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HERC3 Gene

protein-coding   GIFtS: 58
GCID: GC04P089444

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

(Previous name: hect domain and RLD 3)
  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
HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 31 2     EC 6.3.2.-3
Hect Domain And RLD 31 2     KIAA00323
HECT Domain And RCC1-Like Domain-Containing Protein 32 3     EC 6.3.28
Probable E3 Ubiquitin-Protein Ligase HERC32     

External Ids:    HGNC: 48761   Entrez Gene: 89162   Ensembl: ENSG000001386417   OMIM: 6052005   UniProtKB: Q150343   

Export aliases for HERC3 gene to outside databases

Previous GC identifers: GC04P089671 GC04P089815 GC04P089906 GC04P089972 GC04P089870 GC04U900479 GC04P089513 GC04P085266


(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 HERC3 Gene:
This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and
binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric
carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this
gene. (provided by RefSeq, Oct 2012)

GeneCards Summary for HERC3 Gene:
HERC3 (HECT and RLD domain containing E3 ubiquitin protein ligase 3) is a protein-coding gene. Diseases associated with HERC3 include thyroiditis, and cerebritis. GO annotations related to this gene include ubiquitin-protein ligase activity. An important paralog of this gene is HERC6.

UniProtKB/Swiss-Prot: HERC3_HUMAN, Q15034
Function: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form
of a thioester and then directly transfers the ubiquitin to targeted substrates (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HERC3 gene promoter:
         p53   Brachyury   POU6F1 (c2)   POU3F2   FOXL1   AREB6   MEF-2A   FOXO4   aMEF-2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHERC3 promoter sequence
   Search Chromatin IP Primers for HERC3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HERC3


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

Entrez Gene cytogenetic band: 4q21   Ensembl cytogenetic band:  4q22.1   HGNC cytogenetic band: 4q21

HERC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HERC3 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P089444:  view genomic region     (about GC identifiers)

Start:
89,442,199 bp from pter      End:
89,629,693 bp from pter
Size:
187,495 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HERC3_HUMAN, Q15034 (See protein sequence)
Recommended Name: Probable E3 ubiquitin-protein ligase HERC3  
Size: 1050 amino acids; 117188 Da
Sequence caution: Sequence=BAA04945.2; Type=Erroneous initiation;
Secondary accessions: A8K1S5

Explore the universe of human proteins at neXtProt for HERC3: NX_Q15034

Explore proteomics data for HERC3 at MOPED

Post-translational modifications: 

  • Ubiquitinated; which promotes degradation by the proteasome1
  • Ubiquitination2 at Lys63, Lys173, Lys920
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HERC3 (Q15034) (see all 7)
     NLLDLPKY  GGVFTFGAG  EETFCLNFTI  QVAAGGAHSF 


    See HERC3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001258531.1  NP_055421.1  

    ENSEMBL proteins: 
     ENSP00000424786   ENSP00000385684   ENSP00000405863   ENSP00000410029   ENSP00000384005  
     ENSP00000389991   ENSP00000406210   ENSP00000421021   ENSP00000264345   ENSP00000441703  

    HERC3 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for HERC3
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    OriGene Custom Protein Services for HERC3
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    Novus Biologicals HERC3 Protein
    Novus Biologicals HERC3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HERC3

    HERC3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for HERC3
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    Search ThermoFisher Antibodies for HERC3
    LSBio Antibodies in human, mouse, rat for HERC3

    HERC3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for HERC3
    Cloud-Clone Corp. CLIAs for HERC3


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

    Graphical View of Domain Structure for InterPro Entry Q15034

    ProtoNet protein and cluster: Q15034

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


    UniProtKB/Swiss-Prot: HERC3_HUMAN, Q15034
    Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain
    Similarity: Contains 7 RCC1 repeats


    HERC3 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: HERC3_HUMAN, Q15034
    Function: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form
    of a thioester and then directly transfers the ubiquitin to targeted substrates (By similarity)

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

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IBA--
         
    HERC3 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for HERC3:
     Decreased mitotic index  Increased cilium length after  

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Herc3):
     growth/size/body  integument 

    HERC3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HERC3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HERC3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HERC3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HERC3

    miRNA
    Products:
        
    miRTarBase miRNAs that target HERC3:
    hsa-mir-181a-5p (MIRT025153), hsa-mir-23b-3p (MIRT046255)

    Block miRNA regulation of human, mouse, rat HERC3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HERC3 (see all 45):
    hsa-miR-21* hsa-miR-142-5p hsa-miR-3607-3p hsa-miR-25 hsa-miR-30d hsa-miR-3138 hsa-miR-519a hsa-miR-502-3p
    SwitchGear 3'UTR luciferase reporter plasmidHERC3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HERC3
    Predesigned siRNA for gene silencing in human, mouse, rat HERC3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HERC3

