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

HERC5 Gene

protein-coding   GIFtS: 60
GCID: GC04P089378

HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase...

(Previous name: hect domain and RLD 5)
Microbiology & Infectious Diseases Congress
  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
HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 51 2     HECT Domain And RCC1-Like Domain-Containing Protein 52 3
CEB12 3 5     E3 ISG15--Protein Ligase HERC52
Hect Domain And RLD 51 2     Probable E3 Ubiquitin-Protein Ligase HERC52
Cyclin-E-Binding Protein 12 3     EC 6.3.2.-3
CEBP12 3     EC 6.3.28

External Ids:    HGNC: 243681   Entrez Gene: 511912   Ensembl: ENSG000001386467   OMIM: 6082425   UniProtKB: Q9UII43   

Export aliases for HERC5 gene to outside databases

Previous GC identifers: GC04P089837 GC04P089735 GC04P089597 GC04P085130


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

Entrez Gene summary for HERC5 Gene:
This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five
RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein
localizes to the cytoplasm and perinuclear region and functions as an interferon-induced E3 protein ligase that
mediates ISGylation of protein targets. The gene lies in a cluster of HERC family genes on chromosome 4.
(provided by RefSeq, Jul 2008)

GeneCards Summary for HERC5 Gene: 
HERC5 (HECT and RLD domain containing E3 ubiquitin protein ligase 5) is a protein-coding gene. Diseases associated with HERC5 include mature teratoma, and liddle syndrome, and among its related super-pathways are Interferon Signaling and Immune System. GO annotations related to this gene include ubiquitin-protein ligase activity and ISG15 ligase activity. An important paralog of this gene is HERC3.

UniProtKB/Swiss-Prot: HERC5_HUMAN, Q9UII4
Function: Major E3 ligase for ISG15 conjugation. Acts as a positive regulator of innate antiviral response in
cells induced by interferon. Makes part of the ISGylation machinery that recognizes target proteins in a broad
and relatively non-specific manner. Catalyzes ISGylation of IRF3 which results in sustained activation, it
attenuates IRF3-PIN1 interaction, which antagonizes IRF3 ubiquitination and degradation, and boosts the antiviral
response. Catalyzes ISGylation of influenza A viral NS1 which attenuates virulence; ISGylated NS1 fails to form
homodimers and thus to interact with its RNA targets. Catalyzes ISGylation of papillomavirus type 16 L1 protein
which results in dominant-negative effect on virus infectivity. Physically associated with polyribosomes, broadly
modifies newly synthesized proteins in a cotranslational manner. In an interferon-stimulated cell, newly
translated viral proteins are primary targets of ISG15

Gene Wiki entry for HERC5 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HERC5 gene promoter:
         FOXD3   FOXO3   CUTL1   NF-kappaB   HNF-3beta   Gfi-1   FOXO3b   FOXO3a   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHERC5 promoter sequence
   Search SABiosciences Chromatin IP Primers for HERC5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HERC5


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

Entrez Gene cytogenetic band: 4q22.1   Ensembl cytogenetic band:  4q22.1   HGNC cytogenetic band: 4q22.1-q23

HERC5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HERC5 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P089378:  view genomic region     (about GC identifiers)

Start:
89,378,268 bp from pter      End:
89,427,314 bp from pter
Size:
49,047 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: HERC5_HUMAN, Q9UII4 (See protein sequence)
Recommended Name: E3 ISG15--protein ligase HERC5  
Size: 1024 amino acids; 116852 Da
Subunit: Binds to CCNA1, CCNB1, CCND1 and CCNE1. Interacts with UBE2L6. Interacts with IRF3, this interaction is
marginal in resting cells but enhanced upon viral infection
Subcellular location: Cytoplasm, perinuclear region. Note=Associated with the polyribosomes, probably via the 60S
subunit
Caution: Was thought to be an ubiquitin ligase ubiquitinated by UBE2D1, but was confirmed by numerous studies that
it's main function is as E3 ISG15 ligase (PubMed:15331633)
Secondary accessions: B2RTQ1 Q69G20

