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RFFL Gene

protein-coding   GIFtS: 55
GCID: GC17M033333

Ring Finger And FYVE-Like Domain Containing E3 Ubiquitin...

(Previous name: ring finger and FYVE-like domain containing)
  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)
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Aliases
Ring Finger And FYVE-Like Domain Containing E3 Ubiquitin Protein
Ligase1 2
     CARP22
Caspase Regulator CARP22 3     FRING2
Caspases-8 And -10-Associated RING Finger Protein 22 3     RIFIFYLIN2
FYVE-RING Finger Protein Sakura2 3     E3 Ubiquitin-Protein Ligase Rififylin2
CARP-22 3     Ring Finger And FYVE-Like Domain Containing 12
RNF1892 3     EC 6.3.2.-3
RNF34L2 3     Fring3
RING Finger And FYVE-Like Domain-Containing Protein 12 3     RING Finger Protein 34-Like3
RING Finger Protein 1892 3     EC 6.3.28
Ring Finger And FYVE-Like Domain Containing1     

External Ids:    HGNC: 248211   Entrez Gene: 1175842   Ensembl: ENSG000000928717   OMIM: 6097355   UniProtKB: Q8WZ733   

Export aliases for RFFL gene to outside databases

Previous GC identifers: GC17M030360 GC17M029522


(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 RFFL Gene:
RFFL (ring finger and FYVE-like domain containing E3 ubiquitin protein ligase) is a protein-coding gene. Diseases associated with RFFL include narcolepsy, and prostatitis. GO annotations related to this gene include ligase activity. An important paralog of this gene is RNF34.

UniProtKB/Swiss-Prot: RFFL_HUMAN, Q8WZ73
Function: E3 ubiquitin-protein ligase that regulates several biological processes through the ubiquitin-mediated
proteasomal degradation of various target proteins. Mediates 'Lys-48'-linked polyubiquitination of PRR5L and its
subsequent proteasomal degradation thereby indirectly regulating cell migration through the mTORC2 complex. Also
ubiquitinates the caspases CASP8 and CASP10, promoting their proteasomal degradation, to negatively regulate
apoptosis downstream of death domain receptors. Also negatively regulates the tumor necrosis factor-mediated
signaling pathway through targeting of RIPK1 to ubiquitin-mediated proteasomal degradation. Negatively regulates
p53/TP53 through its direct ubiquitination and targeting to proteasomal degradation. Indirectly, may also
negatively regulate p53/TP53 through ubiquitination and degradation of SNF. May also play a role in endocytic
recycling

Gene Wiki entry for RFFL 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:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the RFFL gene promoter:
         Max1   FOXF2   CUTL1   POU2F1   Ik-2   POU2F1a   c-Myb   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RFFL promoter sequence
   Search Chromatin IP Primers for RFFL

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


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

Entrez Gene cytogenetic band: 17q12   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q12

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M033333:  view genomic region     (about GC identifiers)

Start:
33,333,009 bp from pter      End:
33,416,348 bp from pter
Size:
83,340 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for RFFL

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RFFL_HUMAN, Q8WZ73 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase rififylin  
Size: 363 amino acids; 40514 Da
Subunit: Interacts with CASP8 and CASP10. Interacts with RIPK1 (via protein kinase domain); involved in RIPK1
ubiquitination. Interacts with PRR5L. Interacts (via RING-type zinc finger) with p53/TP53; involved in p53/TP53
ubiquitination. Interacts (via RING-type zinc finger) with MDM2
1 PDB 3D structure from and Proteopedia for RFFL:
1Y02 (3D)    
Secondary accessions: E1P633 Q8NHW0 Q8TBY7 Q96BE6
Alternative splicing: 3 isoforms:  Q8WZ73-1   Q8WZ73-2   Q8WZ73-3   

Explore the universe of human proteins at neXtProt for RFFL: NX_Q8WZ73

Explore proteomics data for RFFL at MOPED

Post-translational modifications: 

