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

HERC6 Gene

protein-coding   GIFtS: 50
GCID: GC04P089299

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

(Previous name: hect domain and RLD 6)
  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 Family
Member 61 2
     Probable E3 Ubiquitin-Protein Ligase HERC62
Hect Domain And RLD 61 2     EC 6.3.2.-3
HECT Domain And RCC1-Like Domain-Containing Protein 62 3     EC 6.3.28
Potential Ubiquitin Ligase2     

External Ids:    HGNC: 260721   Entrez Gene: 550082   Ensembl: ENSG000001386427   OMIM: 6092495   UniProtKB: Q8IVU33   

Export aliases for HERC6 gene to outside databases

Previous GC identifers: GC04U900413 GC04P089603 GC04P089518 GC04P085051


(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 HERC6 Gene:
HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM
179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester
with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide
exchange factor for small G proteins (Hochrainer et al., 2005 (PubMed 15676274)).(supplied by OMIM, Mar 2008)

GeneCards Summary for HERC6 Gene: 
HERC6 (HECT and RLD domain containing E3 ubiquitin protein ligase family member 6) is a protein-coding gene. Diseases associated with HERC6 include angelman syndrome, and meningitis. GO annotations related to this gene include ubiquitin-protein ligase activity. An important paralog of this gene is HERC3.

UniProtKB/Swiss-Prot: HERC6_HUMAN, Q8IVU3
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 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 HERC6 gene promoter:
         Nkx3-1 v4   AML1a   AP-4   NF-AT   Nkx3-1 v2   NF-AT4   NF-AT2   Nkx3-1 v3   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHERC6 promoter sequence
   Search SABiosciences Chromatin IP Primers for HERC6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HERC6


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

HERC6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HERC6 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P089299:  view genomic region     (about GC identifiers)

Start:
89,299,891 bp from pter      End:
89,364,263 bp from pter
Size:
64,373 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: HERC6_HUMAN, Q8IVU3 (See protein sequence)
Recommended Name: Probable E3 ubiquitin-protein ligase HERC6  
Size: 1022 amino acids; 115126 Da
Subcellular location: Cytoplasm, cytosol
Developmental stage: Expressed in fetal brain
Sequence caution: Sequence=BAA91303.1; Type=Erroneous initiation; Sequence=BAC03879.1; Type=Erroneous initiation;
Sequence=CAI46056.1; Type=Erroneous initiation; Sequence=CAI46151.1; Type=Erroneous initiation;
Secondary accessions: B4DIY5 Q5GC90 Q5GRH3 Q5HYM6 Q5JPB6 Q6PIF4 Q8NAN3 Q9NWS4
Alternative splicing: 3 isoforms:  Q8IVU3-1   Q8IVU3-2   Q8IVU3-3   (Minor transcript)

Explore the universe of human proteins at neXtProt for HERC6: NX_Q8IVU3

Explore proteomics data for HERC6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IVU3

  • 3 DME Specific Peptides for HERC6 (Q8IVU3)
     YHSLALSK  QVAAGGAHSF  FPLALYKKLL 

    HERC6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HERC6 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001158608.1  NP_060382.3  

    ENSEMBL proteins: 
     ENSP00000369617   ENSP00000264346   ENSP00000425504   ENSP00000425060   ENSP00000273960  

    Human Recombinant Protein Products for HERC6: 
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    Novus Biologicals HERC6 Protein
    Novus Biologicals HERC6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HERC6 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol IEA--

    HERC6 for ontologies           About GeneDecksing



    HERC6 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for HERC6 

    Assay Products for HERC6: 
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    Cloud-Clone Corp. ELISAs for HERC6 
    Cloud-Clone Corp. CLIAs for HERC6


    (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 Q8IVU3

    ProtoNet protein and cluster: Q8IVU3

    1 Blocks protein domain: IPB000569 HECT domain (Ubiquitin-protein ligase)

    UniProtKB/Swiss-Prot: HERC6_HUMAN, Q8IVU3
    Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain
    Similarity: Contains 5 RCC1 repeats