Explore the universe of human proteins at neXtProt for HERC5: NX_Q9UII4

Explore proteomics data for HERC5 at MOPED 

Post-translational modifications:

  • UniProtKB: ISGylated (Probable)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UII4

  • 2 DME Specific Peptides for HERC5 (Q9UII4)
     GQLGHNST  YHSLALSK 

    HERC5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HERC5 Protein Expression
    REFSEQ proteins: NP_057407.2  
    ENSEMBL proteins: 
     ENSP00000264350   ENSP00000424129  
    Reactome Protein details: Q9UII4
    Human Recombinant Protein Products for HERC5: 
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    Novus Biologicals HERC5 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HERC5 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IBA--
    GO:0005737cytoplasm IBA--
    GO:0005829cytosol TAS--
    GO:0048471perinuclear region of cytoplasm IEA--

    HERC5 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for HERC5 

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    Cloud-Clone Corp. CLIAs for HERC5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR009091 RCC1/BLIP-II
     IPR000569 HECT
     IPR000408 Reg_chr_condens

    Graphical View of Domain Structure for InterPro Entry Q9UII4

    ProtoNet protein and cluster: Q9UII4

    2 Blocks protein domains:
    IPB000408 Regulator of chromosome condensation
    IPB000569 HECT domain (Ubiquitin-protein ligase)


    UniProtKB/Swiss-Prot: HERC5_HUMAN, Q9UII4
    Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain
    Similarity: Contains 5 RCC1 repeats


    HERC5 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: HERC5_HUMAN, Q9UII4
    Function: Major E3 ligase for ISG15 conjugation. Acts as a positive regulator of innate antiviral response in
    cells induced by interferon. Makes part of the ISGylation machinery that recognizes target proteins in a broad
    and relatively non-specific manner. Catalyzes ISGylation of IRF3 which results in sustained activation, it
    attenuates IRF3-PIN1 interaction, which antagonizes IRF3 ubiquitination and degradation, and boosts the antiviral
    response. Catalyzes ISGylation of influenza A viral NS1 which attenuates virulence; ISGylated NS1 fails to form
    homodimers and thus to interact with its RNA targets. Catalyzes ISGylation of papillomavirus type 16 L1 protein
    which results in dominant-negative effect on virus infectivity. Physically associated with polyribosomes, broadly
    modifies newly synthesized proteins in a cotranslational manner. In an interferon-stimulated cell, newly
    translated viral proteins are primary targets of ISG15
    Induction: By IFNB1/IFN-beta. In endothelial cells, by TNF, IL1B/interleukin-1B and by bacterial
    lipopolysaccharides (LPS), hardly induced in other cells of the vascular wall such as primary smooth muscle cells
    and fibroblasts. By viral infection

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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IBA--
    GO:0005515protein binding IPI--
    GO:0042296ISG15 ligase activity IDA--
         
    HERC5 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for HERC5:
     Increased cell death HMECs cel  Synthetic lethal with paclitax 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HERC5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HERC5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HERC5 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HERC5 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HERC5


    (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

    SuperPaths for HERC5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Interferon Signaling
    Interferon Signaling0.61
    Antiviral mechanism by IFN-stimulated genes0.42
    Cytokine Signaling in Immune system0.61
    ISG15 antiviral mechanism0.42
    2Immune System
    Immune System0.56
    Innate Immune System0.50
    3RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways0.52
    Negative regulators of RIG-I/MDA5 signaling0.49

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/8        Reactome Pathways for HERC5 (see all 8)
        Antiviral mechanism by IFN-stimulated genes
    Cytokine Signaling in Immune system
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
    Interferon Signaling
    Negative regulators of RIG-I/MDA5 signaling