  • Autoubiquitinated (By similarity)1
  • Palmitoylated (By similarity)1
  • Undergoes caspase-mediated cleavage upon death-receptor activation, by TNFSF10 for instance. May be mediated by
    the caspases CASP8 and CASP10 in a negative feedback loop1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for RFFL (Q8WZ73)
     GCCEKWEL  VRQLKEILARNFVNY  IDCVLLECGHMVTCTKCGKRM 


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

    REFSEQ proteins: NP_001017368.1  
    ENSEMBL proteins: 
     ENSP00000326170   ENSP00000463035   ENSP00000378096   ENSP00000389832   ENSP00000412322  
     ENSP00000408513   ENSP00000462656   ENSP00000462499   ENSP00000395090   ENSP00000464000  
     ENSP00000367777   ENSP00000268850  

    RFFL Human Recombinant Protein Products:

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    Novus Biologicals RFFL Proteins
    Novus Biologicals RFFL Lysate
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    Cloud-Clone Corp. Proteins for RFFL

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    RFFL Assay Products:

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    Cloud-Clone Corp. ELISAs for RFFL
    Cloud-Clone Corp. CLIAs for RFFL


    (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:
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD
     IPR011011 Znf_FYVE_PHD

    Graphical View of Domain Structure for InterPro Entry Q8WZ73

    ProtoNet protein and cluster: Q8WZ73

    3 Blocks protein domains:
    IPB000306 Zn-finger
    IPB001841 Zn-finger
    IPB003034 DNA-binding SAP


    UniProtKB/Swiss-Prot: RFFL_HUMAN, Q8WZ73
    Domain: The RING-type zinc finger is required for target protein ubiquitination
    Domain: The FYVE-type zinc finger domain is required for localization to the recycling endosome membranes and the
    function in endocytic recycling (By similarity)
    Similarity: Contains 1 FYVE-type zinc finger
    Similarity: Contains 1 RING-type zinc finger
    Similarity: Contains 2 SAP domains


    RFFL 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RFFL_HUMAN, Q8WZ73
    Function: E3 ubiquitin-protein ligase that regulates several biological processes through the ubiquitin-mediated
    proteasomal degradation of various target proteins. Mediates 'Lys-48'-linked polyubiquitination of PRR5L and its
    subsequent proteasomal degradation thereby indirectly regulating cell migration through the mTORC2 complex. Also
    ubiquitinates the caspases CASP8 and CASP10, promoting their proteasomal degradation, to negatively regulate
    apoptosis downstream of death domain receptors. Also negatively regulates the tumor necrosis factor-mediated
    signaling pathway through targeting of RIPK1 to ubiquitin-mediated proteasomal degradation. Negatively regulates
    p53/TP53 through its direct ubiquitination and targeting to proteasomal degradation. Indirectly, may also
    negatively regulate p53/TP53 through ubiquitination and degradation of SNF. May also play a role in endocytic
    recycling
    Induction: Down-regulated upon DNA damage

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

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IPI15069192
    GO:0002039p53 binding IPI17121812
    GO:0004842ubiquitin-protein ligase activity IDA17121812
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
         
    RFFL for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for RFFL:
     Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Decreased viability of wild-ty  Increased G1 DNA content 
     Increased cell size 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Rffl):
     normal 

    RFFL for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rffltm1Cota for RFFL

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RFFL
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RFFL
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RFFL

    miRNA
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    miRTarBase miRNAs that target RFFL:
    hsa-mir-92a-3p (MIRT049627), hsa-let-7b-5p (MIRT052109), hsa-mir-124-3p (MIRT002905), hsa-mir-7-5p (MIRT025938)

    Block miRNA regulation of human, mouse, rat RFFL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RFFL (see all 55):
    hsa-miR-142-5p hsa-miR-140-5p hsa-miR-2052 hsa-miR-579 hsa-miR-3607-3p hsa-miR-19b-2* hsa-miR-30d hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidRFFL 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for RFFL
    Predesigned siRNA for gene silencing in human, mouse, rat RFFL

