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RNF19A Gene

protein-coding   GIFtS: 60
GCID: GC08M101269

Ring Finger Protein 19A, RBR E3 Ubiquitin Protein Ligase

(Previous names: ring finger protein 19, ring finger protein 19A, ring finger...)
(Previous symbol: RNF19)
  See RNF19A-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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Ring Finger Protein 19A, RBR E3 Ubiquitin Protein Ligase1 2     Protein P38 Interacting With Transcription Factor Sp12
RNF191 2 3     Ring-IBR-Ring Domain Containing Protein Dorfin2
Ring Finger Protein 19A, E3 Ubiquitin Protein Ligase1 2     Dorfin3
RING Finger Protein 19A1 3     EC 6.3.2.-3
Double Ring-Finger Protein2 3     p383
Ring Finger Protein 191     EC 6.3.28
E3 Ubiquitin-Protein Ligase RNF19A2     

External Ids:    HGNC: 134321   Entrez Gene: 258972   Ensembl: ENSG000000346777   OMIM: 6071195   UniProtKB: Q9NV583   
ORGUL members:         

Export aliases for RNF19A gene to outside databases

Previous GC identifers: GC08M101340 GC08M096472


(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 RNF19A Gene:
This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains
two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin ligase that is
localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in
neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson's disease.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, Jul 2013)

GeneCards Summary for RNF19A Gene:
RNF19A (ring finger protein 19A, RBR E3 ubiquitin protein ligase) is a protein-coding gene. Diseases associated with RNF19A include lateral sclerosis, and amyotrophic lateral sclerosis. GO annotations related to this gene include transcription factor binding and ligase activity. An important paralog of this gene is ANKIB1.

UniProtKB/Swiss-Prot: RN19A_HUMAN, Q9NV58
Function: E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and
UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as
SNCAIP or CASR. Specifically ubiquitinates pathogenic SOD1 variants, which leads to their proteasomal degradation
and to neuronal protection

Gene Wiki entry for RNF19A 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_000008.10  NT_008046.17  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RNF19A gene promoter:
         FOXF2   p53   POU3F1   ATF-2   POU6F1 (c2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRNF19A promoter sequence
   Search Chromatin IP Primers for RNF19A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RNF19A


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

Entrez Gene cytogenetic band: 8q22   Ensembl cytogenetic band:  8q22.2   HGNC cytogenetic band: 8q22

RNF19A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNF19A gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M101269:  view genomic region     (about GC identifiers)

Start:
101,269,288 bp from pter      End:
101,348,446 bp from pter
Size:
79,159 bases      Orientation:
minus 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: RN19A_HUMAN, Q9NV58 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase RNF19A  
Size: 838 amino acids; 90696 Da
Subunit: Interacts with UBE2L3 and UBE2L6. Interacts with transcription factor Sp1. Interacts with VCP, CASR,
SNCAIP and with some SOD1 variants which cause amyotrophic lateral sclerosis, but not with wild-type SOD1
Sequence caution: Sequence=BAB14581.1; Type=Erroneous initiation; Sequence=BAB15647.1; Type=Erroneous initiation;
Secondary accessions: A3KCU9 Q52LG1 Q9H5H9 Q9H8M8 Q9UFG0 Q9UFX6 Q9Y4Y1
Alternative splicing: 3 isoforms:  Q9NV58-1   Q9NV58-2   Q9NV58-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RNF19A: NX_Q9NV58

Explore proteomics data for RNF19A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys352, Lys353
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for RNF19A (Q9NV58) (see all 10)
     LMEKYEEF  KYEEFMLRR  DDIKPCPRC  SKHKRNLAI 


    See RNF19A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001267468.1  NP_056250.3  NP_904355.1  

    ENSEMBL proteins: 
     ENSP00000428968   ENSP00000342667   ENSP00000431077   ENSP00000429549   ENSP00000429841  
     ENSP00000429161   ENSP00000397305   ENSP00000430553  

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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