    HERC6 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: HERC6_HUMAN, Q8IVU3
    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IBA--
         
    HERC6 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for HERC6:
     Decreased Salmonella enterica   Small cells 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HERC6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HERC6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HERC6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HERC6 

    miRNA
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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate HERC6
    SwitchGear 3'UTR luciferase reporter plasmidHERC6 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of HERC6

    Clone
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    OriGene clones in human, mouse for HERC6 (see all 13)
    OriGene ORF clones in mouse, rat for HERC6
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    GenScript: all cDNA clones in your preferred vector (see all 2): HERC6 (NM_017912)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HERC6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HERC6
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                         Customized lentivirus expression plasmids for stable overexpression of HERC6 

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    Search LifeMap BioReagents cell lines for HERC6
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HERC6


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    UniProtKB/Swiss-Prot: HERC6_HUMAN, Q8IVU3
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HERC6

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

    5 Interacting proteins for HERC6 (Q8IVU33 ENSP000002643464) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HERC3Q150343, ENSP000002643454I2D: score=3 STRING: ENSP00000264345
    NME2P223923, ENSP000003655724I2D: score=1 STRING: ENSP00000365572
    HERC4Q5GLZ83, ENSP000003786244I2D: score=2 STRING: ENSP00000378624
    UBQLN2Q9UHD93, ENSP000003451954I2D: score=1 STRING: ENSP00000345195
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

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

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

    HERC6 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 HERC6

    Search CenterWatch for drugs/clinical trials and news about HERC6

    (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 HERC6 gene (5 alternative transcripts): 
    NM_001013000.1  NM_001013002.1  NM_001013005.1  NM_001165136.1  NM_017912.3  

    Unigene Cluster for HERC6:

    HECT and RLD domain containing E3 ubiquitin protein ligase family member 6
    Hs.529317  [show with all ESTs]
    Unigene Representative Sequence: NM_017912
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380265(uc011cdi.2 uc011cdj.2 uc011cdk.2 uc011cdl.2)
    ENST00000264346 ENST00000504905 ENST00000506714(uc003hrp.1) ENST00000502870
    ENST00000515365 ENST00000506842 ENST00000273960
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HERC6
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate HERC6
    SwitchGear 3'UTR luciferase reporter plasmidHERC6 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HERC6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HERC6
    Clone
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    OriGene clones in human, mouse for HERC6 (see all 13)
    OriGene ORF clones in mouse, rat for HERC6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): HERC6 (NM_017912)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HERC6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HERC6
    Sirion Biotech Customized lentivirus for stable overexpression of HERC6 
                         Customized lentivirus expression plasmids for stable overexpression of HERC6 
    Primer
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    OriGene qPCR primer pairs and template standards for HERC6
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HERC6
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HERC6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HERC6

    Additional mRNA sequence: 

    AF336798.1 AK000644.1 AK092403.1 AK097168.1 AK225506.1 AK295832.1 AL833664.1 AY653201.1 
    BC035775.1 BC042047.1 BX647121.1 

    10 DOTS entries:

    DT.100813275  DT.453744  DT.95309357  DT.121269169  DT.97773924  DT.95086836  DT.100041833  DT.99945754 
    DT.40110711  DT.95133608 

    24/75 AceView cDNA sequences (see all 75):

    BX116335 BM704522 CB266500 BF858117 AW014765 BX647121 AL833664 AI859817 
    AI620475 BC035775 BC042047 AI678618 CB151258 AA487676 BM905840 CB152531 
    NM_017912 BM988714 T25852 BE897383 AK097168 AA705514 BP375833 CB151065 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for HERC6 (see all 8)    About this scheme

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

    ExUns: 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25
    SP1:                    -                 -         
    SP2:                    -                 -         
    SP3:                    -                 -         
    SP4:                    -                 -         
    SP5:                                                


    ECgene alternative splicing isoforms for HERC6

    (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

    HERC6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCCAGACCT
    HERC6 Expression
    About this image