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: RFFL (NM_001017368)
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFFL


    (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
    RFFL_HUMAN, Q8WZ73: Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein. Recycling endosome membrane;
    Peripheral membrane protein (By similarity). Note=The FYVE-type zinc finger may mediate phosphatidylinositol
    phosphate-binding and control subcellular localization
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    endosome1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139NOT Golgi membrane IDA18450452
    GO:0002947colocalizes with tumor necrosis factor receptor superfamily complex IDA18450452
    GO:0005737cytoplasm IDA15069192
    GO:0005764NOT lysosome IDA18450452
    GO:0005829cytosol IEA--

    RFFL for ontologies           About GeneDecksing


    (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 RFFL About                                                                                                See pathways by source

    SuperPathContained pathways About
    1TNF receptor signaling pathway
    TNF receptor signaling pathway


    1 BioSystems Pathway for RFFL
        TNF receptor signaling pathway


    UniProtKB/Swiss-Prot: RFFL_HUMAN, Q8WZ73
    Pathway: Protein modification; protein ubiquitination

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

        GeneGlobe Interaction Network for RFFL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for RFFL (Q8WZ733 ENSP000003261704) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2G2P606043, ENSP000003383484I2D: score=2 STRING: ENSP00000338348
    TP53P046373, ENSP000002693054I2D: score=1 STRING: ENSP00000269305
    RIPK1ENSP000002598084STRING: ENSP00000259808
    TNFRSF1AENSP000001627494STRING: ENSP00000162749
    TRADDENSP000003412684STRING: ENSP00000341268
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006511ubiquitin-dependent protein catabolic process IMP18450452
    GO:0006886intracellular protein transport IEA--
    GO:0010762regulation of fibroblast migration ISS--
    GO:0010804negative regulation of tumor necrosis factor-mediated signaling pathway IMP18450452
    GO:0032006regulation of TOR signaling IC--

    RFFL for ontologies           About GeneDecksing



    (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 RFFL



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RFFL gene (2 alternative transcripts): 
    NM_057178.3  NM_001017368.1  

    Unigene Cluster for RFFL:

    Ring finger and FYVE-like domain containing E3 ubiquitin protein ligase
    Hs.13680  [show with all ESTs]
    Unigene Representative Sequence: NR_037713
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000315249(uc010cti.1 uc002hip.2 uc002hio.2) ENST00000580569
    ENST00000584655 ENST00000394597(uc002hin.1) ENST00000447669 ENST00000415395
    ENST00000413582 ENST00000581039 ENST00000584541 ENST00000582308 ENST00000414419
    ENST00000581265 ENST00000378516(uc002him.1) ENST00000268850(uc002hiq.2)

    miRNA
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    Block miRNA regulation of human, mouse, rat RFFL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RFFL (see all 55):
    hsa-miR-142-5p hsa-miR-140-5p hsa-miR-2052 hsa-miR-579 hsa-miR-3607-3p hsa-miR-19b-2* hsa-miR-30d hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidRFFL 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector: RFFL (NM_001017368)
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      QuantiFast Probe-based Assays in human, mouse, rat RFFL

    Additional mRNA sequence: 

    AF434816.1 AK093112.1 AK308689.1 AY098935.1 BC015681.2 BC028424.1 CR933651.1 NR_037713.1 
    NR_037714.1 

    13 DOTS entries:

    DT.40296331  DT.70100523  DT.212992  DT.95164187  DT.91672980  DT.97789427  DT.97805008  DT.100026975 
    DT.100789501  DT.95221368  DT.120964097  DT.91992743  DT.95336943 

    Selected AceView cDNA sequences (see all 183):