    HERC5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HERC5

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

    5/102 Interacting proteins for HERC5 (Q9UII42, 3 ENSP000002643504) via UniProtKB, MINT, STRING, and/or I2D (see all 102)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCNA2P202483, ENSP000002740264I2D: score=2 STRING: ENSP00000274026
    NME2P223923, ENSP000003655724I2D: score=2 STRING: ENSP00000365572
    ERCC2P180743, ENSP000003758094I2D: score=1 STRING: ENSP00000375809
    PITX2Q996973, ENSP000003041694I2D: score=1 STRING: ENSP00000304169
    STK38Q152083, ENSP000002298124I2D: score=1 STRING: ENSP00000229812
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000079regulation of cyclin-dependent protein serine/threonine kinase activity TAS10581175
    GO:0019221cytokine-mediated signaling pathway TAS--
    GO:0032020ISG15-protein conjugation IDA--
    GO:0032480negative regulation of type I interferon production TAS--
    GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA--

    HERC5 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 HERC5

    Search CenterWatch for drugs/clinical trials and news about HERC5

    (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 HERC5 gene: 
    NM_016323.3  

    Unigene Cluster for HERC5:

    HECT and RLD domain containing E3 ubiquitin protein ligase 5
    Hs.26663  [show with all ESTs]
    Unigene Representative Sequence: AY337518
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264350(uc003hrt.3 uc011cdm.2) ENST00000508695 ENST00000508159
    ENST00000510223 ENST00000502913
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HERC5
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate HERC5
    SwitchGear 3'UTR luciferase reporter plasmidHERC5 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HERC5
    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HERC5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HERC5
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HERC5

    Additional mRNA sequence: 

    AB027289.1 AK302142.1 AY337518.1 BC140716.1 

    6 DOTS entries:

    DT.95262408  DT.111304  DT.100739203  DT.91928000  DT.121269175  DT.209775 

    24/54 AceView cDNA sequences (see all 54):

    AA905126 AA075057 BQ016184 AI217452 AI201128 AK093155 AI336946 AI269614 
    BM931872 AA869005 AY337518 NM_016323 BQ224310 BX109618 AI139751 AA555023 
    BE672545 BG203655 AB027289 BX646381 BU195455 AL706351 BI828185 AA813457 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for HERC5    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a ·
    SP1:        -     -                                                                       -                                                                     
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                            -     -         
    SP4:              -                                                                                                                                             
    SP5:                                                                                                                                                            

    ExUns: 24b ^ 25 ^ 26
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for HERC5

    (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

    HERC5 expression in normal human tissues (normalized intensities)      HERC5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTTTCATT
    HERC5 Expression
    About this image


    HERC5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             XY Germ Cells Testis Cord
             testis ; cells in seminiferus ducts   
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Line H9 (WA09)
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Kidney (Urinary System)
             kidney ; cells in tubules   
     
     Gonad
             XY Germ Cells Testis Cord

    See HERC5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HERC5

    SOURCE GeneReport for Unigene cluster: Hs.26663

    UniProtKB/Swiss-Prot: HERC5_HUMAN, Q9UII4
    Tissue specificity: Expressed in testis and to a lesser degree in brain, ovary and placenta. Found in most tissues
    at low levels

        SABiosciences Expression via Pathway-Focused PCR Arrays including HERC5: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HERC5

    (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 animals and fungi.

    Orthologs for HERC5 gene from 6/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia HERC51 HECT and RLD domain containing E3 ubiquitin protein more 82.68(n)
    76.22(a)
      478474  XM_535652.3  XP_535652.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    36(a)
    1 → many
    5(45742544-45771910)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch73-190m4.16
    si:ch211-281g13.46
    (see all 4)
    si:ch211-281g13.4
    (see all 4)
    32(a)
    32(a)
    (see all 4)
    possible ortholog
    possible ortholog
    (see all 4)
    1(51120951-51144304)
    1(50053444-50064622)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG91536
    --
    31(a)
    1 → many
    3L(1313696-1318330)
    worm
    (Caenorhabditis elegans)
    Secernentea herc-16
    Protein HERC-1
    27(a)
    1 → many
    I(1211490-1254671)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATS1(YAL020C)4 Protein required, with Elongator complex, Kti11p, and more   --   1(114615-113614) 851213  NP_009382.1 


