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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RNF180 Gene

protein-coding   GIFtS: 46
GCID: GC05P063498

Ring Finger Protein 180

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ring Finger Protein 1801 2 3
E3 Ubiquitin-Protein Ligase RNF1802
EC 6.3.2.-3

External Ids:    HGNC: 277521   Entrez Gene: 2856712   Ensembl: ENSG000001641977   UniProtKB: Q86T963   

Export aliases for RNF180 gene to outside databases

Previous GC identifer: GC05P060416


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for RNF180 Gene: 
RNF180 (ring finger protein 180) is a protein-coding gene. Diseases associated with RNF180 include type 1 diabetes, and gastric cancer. GO annotations related to this gene include ubiquitin-protein ligase activity and ubiquitin conjugating enzyme binding.

UniProtKB/Swiss-Prot: RN180_HUMAN, Q86T96
Function: E3 ubiquitin-protein ligase which promotes polyubiquitination and degradation by the proteasome pathway
of ZIC2 (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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_006713.15  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RNF180 gene promoter:
         Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRNF180 promoter sequence
   Search SABiosciences Chromatin IP Primers for RNF180

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RNF180


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

Entrez Gene cytogenetic band: 5q12.3   Ensembl cytogenetic band:  5q12.3   HGNC cytogenetic band: 5q12.3

RNF180 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNF180 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P063498:  view genomic region     (about GC identifiers)

Start:
63,461,671 bp from pter      End:
63,668,696 bp from pter
Size:
207,026 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RN180_HUMAN, Q86T96 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase RNF180  
Size: 592 amino acids; 68254 Da
Subunit: Interacts with ZIC2 (By similarity)
Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein. Nucleus envelope (By
similarity)
Sequence caution: Sequence=CAD89939.1; Type=Erroneous initiation;
Secondary accessions: Q0JSU3 Q495A8 Q8NBD1
Alternative splicing: 3 isoforms:  Q86T96-1   Q86T96-2   Q86T96-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RNF180: NX_Q86T96

Explore proteomics data for RNF180 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86T96

  • RNF180 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RNF180 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001107033.1  NP_848627.1  

    ENSEMBL proteins: 
     ENSP00000296615   ENSP00000373752   ENSP00000426884   ENSP00000370471  

    Human Recombinant Protein Products for RNF180: 
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    Cloud-Clone Corp. Proteins for RNF180 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope IEA--
    GO:0016021integral to membrane IEA--
    GO:0031227intrinsic to endoplasmic reticulum membrane IEA--

    RNF180 for ontologies           About GeneDecksing



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

    3 InterPro protein domains:
     IPR017907 Znf_RING_CS
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q86T96

    ProtoNet protein and cluster: Q86T96

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: RN180_HUMAN, Q86T96
    Domain: The RING-type zinc finger domain mediates polyubiquitination of the interacting protein
    Similarity: Contains 1 RING-type zinc finger


    RNF180 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RN180_HUMAN, Q86T96
    Function: E3 ubiquitin-protein ligase which promotes polyubiquitination and degradation by the proteasome pathway
    of ZIC2 (By similarity)

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
    GO:0031624ubiquitin conjugating enzyme binding IEA--
    GO:0046872metal ion binding ----
         
    RNF180 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RNF180:
     Increased gamma-H2AX phosphory 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidRNF180 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    UniProtKB/Swiss-Prot: RN180_HUMAN, Q86T96
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RNF180

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for RNF180 (Q86T963 ENSP000003737524) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    ZIC2O954093, ENSP000003655144I2D: score=1 STRING: ENSP00000365514
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032436positive regulation of proteasomal ubiquitin-dependent protein catabolic process IEA--

    RNF180 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RNF180 (RN180)

    Search CenterWatch for drugs/clinical trials and news about RNF180 / RN180

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RNF180 gene (2 alternative transcripts): 
    NM_001113561.1  NM_178532.3  

    Unigene Cluster for RNF180:

    Ring finger protein 180
    Hs.657843  [show with all ESTs]
    Unigene Representative Sequence: NM_001113561
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296615(uc003jth.4) ENST00000389100(uc003jti.3) ENST00000504296
    ENST00000381081(uc010iws.3)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RNF180
    8/55 QIAGEN miScript miRNA Assays for microRNAs that regulate RNF180 (see all 55):
    hsa-miR-142-5p hsa-miR-302d hsa-miR-520e hsa-miR-25 hsa-miR-301a hsa-miR-519a hsa-miR-570 hsa-miR-372
    SwitchGear 3'UTR luciferase reporter plasmidRNF180 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RNF180