    3 InterPro protein domains:
     IPR002867 Znf_C6HC
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q9NV58

    ProtoNet protein and cluster: Q9NV58

    2 Blocks protein domains:
    IPB001841 Zn-finger
    IPB002867 Zn-finger


    UniProtKB/Swiss-Prot: RN19A_HUMAN, Q9NV58
    Similarity: Belongs to the RBR family. RNF19 subfamily
    Similarity: Contains 1 IBR-type zinc finger
    Similarity: Contains 2 RING-type zinc fingers


    Find genes that share domains with RNF19A           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: RN19A_HUMAN, Q9NV58
    Function: E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and
    UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as
    SNCAIP or CASR. Specifically ubiquitinates pathogenic SOD1 variants, which leads to their proteasomal degradation
    and to neuronal protection

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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008134transcription factor binding TAS10976766
    GO:0008270zinc ion binding IEA--
    GO:0016874ligase activity IEA--
         
    Find genes that share ontologies with RNF19A           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for RNF19A:
     Increased G1 DNA content  Increased cell death HMECs cel 

         1 MGI phenotypic allele for Rnf19a (no phenotypes)

    Find genes that share phenotypes with RNF19A           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for RNF19A

    miRNA
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    miRTarBase miRNAs that target RNF19A:
    hsa-mir-29c-3p (MIRT020414), hsa-mir-33a-5p (MIRT028218), hsa-mir-615-3p (MIRT040088)

    Block miRNA regulation of human, mouse, rat RNF19A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RNF19A (see all 24):
    hsa-miR-140-5p hsa-miR-300 hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-miR-548s hsa-miR-138-2* hsa-miR-103a
    SwitchGear 3'UTR luciferase reporter plasmidRNF19A 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
    RN19A_HUMAN, Q9NV58: Membrane; Multi-pass membrane protein (Potential). Cytoplasm, cytoskeleton, microtubule
    organizing center, centrosome. Note=Present in the hyaline inclusion bodies specifically found in motor neurons
    from amyotrophic lateral sclerosis patients. Present in the Lewy bodies specifically found in neurons from
    Parkinson disease patients
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane3
    nucleus2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005813centrosome TAS11237715
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with RNF19A           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 RNF19A About    
    See pathways by source

    SuperPathContained pathways About
    1Parkin-Ubiquitin Proteasomal System pathway
    Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway0.89
    Parkin-Ubiquitin Proteasomal System pathway0.89

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for RNF19A
        Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway

    1 BioSystems Pathway for RNF19A
        Parkin-Ubiquitin Proteasomal System pathway


    UniProtKB/Swiss-Prot: RN19A_HUMAN, Q9NV58
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Array including RNF19A: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RNF19A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for RNF19A (Q9NV582, 3 ENSP000003426674) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K7O433182, 3, ENSP000003583354MINT-8259943 I2D: score=2 STRING: ENSP00000358335
    C11orf58O001932, 3MINT-8249851 I2D: score=2 
    ILKQ134182, 3MINT-8258610 I2D: score=2 
    NUDT21O438092, 3MINT-8264490 I2D: score=2 
    RPS6KA5O755822, 3MINT-8269670 I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization TAS11237715
    GO:0006464cellular protein modification process ----
    GO:0016567protein ubiquitination IEA--

    Find genes that share ontologies with RNF19A           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 RNF19A (RN19A)

    2 Novoseek inferred chemical compound relationships for RNF19A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mg 132 74.3 4 11237715 (1), 16513638 (1), 18586549 (1)
    superoxide 8.66 4 15030390 (2), 15456787 (2)



    Find genes that share compounds with RNF19A           About GenesLikeMe



    (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 RNF19A gene (3 alternative transcripts): 
    NM_001280539.1  NM_015435.4  NM_183419.3  

    Unigene Cluster for RNF19A:

    Ring finger protein 19A, E3 ubiquitin protein ligase
    Hs.292882  [show with all ESTs]
    Unigene Representative Sequence: NM_183419
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000519449(uc003yjj.1 uc003yjl.1 uc003yjk.1) ENST00000341084
    ENST00000520903 ENST00000523255 ENST00000523644 ENST00000520071 ENST00000524233
    ENST00000519527 ENST00000523167 ENST00000522369 ENST00000517584 ENST00000432381
    ENST00000523481 ENST00000522182 ENST00000519342
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      QuantiTect SYBR Green Assays in human, mouse, rat RNF19A
      QuantiFast Probe-based Assays in human, mouse, rat RNF19A

    Additional mRNA sequence: 

    AB029316.1 AB271913.1 AB271914.1 AJ242975.1 AK023455.1 AK027070.1 AL110253.1 AL122096.1 
    BC043648.1 BC062676.1 BC093938.1 BC093940.2 BC105300.1 

    22 DOTS entries:

    DT.116829  DT.100728731  DT.100848253  DT.97773514  DT.95287318  DT.432823  DT.100726364  DT.40243925 
    DT.100667507  DT.451683  DT.100783746  DT.121481083  DT.121481101  DT.121481107  DT.428625  DT.92445518 
    DT.92445520  DT.92445525  DT.92445541  DT.121481042  DT.95273645  DT.95287317 

    Selected AceView cDNA sequences (see all 217):

    BQ003778 AA490535 CA419089 AL122096 BU076205 BM837492 AU119452 NM_015435 
    BG434214 AI220542 AA481787 AI476701 BI869381 AA486192 BF507716 AJ242975 
    AI475137 AI568211 AA776345 AB029316 AI245561 AW173096 BI439797 AI434418 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RNF19A (see all 9)    About this scheme

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


    ECgene alternative splicing isoforms for RNF19A

    (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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    RNF19A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCTGCAGTC
    RNF19A Expression
    About this image


    RNF19A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    RNF19A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RNF19A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.292882

    UniProtKB/Swiss-Prot: RN19A_HUMAN, Q9NV58
    Tissue specificity: Widely expressed, with highest levels in heart. Ubiquitously expressed in the central nervous
    system

        Pathway & Disease-focused RT2 Profiler PCR Array including RNF19A: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
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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 animals.

    Orthologs for RNF19A gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rnf19a1 , 5 ring finger protein 19A1, 5 88.7(n)1
    93.79(a)1
      15 (14.46 cM)5
    309451  NM_013923.21  NP_038951.11 
     362399345 
    chicken
    (Gallus gallus)
    Aves RNF19A1 ring finger protein 19A, E3 ubiquitin protein ligase 82.62(n)
    90.65(a)
      420251  XM_418362.4  XP_418362.3 
    lizard
    (Anolis carolinensis)
    Reptilia RNF19A6
    ring finger protein 19A, RBR E3 ubiquitin protein ...
    87(a)
    1 ↔ 1
    GL343394.1(230587-249724)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.41212 Xenopus laevis transcribed sequence with strong similarity more 78.74(n)    BU909514.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5579951 E3 ubiquitin-protein ligase RNF19A-like 67.24(n)
    76.83(a)
      557995  XM_681158.6  XP_686250.4 
    worm
    (Caenorhabditis elegans)
    Secernentea Y49F6B.96
    C17H11.66
    Protein C17H11.6, isoform a
    41(a)
    33(a)
    many ↔ many
    many ↔ many
    II(3493921-3499389) WBGene00021721
    X(8185194-8203784) WBGene00015926


    ENSEMBL Gene Tree for RNF19A (if available)
    TreeFam Gene Tree for RNF19A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RNF19A gene
    ANKIB12  ARIH12  ARIH22  RNF19B2  RNF144A2  RNF144B2  
    2 SIMAP similar genes for RNF19A using alignment to 8 protein entries:     RN19A_HUMAN (see all proteins):
    RNF19    RNF19B