    Clone
    Products:
         
    OriGene clones in human, mouse for HERC3 (see all 6)
    OriGene ORF clones in mouse, rat for HERC3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HERC3 (NM_014606)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HERC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HERC3

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HERC3
    Browse ESI BIO Cell Lines and PureStem Progenitors for HERC3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HERC3


    (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
    HERC3_HUMAN, Q15034: Cytoplasm. Cytoplasmic vesicle. Note=Also found in vesicular-like structures
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3
    endosome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IBA--
    GO:0005737cytoplasm ----
    GO:0016023cytoplasmic membrane-bounded vesicle IEA--

    HERC3 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 HERC3 About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Ubiquitin mediated proteolysis0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for HERC3):
        Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: HERC3_HUMAN, Q15034
    Pathway: Protein modification; protein ubiquitination


    HERC3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including HERC3: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for HERC3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for HERC3 (Q150342, 3 ENSP000002643454) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TK1P041832, 3MINT-8273521 I2D: score=2 
    NME2P223923, ENSP000003655724I2D: score=1 STRING: ENSP00000365572
    UBCP0CG482, 3, ENSP000003448184MINT-13794 I2D: score=2 STRING: ENSP00000344818
    HERC6Q8IVU33, ENSP000002643464I2D: score=3 STRING: ENSP00000264346
    UBQLN1Q9UMX03, ENSP000003655764I2D: score=3 STRING: ENSP00000365576
    About this table

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

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

    HERC3 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 HERC3

    4 HMDB Compounds for HERC3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HERC3 gene (2 alternative transcripts): 
    NM_001271602.1  NM_014606.2  

    Unigene Cluster for HERC3:

    HECT and RLD domain containing E3 ubiquitin protein ligase 3
    Hs.35804  [show with all ESTs]
    Unigene Representative Sequence: NM_014606
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000601319 ENST00000513325 ENST00000598772 ENST00000597259 ENST00000402738(uc003hrw.1 uc011cdn.1)
    ENST00000431413 ENST00000422770 ENST00000407637(uc003hrv.3) ENST00000426683
    ENST00000452979 ENST00000470815 ENST00000504994 ENST00000512194 ENST00000264345(uc011cdo.1)
    ENST00000543130
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HERC3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HERC3 (see all 45):
    hsa-miR-21* hsa-miR-142-5p hsa-miR-3607-3p hsa-miR-25 hsa-miR-30d hsa-miR-3138 hsa-miR-519a hsa-miR-502-3p
    SwitchGear 3'UTR luciferase reporter plasmidHERC3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HERC3
    Predesigned siRNA for gene silencing in human, mouse, rat HERC3
    Clone
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    OriGene clones in human, mouse for HERC3 (see all 6)
    OriGene ORF clones in mouse, rat for HERC3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HERC3 (NM_014606)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HERC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HERC3
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for HERC3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HERC3
      QuantiTect SYBR Green Assays in human, mouse, rat HERC3
      QuantiFast Probe-based Assays in human, mouse, rat HERC3

    Additional mRNA sequence: 

    AK289990.1 AK296379.1 AK296397.1 BC038960.1 BC064322.1 D25215.1 

    12 DOTS entries:

    DT.100021784  DT.413340  DT.121250633  DT.97839295  DT.91708889  DT.121250636  DT.121250677  DT.121250601 
    DT.413341  DT.91741906  DT.95166582  DT.97787072 

    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™, 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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    HERC3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HERC3 Expression
    About this image


    HERC3 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
     
     Limb (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
     
     Bone (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Eye (Sensory Organs)
             Mature Rod Cells Outer Nuclear Layer
    HERC3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HERC3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.35804
        Pathway & Disease-focused RT2 Profiler PCR Array including HERC3: 
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for HERC3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HERC3
    QuantiTect SYBR Green Assays in human, mouse, rat HERC3
    QuantiFast Probe-based Assays in human, mouse, rat HERC3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HERC3

    (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 and fungi.