    ENSEMBL Gene Tree for HERC5 (if available)
    TreeFam Gene Tree for HERC5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HERC5 gene
    HERC32  HERC62  RCCD12  HECTD22  HERC42  UBE3A2  
    6 SIMAP similar genes for HERC5 using alignment to 2 protein entries:     HERC5_HUMAN (see all proteins):
    HERC6    DKFZp564G092    HERC4    HERC3    HECTD2    UBE3A

    HERC5 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) 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

    10/825 SNPs in HERC5 are shown (see all 825)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1444478901,2
    --89376298(+) CCAAGA/GCAATT 1 -- us2k10--------
    rs1831345441,2
    --89376327(+) TGGAAC/TGACTG 1 -- us2k10--------
    rs1146757151,2
    F--89376337(+) GGAAAT/CCCATA 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1885711491,2
    --89376345(+) ATAAGA/GAAAAA 1 -- us2k10--------
    rs1175835261,2
    F--89376444(+) ACAATT/CAGGCA 1 -- us2k11Minor allele frequency- C:0.01EA 120
    rs1920436191,2
    --89376447(+) ATTAGG/TCATGT 1 -- us2k10--------
    rs1397318791,2
    --89376535(+) CCCAGC/GTCACA 1 -- us2k10--------
    rs1830671791,2
    --89376661(+) CCTTGA/TGGGCA 1 -- us2k10--------
    rs97843971,2
    C,F,A,H--89376717(+) ttgtgG/Aggcag 1 -- us2k114Minor allele frequency- A:0.46NS EA NA WA CSA 785
    rs1877038221,2
    --89376743(+) GGGACC/TCTCCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HERC5 (89378268 - 89427314 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HERC5:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv879531CNV Loss21882294

    SABiosciences Cancer Mutation PCR Assays
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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
    OMIM gene information: 608242    OMIM disorders: --

    8 diseases for HERC5:    About MalaCards
    mature teratoma    liddle syndrome    teratoma    angelman syndrome
    endotheliitis    influenza    hepatocellular carcinoma    colorectal cancer

    1 disease from the University of Copenhagen DISEASES database for HERC5:
    Liddle syndrome

    HERC5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HERC5

    Export disorders for HERC5 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 HERC5 gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with HERC5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel human gene encoding HECT domain and RCC1-like repeats interacts with cyclins and is potentially regulated by the tumor suppressor proteins. (PubMed id 10581175)1, 2, 3 Mitsui K.... Ohtsubo M. (1999)
    2. HERC5, a HECT E3 ubiquitin ligase tightly regulated in LPS activated endothelial cells. (PubMed id 15331633)1, 2, 9 Kroismayr R....Lipp J. (2004)
    3. HERC5 is an IFN-induced HECT-type E3 protein ligase that mediates type I IFN-induced ISGylation of protein targets. (PubMed id 16815975)1, 2, 9 Wong J.J....Chin K.C. (2006)
    4. Genome-wide association study of lung function decline in adults with and without asthma. (PubMed id 22424883)1, 4 Imboden M....Probst-Hensch N.M. (2012)
    5. Positive regulation of interferon regulatory factor 3 activation by Herc5 via ISG15 modification. (PubMed id 20308324)1, 2 Shi H.X....Wang C. (2010)
    6. Herc5, an interferon-induced HECT E3 enzyme, is required for conjugation of ISG15 in human cells. (PubMed id 16407192)1, 2 Dastur A....Huibregtse J.M. (2006)
    7. Identification and Herc5-mediated ISGylation of novel target proteins. (PubMed id 16884686)1, 2 Takeuchi T....Yokosawa H. (2006)
    8. Paternal lifestyle as a potential source of germline m utations transmitted to offspring. (PubMed id 23538710)1 Linschooten J.O....Godschalk R.W. (2013)
    9. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    10. Functional proteomics establishes the interaction of S IRT7 with chromatin remodeling complexes and expands its role in regulation of R NA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C....Cristea I.M. (2012)

    (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: 51191 HGNC: 24368 AceView: HERC5 Ensembl:ENSG00000138646 euGenes: HUgn51191
    ECgene: HERC5 H-InvDB: HERC5

    (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 HERC5 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 HERC5 gene:
    Search GeneIP for patents involving HERC5

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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