    See HERC6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HERC6

    SOURCE GeneReport for Unigene cluster: Hs.529317

    UniProtKB/Swiss-Prot: HERC6_HUMAN, Q8IVU3
    Tissue specificity: Detected in brain, heart, placenta and testis

        SABiosciences Expression via Pathway-Focused PCR Arrays including HERC6: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HERC6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HERC6

    (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 HERC6 gene from 6/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Herc61 , 5 hect domain and RLD 61, 5 77.74(n)1
    68.17(a)1
      6 (27.82 cM)5
    671381  NM_025992.21  NP_080268.11 
     575809925 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    42(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)
    31(a)
    30(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
    28(a)
    1 → many
    I(1211490-1254671)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HUL46
    Protein with similarity to hect domain E3 ubiquiti...
    18(a)
    1 → many
    X(500713-503391)


    ENSEMBL Gene Tree for HERC6 (if available)
    TreeFam Gene Tree for HERC6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HERC6 gene
    HERC32  RCCD12  HECTD22  HERC42  UBE3A2  HERC52  
    10 SIMAP similar genes for HERC6 using alignment to 3 protein entries:     HERC6_HUMAN (see all proteins):
    HERC5    HERC4    HERC3    RCCD1    DKFZp564G092    RCC1
    UBE3A    SMURF2    WBSCR16    MYCBP2

    HERC6 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

    10/1171 SNPs in HERC6 are shown (see all 1171)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1860555101,2
    --89298158(+) AACATC/GATGAA 2 -- us2k10--------
    rs100037281,2
    C,F,A,H--89298201(+) TGGGCG/ATAGTG 2 -- us2k110Minor allele frequency- A:0.38NA WA CSA EA 258
    rs1469507841,2
    --89298295(+) GATCAC/TGCCAT 2 -- us2k10--------
    rs767565751,2
    C,F--89298345(+) CAAACA/TAACAA 2 -- us2k11Minor allele frequency- T:0.01WA 118
    rs284904111,2
    C,F--89298498(+) CTGCTA/GTACTG 2 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1899904881,2
    --89298682(+) TGTATA/TCCAGA 2 -- us2k10--------
    rs1825880771,2
    --89298694(+) ACACAC/TAGCTT 2 -- us2k10--------
    rs755767651,2
    C--89298713(+) ACCTTC/ACTCAG 2 -- us2k12Minor allele frequency- A:0.07NA 122
    rs798293571,2
    C--89298767(+) GCCAAC/GCCTGG 2 -- us2k10--------
    rs788972791,2
    C,F--89298775(+) TGGAGT/CAATCC 2 -- us2k12Minor allele frequency- C:0.07NA 122

    HapMap Linkage Disequilibrium report for HERC6 (89299891 - 89364263 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HERC6:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv879531CNV Loss21882294

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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: 609249    OMIM disorders: --

    3 diseases for HERC6:    About MalaCards
    angelman syndrome    meningitis    atherosclerosis


    HERC6 for disorders           About GeneDecksing


    Export disorders for HERC6 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 HERC6 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with HERC6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human HERC family of ubiquitin ligases: novel members, genomic organization, expression profiling, and evolutionary aspects. (PubMed id 15676274)1, 2 Hochrainer K....Kroismayr R. (2005)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Novel Loci for metabolic networks and multi-tissue exp ression studies reveal genes for atherosclerosis. (PubMed id 22916037)1 Inouye M....de Bakker P.I. (2012)
    5. Quantitative analysis of HSP90-client interactions rev eals principles of substrate recognition. (PubMed id 22939624)1 Taipale M....Lindquist S. (2012)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    9. Highly homologous HERC proteins localize to endosomes and exhibit specific interactions with hPLIC and Nm23B. (PubMed id 18535780)1 Hochrainer K....Lipp J. (2008)
    10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)

    (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: 55008 HGNC: 26072 AceView: HERC6 Ensembl:ENSG00000138642 euGenes: HUgn55008
    ECgene: HERC6 H-InvDB: HERC6

    (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 HERC6 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 HERC6 gene:
    Search GeneIP for patents involving HERC6

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



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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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