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

HERC6 Gene

protein-coding   GIFtS: 48
GCID: GC04P089299

HECT and RLD domain containing E3 ubiquitin protein ligase...

(Previous name: hect domain and RLD 6 )
 Explore 3 diseases affiliated with
HERC6 via our new
 Human Malady Compendium 
Biological research products
for HERC6
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member
61 2
     Potential Ubiquitin Ligase2
Hect Domain And RLD 61 2     Probable E3 Ubiquitin-Protein Ligase HERC62
HECT Domain And RCC1-Like Domain-Containing Protein 62 3     EC 6.3.2.-3
FLJ206371     EC 6.3.28

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:
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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IVU3

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

    HERC6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000369617   ENSP00000264346   ENSP00000425504   ENSP00000425060   ENSP00000273960  

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    Uscn 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



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    HERC6 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR009091 Reg_csome_cond/b-lactamase_inh
     IPR000569 HECT
     IPR000408 Reg_chr_condens

    Graphical View of Domain Structure for InterPro Entry Q8IVU3

    ProtoNet protein and cluster: Q8IVU3

    1 Blocks protein family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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)

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

    miRNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HERC6

    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


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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)

    5/6 Interacting proteins for HERC6 (Q8IVU33 ENSP000002643464) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    NME2P223923, ENSP000003655724I2D: score=1 STRING: ENSP00000365572
    HERC3Q150343, ENSP000002643454I2D: score=3 STRING: ENSP00000264345
    NME1-NME2P223923I2D: score=1 
    HERC4Q5GLZ83, ENSP000003786244I2D: score=2 STRING: ENSP00000378624
    UBQLN2Q9UHD93, ENSP000003451954I2D: score=1 STRING: ENSP00000345195
    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, 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 235 Homo sapiens; Mar 10 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,
    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, 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
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    Additional cDNA 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):

    BF858117 NM_017912 AI859817 BM988714 AW014765 CB151258 AL833664 BX116335 
    AI620475 BE897383 BM905840 CB266500 CB152531 AI678618 BX647121 BC035775 
    BC042047 AA487676 BM704522 T25852 AL832670 BQ019146 AI807477 AA826244 

    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
    CGAP TAG: GGCCAGACCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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

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    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.

    Orthologs for HERC6 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    33(a)
    possible ortholog
    4(36187262-36196497)
    lizard
    (Anolis carolinensis)
    Reptilia HERC66
    --
    47(a)
    1 → many
    5(45742736-45768085)
    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)
    1 ↔ many
    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
    --
    28(a)
    1 → many
    I(1211493-1254700)


    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
    HERC12  HECTD22  HECTD32  HERC22  HERC32  RCCD12  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, UniProtKB, 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
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HERC6
    DNA2.0 Custom Variant and Variant Library Synthesis for HERC6

    (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.)
    About This Section

    HERC6 for disorders           About GeneDecksing

    OMIM gene information: 609249    OMIM disorders: --

    3 diseases for HERC6:    About MalaCards
    angelman syndrome    meningitis    malaria


    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 11):
    (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. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    7. Highly homologous HERC proteins localize to endosomes and exhibit specific interactions with hPLIC and Nm23B. (PubMed id 18535780)1 Hochrainer K....Lipp J. (2008)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (1994)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55008 HGNC: 26072 AceView: HERC6 Ensembl:ENSG00000138642 euGenes: HUgn55008
    ECgene: HERC6 H-InvDB: HERC6

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for HERC6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for HERC6 gene:
    Search GeneIP for patents involving HERC6

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