    Find genes that share paralogs with RNF19A           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 RNF19A (see all 994)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1873939741,2
    --101268832(+) GAATAA/GAAAGC 2 -- ds5001 int10--------
    rs1485053081,2
    --101268897(+) TAGAAC/TAGAAT 2 -- ds5001 int10--------
    rs1922890511,2
    --101268913(+) AAAATA/GGTCTT 2 -- ds5001 int10--------
    rs1451701621,2
    C--101269046(+) CAACC-/AATTTA 2 -- ds5001 int10--------
    rs1834055881,2
    --101269079(+) ATACAA/GTATCT 2 -- ds5001 int10--------
    rs732827051,2
    C,F--101269199(+) ATCACA/GATGGC 2 -- ds5001 int12Minor allele frequency- G:0.09WA 120
    rs1892011171,2
    --101269230(+) ACCACA/GTGGCC 2 -- ds5001 int10--------
    rs2008054481,2
    --101269257(+) TTATT-/AAAAAA 2 -- ds5001 int10--------
    rs768757501,2
    F--101269258(+) TTATTA/TAAAAA 2 -- ds5001 int11Minor allele frequency- T:0.07WA 118
    rs1930647011,2
    --101269320(+) TTTAAC/TGTATG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for RNF19A (101269288 - 101348446 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RNF19A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv820040CNV Loss19587683

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RNF19A
    DNA2.0 Custom Variant and Variant Library Synthesis for RNF19A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607119    OMIM disorders: --

    2 diseases for RNF19A:    
    About MalaCards
    lateral sclerosis    amyotrophic lateral sclerosis

    1 disease from the University of Copenhagen DISEASES database for RNF19A:
    Amyotrophic lateral sclerosis

    Find genes that share disorders with RNF19A           About GenesLikeMe

    3 Novoseek inferred disease relationships for RNF19A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    amyotrophic lateral sclerosis 73.9 4 12875980 (1), 15030390 (1), 19610091 (1), 15456787 (1)
    parkinson disease 52.6 4 12413654 (2), 12875980 (1), 15456787 (1)
    neurodegenerative diseases 51.6 5 15456787 (3), 14635514 (1), 12875980 (1)

    Genetic Association Database (GAD): RNF19A

    Export disorders for RNF19A 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 RNF19A gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with RNF19A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel centrosomal ring-finger protein, dorfin, mediates ubiquitin ligase activity. (PubMed id 11237715)1, 2, 3, 9 Niwa J.... Sobue G. (Biochem. Biophys. Res. Commun. 2001)
    2. A set of proteins interacting with transcription factor Sp1 identified in a two-hybrid screening. (PubMed id 10976766)1, 2, 3 Gunther M.... Brison O. (Mol. Cell. Biochem. 2000)
    3. Physical and functional interaction between dorfin and valosin- containing protein that are colocalized in ubiquitylated inclusions in neurodegenerative disorders. (PubMed id 15456787)1, 2, 9 Ishigaki S.... Sobue G. (J. Biol. Chem. 2004)
    4. Dorfin localizes to Lewy bodies and ubiquitylates synphilin-1. (PubMed id 12750386)1, 2, 9 Ito T.... Sobue G. (J. Biol. Chem. 2003)
    5. Dorfin ubiquitylates mutant SOD1 and prevents mutant SOD1-mediated neurotoxicity. (PubMed id 12145308)1, 2, 9 Niwa J.... Sobue G. (J. Biol. Chem. 2002)
    6. Calcium-sensing receptor ubiquitination and degradation mediated by the E3 ubiquitin ligase dorfin. (PubMed id 16513638)1, 2, 9 Huang Y.... Breitwieser G.E. (J. Biol. Chem. 2006)
    7. Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science. (PubMed id 21041692)1, 4 Denny J.C....Roden D.M. (Circulation 2010)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. 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)
    10. Dorfin localizes to the ubiquitylated inclusions in Parkinson's disease, dementia with Lewy bodies, multiple system atrophy, and amyotrophic lateral sclerosis. (PubMed id 12875980)1, 9 Hishikawa N....Sobue G. (Am. J. Pathol. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 25897 HGNC: 13432 AceView: RNF19 Ensembl:ENSG00000034677 euGenes: HUgn25897
    ECgene: RNF19A H-InvDB: RNF19A

    (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)
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    NameDescription
    PharmGKB entry for RNF19A 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 RNF19A gene:
    Search GeneIP for patents involving RNF19A

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



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