    AB018363 BU521767 NM_133629 AB020412 AI369733 NM_133627 BC014422 BG059956 
    AB018361 BG060071 BE349405 BI850594 AB016224 BC002723 NM_133630 AI242571 
    BM670107 BM696809 AB016225 BM759246 BQ027317 AW296494 BG060070 AX747930 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RFFL (see all 10)    About this scheme

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


    ECgene alternative splicing isoforms for RFFL

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


    RFFL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    RFFL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RFFL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.13680

    UniProtKB/Swiss-Prot: RFFL_HUMAN, Q8WZ73
    Tissue specificity: Ubiquitous. Detected in spleen, thymus, prostate, testis, ovary, small intestine, colon and
    peripheral blood leukocytes

        Custom PCR Arrays for RFFL
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFFL

    (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 RFFL gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rffl1 , 5 ring finger and FYVE like domain containing protein1, 5 88.89(n)1
    89.53(a)1
      11 (50.25 cM)5
    673381  NM_001164570.11  NP_001158042.11 
     828024495 
    chicken
    (Gallus gallus)
    Aves RFFL1 ring finger and FYVE-like domain containing E3 ubiquitin more 69.63(n)
    68.06(a)
      417529  NM_001030711.1  NP_001025882.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rffl1 ring finger and FYVE-like domain containing E3 ubiquitin more 61.08(n)
    58.84(a)
      550050  NM_001017296.3  NP_001017296.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.290632 Transcribed sequence with strong similarity to protein more 83.85(n)    CK141680.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG170196
    --
    18(a)
    1 → many
    2R(8818417-8821550)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RFFL gene
    RNF342  
    1 SIMAP similar gene for RFFL using alignment to 5 protein entries:     RFFL_HUMAN (see all proteins):
    RNF34

    RFFL for paralogs           About GeneDecksing



    (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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    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RFFL:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2035CNV Loss18451855

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

    (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.)
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    OMIM gene information: 609735    OMIM disorders: --

    2 diseases for RFFL:    About MalaCards
    narcolepsy    prostatitis


    RFFL for disorders           About GeneDecksing

    Genetic Association Database (GAD): RFFL
    Human Genome Epidemiology (HuGE) Navigator: RFFL (3 documents)

    Export disorders for RFFL 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 RFFL gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with RFFL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Over-expression of Rififylin, a new RING finger and FYVE-like domain-containing protein, inhibits recycling from the endocytic recycling compartment. (PubMed id 15229288)1, 3, 9 Coumailleau F....Cohen-Tannoudji M. (Mol. Biol. Cell 2004)
    2. Crystal structure of a FYVE-type zinc finger domain from the caspase regulator CARP2. (PubMed id 15576038)1, 2, 9 Tibbetts M.D....Shi Y. (Structure 2004)
    3. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    4. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (Occup Environ Med 2009)
    5. Common variants at ten loci influence QT interval duration in the QTGEN Study. (PubMed id 19305408)1, 4 Newton-Cheh C.... Stricker B.H. (Nat. Genet. 2009)
    6. CARP-2 is an endosome-associated ubiquitin ligase for RIP and regulates TNF-induced NF-kappaB activation. (PubMed id 18450452)1, 2 Liao W....Srinivasula S.M. (Curr. Biol. 2008)
    7. CARPs enhance p53 turnover by degrading 14-3-3sigma and stabilizing MDM2. (PubMed id 18382127)1, 2 Yang W....El-Deiry W.S. (Cell Cycle 2008)
    8. CARPs are ubiquitin ligases that promote MDM2-independent p53 and phospho-p53ser20 degradation. (PubMed id 17121812)1, 2 Yang W....El-Deiry W.S. (J. Biol. Chem. 2007)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (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: 117584 HGNC: 24821 AceView: RAD51L3andRFFL Ensembl:ENSG00000092871 euGenes: HUgn117584
    ECgene: RFFL H-InvDB: RFFL

    (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 RFFL 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 RFFL gene:
    Search GeneIP for patents involving RFFL

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



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