    Orthologs for HERC3 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Herc31 , 5 hect domain and RLD 31, 5 89.08(n)1
    95.33(a)1
      6 (27.82 cM)5
    739981  NM_028705.31  NP_082981.31 
     588314655 
    chicken
    (Gallus gallus)
    Aves HERC31 hect domain and RLD 3 79.62(n)
    87.71(a)
      422514  NM_001039298.1  NP_001034387.1 
    lizard
    (Anolis carolinensis)
    Reptilia HERC36
    HECT and RLD domain containing E3 ubiquitin protei...
    81(a)
    1 ↔ 1
    5(45826568-45878163)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia herc31 HECT and RLD domain containing E3 ubiquitin protein more 72.06(n)
    77.62(a)
      100488790  XM_002938630.2  XP_002938676.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.165372 Transcribed sequence with moderate similarity to protein more 76.88(n)    BI709406.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG91533 ubiquitin-protein ligase 44(a)   61F6   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y48G8AL.13
    herc-11
    herc-11 33(a)3
    47.12(n)1
    36.48(a)1
      I(1211497-1254500)3
    1717001  NM_058433.31  NP_490834.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HUL46
    Protein with similarity to hect domain E3 ubiquiti...
    22(a)
    1 → many
    X(500713-503391) YJR036C


    ENSEMBL Gene Tree for HERC3 (if available)
    TreeFam Gene Tree for HERC3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HERC3 gene
    HERC62  RCCD12  HECTD22  HERC42  UBE3A2  HERC52  
    17 SIMAP similar genes for HERC3 using alignment to 10 protein entries:     HERC3_HUMAN (see all proteins):
    DKFZp564G092    HERC4    UBE3A    HECTD2    HERC6    HERC5
    MYCBP2    HERC1    HERC2    IBTK    DKFZp564H223    SMURF2
    HUWE1    SERGEF    WBSCR16    RCC1    AREL1

    HERC3 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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    Selected SNPs for HERC3 (see all 2093)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1495597701,2
    C--89511820(+) CCTAAA/CAATAG 2 -- us2k10--------
    rs287539651,2
    C--89511834(+) CTCTCA/CCTTTC 2 -- us2k16Minor allele frequency- C:0.06NA WA EA 368
    rs1472542971,2
    --89511864(+) TCCTTA/CGTCTT 2 -- us2k10--------
    rs1393245631,2
    --89511947(+) TGTAAC/TAGACT 2 -- us2k10--------
    rs1432859711,2
    C--89512002(+) TGTTAC/TTCTTG 2 -- us2k10--------
    rs1996327111,2
    C--89512034(+) TTTTTC/TTTTCT 2 -- us2k10--------
    rs113334231,2
    C--89512039(+) CTTTC-/TTTTTT 2 -- us2k11Minor allele frequency- T:0.00CSA 2
    rs1475395891,2
    --89512126(+) ACCTCC/TGCCTT 2 -- us2k10--------
    rs100126461,2
    C--89512134(+) CTTCCA/CGGTTC 2 -- us2k10--------
    rs1429492161,2
    --89512185(+) ACAGGC/GGCACA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for HERC3 (89442199 - 89629693 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for HERC3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2727952CNV Deletion23290073
    esv1953449CNV Deletion18987734
    esv5387CNV Deletion18987735
    esv2727953CNV Deletion23290073
    esv2278581CNV Deletion18987734
    esv2640318CNV Deletion19546169
    esv2657218CNV Deletion23128226
    nsv291508CNV Loss16902084
    nsv461575CNV Gain19166990
    nsv461576CNV Gain19166990

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605200    OMIM disorders: --

    3 diseases for HERC3:    
    About MalaCards
    thyroiditis    cerebritis    endotheliitis


    HERC3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HERC3
    Human Genome Epidemiology (HuGE) Navigator: HERC3 (1 document)

    Export disorders for HERC3 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 HERC3 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with HERC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. HERC3 binding to and regulation by ubiquitin. (PubMed id 11163799)1, 2 Cruz C.... Rosa J.L. (FEBS Lett. 2001)
    3. The human HERC3 gene maps to chromosome 4q21 by fluorescence in situ hybridization. (PubMed id 10702688)1, 3 Cruz C....Rosa J.L. (Cytogenet. Cell Genet. 1999)
    4. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PubMed id 7584026)1, 2 Nomura N.... Tabata S. (DNA Res. 1994)
    5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    6. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    7. Frameshift mutations of ubiquitination-related genes HERC2, HERC3, TRIP12, UBE2Q1 and UBE4B in gastric and colorectal carcinomas with microsatellite instability. (PubMed id 22124266)1 Yoo N.J....Lee S.H. (Pathology 2011)
    8. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)

    (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: 8916 HGNC: 4876 Ensembl:ENSG00000138641 euGenes: HUgn8916 ECgene: HERC3 Kegg: 8916
    H-InvDB: HERC3

    (According to HUGE)
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    HUGE: KIAA0032

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HERC3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for HERC3 gene:
    Search GeneIP for patents involving HERC3

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



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