA/GCCATT 1 -- us2k10--------
    rs1120112771,2
    C,F--125302732(+) TTTTTC/ACATAA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1900156451,2
    --125302822(+) AGATAC/G/TGCTAT 1 -- us2k10--------
    rs131978041,2
    C,F--125302835(+) tatatT/Cgccag 1 -- us2k19Minor allele frequency- C:0.27NA WA CSA EA 370
    rs1131613231,2
    C,F--125302872(+) ATAGAG/ATAAAG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs122126921,2
    A--125303007(+) aaaatA/Ccaaaa 1 -- us2k10--------
    rs1919597911,2
    C--125303030(+) TTGGCC/TGGGCG 1 -- us2k10--------
    rs69126981,2
    C,F,A,H--125303035(+) cgggcG/Atggtt 1 -- us2k17Minor allele frequency- A:0.24NA CSA WA EA 366

    HapMap Linkage Disequilibrium report for RNF217 (125283691 - 125413779 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for RNF217:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830795CNV Loss17160897
    nsv5466CNV Loss18451855
    nsv886625CNV Gain21882294
    nsv819530CNV Gain19587683

    Site Specific Mutation Identification with PCR Assays
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    (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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    Find genes that share disorders with RNF217           About GenesLikeMe

    Genetic Association Database (GAD): RNF217
    Human Genome Epidemiology (HuGE) Navigator: RNF217 (2 documents)

    Export disorders for RNF217 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 RNF217 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with RNF217)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1, 4 Vieira A.R....Marazita M.L. (Genet. Med. 2008)
    3. 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)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    6. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    7. A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components. (PubMed id 20682791)1 Gorbea C.... Rechsteiner M. (J. Biol. Chem. 2010)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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    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: 154214 HGNC: 21487 AceView: IBRDC1 Ensembl:ENSG00000146373 euGenes: HUgn154214
    ECgene: RNF217 H-InvDB: RNF217

    (According to HUGE)
    About This Section

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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)
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    NameDescription
    PharmGKB entry for RNF217 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RNF217 gene:
    Search GeneIP for patents involving RNF217

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



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