    Additional mRNA sequence: 

    AK090756.1 AL832580.2 BC101277.2 BC101278.2 BC101279.1 BC101397.2 

    3 DOTS entries:

    DT.308885  DT.100020671  DT.307726 

    24/34 AceView cDNA sequences (see all 34):

    BX113020 BM718923 BI006702 BE672684 BM728889 AI273646 CB999963 BF115015 
    BV192623 AI167804 BE218282 NM_178532 AX746601 AI431828 CB267379 AI216189 
    BE222198 BF433928 AA035198 AI521986 AL832580 AK090756 BG218201 CD356815 

    GeneLoc Exon Structure


    (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

    RNF180 expression in normal human tissues (normalized intensities)      RNF180 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGAATAAAA
    RNF180 Expression
    About this image


    RNF180 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             cd49a+ cells   
     
     Spleen (Hematopoietic System)
             Conventional Dendritic Cells I Spleen

    See RNF180 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RNF180

    SOURCE GeneReport for Unigene cluster: Hs.657843
        SABiosciences Custom PCR Arrays for RNF180
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF180

    (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 RNF180 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rnf1801 , 5 ring finger protein 1801, 5 83.84(n)1
    80.61(a)1
      13 (56.92 cM)5
    718161  NM_027934.21  NP_082210.11 
     1051493525 
    chicken
    (Gallus gallus)
    Aves RNF1806
    Uncharacterized protein
    53(a)
    1 ↔ 1
    Z(19916853-19984178)
    lizard
    (Anolis carolinensis)
    Reptilia RNF1806
    Uncharacterized protein
    47(a)
    1 ↔ 1
    1(226221712-226277061)
    zebrafish
    (Danio rerio)
    Actinopterygii rnf1801 ring finger protein 180 54.59(n)
    44.97(a)
      793295  NM_001110404.1  NP_001103874.1 


    ENSEMBL Gene Tree for RNF180 (if available)
    TreeFam Gene Tree for RNF180 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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) 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

    10/3706 SNPs in RNF180 are shown (see all 3706)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1861446431,2
    --63459672(+) GTGGAA/GAAAGT 2 -- us2k10--------
    rs781995601,2
    F--63459718(+) CCTACG/ATAGGT 2 -- us2k12Minor allele frequency- A:0.02CSA WA 120
    rs1429828541,2
    --63459916(+) AACCAC/GTTTGT 2 -- us2k10--------
    rs1509202891,2
    C--63460197(+) GGTTAC/TAGAAA 2 -- us2k10--------
    rs764387791,2
    F--63460221(+) AAACTG/AAGAGC 2 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1923533181,2
    --63460380(+) GAAGTA/GGCAAC 2 -- us2k10--------
    rs1823819041,2
    --63460510(+) TATTCC/GTAGTT 2 -- us2k10--------
    rs1133741761,2
    C,F--63460514(+) CCTAGC/TTGAAG 2 -- us2k11Minor allele frequency- T:0.50NA 2
    rs1878695151,2
    --63460517(+) AGTTGA/GAGTGT 2 -- us2k10--------
    rs1446298801,2
    --63460571(+) TCATCA/TTTTGA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for RNF180 (63461671 - 63668696 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for RNF180:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2514773CNV Deletion19546169
    esv2730269CNV Deletion23290073
    esv2638843CNV Deletion19546169
    nsv830322CNV Gain17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for RNF180:    About MalaCards
    type 1 diabetes    gastric cancer


    RNF180 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RNF180
    Human Genome Epidemiology (HuGE) Navigator: RNF180 (1 document)

    Export disorders for RNF180 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)
    About This Section

    PubMed articles for RNF180 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with RNF180)
        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. (2010)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PubMed id 23503679)1 Zhu J....Elledge S.J. (2013)
    5. HTR1A a novel type 1 diabetes susceptibility gene on c hromosome 5p13-q13. (PubMed id 22563461)1 Asad S....Kockum I. (2012)
    6. Characterization of the gene structure, functional sig nificance, and clinical application of RNF180, a novel gene in gastric cancer. (PubMed id 21717426)1 Cheung K.F....Yu J. (2012)
    7. Rines/RNF180, a novel RING finger gene-encoded produc t, is a membrane-bound ubiquitin ligase. (PubMed id 18363970)1 Ogawa M....Aruga J. (2008)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 285671 HGNC: 27752 AceView: LOC285671 Ensembl:ENSG00000164197 euGenes: HUgn285671
    ECgene: RNF180 H-InvDB: RNF180

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for RNF180 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RNF180 gene:
    Search GeneIP for patents involving RNF180

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
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