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HERC4 Gene

protein-coding   GIFtS: 57
GCID: GC10M069681

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

(Previous name: hect domain and RLD 4)
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(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 41 2     EC 6.3.2.-3
Hect Domain And RLD 41 2     KIAA15933
HECT Domain And RCC1-Like Domain-Containing Protein 42 3     EC 6.3.28
Probable E3 Ubiquitin-Protein Ligase HERC42     

External Ids:    HGNC: 245211   Entrez Gene: 260912   Ensembl: ENSG000001486347   OMIM: 6092485   UniProtKB: Q5GLZ83   

Export aliases for HERC4 gene to outside databases

Previous GC identifers: GC10M069027 GC10M069351 GC10M063681


(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 HERC4 Gene:
HERC4 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 HERC4 Gene:
HERC4 (HECT and RLD domain containing E3 ubiquitin protein ligase 4) is a protein-coding gene. GO annotations related to this gene include ubiquitin-protein ligase activity. An important paralog of this gene is HERC3.

UniProtKB/Swiss-Prot: HERC4_HUMAN, Q5GLZ8
Function: Probable E3 ubiquitin-protein ligase involved in either protein trafficking or in the distribution of
cellular structures. Required for spermatozoon maturation and fertility, and for the removal of the cytoplasmic
droplet of the spermatozoon. E3 ubiquitin-protein ligases accept ubiquitin from an E2 ubiquitin-conjugating
enzyme in the form of a thioester and then directly transfer it 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 at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HERC4 gene promoter:
         AhR   Arnt   RORalpha2   AREB6   RORalpha1   FOXJ2 (long isoform)   Chx10   FOXJ2   NF-kappaB1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHERC4 promoter sequence
   Search Chromatin IP Primers for HERC4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HERC4


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

Entrez Gene cytogenetic band: 10q21.3   Ensembl cytogenetic band:  10q21.3   HGNC cytogenetic band: 10q21.3

HERC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HERC4 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M069681:  view genomic region     (about GC identifiers)

Start:
69,681,656 bp from pter      End:
69,835,105 bp from pter
Size:
153,450 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: HERC4_HUMAN, Q5GLZ8 (See protein sequence)
Recommended Name: Probable E3 ubiquitin-protein ligase HERC4  
Size: 1057 amino acids; 118563 Da
Developmental stage: Expressed in fetal brain
Sequence caution: Sequence=BAB13419.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q5GC98 Q5GC99 Q5GCA0 Q8IXP9 Q9HCH9
Alternative splicing: 6 isoforms:  Q5GLZ8-1   Q5GLZ8-2   Q5GLZ8-3   Q5GLZ8-4   Q5GLZ8-5   Q5GLZ8-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HERC4: NX_Q5GLZ8

Explore proteomics data for HERC4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys132, Lys365, Lys469, Lys488, Lys493, Lys890
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HERC4 (Q5GLZ8) (see all 11)
     GQVYAWG  GQLGHNST  TIKIFWEV  YHSLALSK 


    See HERC4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001265114.1  NP_001265115.1  NP_001265116.1  NP_056416.2  NP_071362.1  

    ENSEMBL proteins: 
     ENSP00000277817   ENSP00000416504   ENSP00000378624   ENSP00000406171   ENSP00000423671  
     ENSP00000362804   ENSP00000427191   ENSP00000422383   ENSP00000426563   ENSP00000378614  

    HERC4 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for HERC4

     
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    antibodies-online proteins for HERC4 (2 products) 

     
    antibodies-online peptides for HERC4

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    antibodies-online antibodies for HERC4 (34 products) 

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    (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 Q5GLZ8

    ProtoNet protein and cluster: Q5GLZ8

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


    UniProtKB/Swiss-Prot: HERC4_HUMAN, Q5GLZ8
    Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain
    Similarity: Contains 7 RCC1 repeats


    Find genes that share domains with HERC4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HERC4_HUMAN, Q5GLZ8
    Function: Probable E3 ubiquitin-protein ligase involved in either protein trafficking or in the distribution of
    cellular structures. Required for spermatozoon maturation and fertility, and for the removal of the cytoplasmic
    droplet of the spermatozoon. E3 ubiquitin-protein ligases accept ubiquitin from an E2 ubiquitin-conjugating
    enzyme in the form of a thioester and then directly transfer it 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--
         
    Find genes that share ontologies with HERC4           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for HERC4:
     Decreased influenza A/WSN/33 r  Increased cell death in HCC-19 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Herc4):
     reproductive system 

    Find genes that share phenotypes with HERC4           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for HERC4

    miRNA
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    miRTarBase miRNAs that target HERC4:
    hsa-mir-222-3p (MIRT046760), hsa-mir-30c-5p (MIRT047890), hsa-mir-155-5p (MIRT020643)

    Block miRNA regulation of human, mouse, rat HERC4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HERC4 (see all 27):
    hsa-miR-361-5p hsa-miR-520d-5p hsa-miR-218-2* hsa-miR-25 hsa-miR-374a hsa-miR-342-3p hsa-miR-197 hsa-miR-4275
    SwitchGear 3'UTR luciferase reporter plasmidHERC4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HERC4

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HERC4


    (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
    HERC4_HUMAN, Q5GLZ8: Cytoplasm, cytosol. Note=shows a punctate cytoplasmic distribution
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus3

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

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

    Find genes that share ontologies with HERC4           About GenesLikeMe


    (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 HERC4 About    
    See pathways by source

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


    Find genes that share SuperPaths with HERC4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for HERC4):
        Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: HERC4_HUMAN, Q5GLZ8
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Array including HERC4: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for HERC4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for HERC4 (Q5GLZ83 ENSP000003786244) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HERC6Q8IVU33, ENSP000002643464I2D: score=2 STRING: ENSP00000264346
    UBCENSP000003448184STRING: ENSP00000344818
    ZCCHC7ENSP000003378394STRING: ENSP00000337839
    ECT2ENSP000002324584STRING: ENSP00000232458
    ELP3ENSP000002563984STRING: ENSP00000256398
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007283spermatogenesis ISS17967448
    GO:0030154cell differentiation IEA--
    GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA--

    Find genes that share ontologies with HERC4           About GenesLikeMe



    (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 HERC4



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HERC4 gene (6 alternative transcripts): 
    NM_001017972.1  NM_001278185.1  NM_001278186.1  NM_001278187.1  NM_015601.3  NM_022079.2  

    Unigene Cluster for HERC4:

    HECT and RLD domain containing E3 ubiquitin protein ligase 4
    Hs.51891  [show with all ESTs]
    Unigene Representative Sequence: NM_022079
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000277817(uc009xpq.3) ENST00000412272(uc009xpr.3) ENST00000395198(uc001jng.4 uc001jnh.4 uc001jni.4)
    ENST00000427635(uc001jnf.4) ENST00000473533 ENST00000373700 ENST00000480158
    ENST00000460168(uc021prr.1) ENST00000463478 ENST00000513996 ENST00000395185
    ENST00000505760 ENST00000492996(uc001jnk.3) ENST00000506515 ENST00000515753
    ENST00000395187
    miRNA
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    Block miRNA regulation of human, mouse, rat HERC4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HERC4 (see all 27):
    hsa-miR-361-5p hsa-miR-520d-5p hsa-miR-218-2* hsa-miR-25 hsa-miR-374a hsa-miR-342-3p hsa-miR-197 hsa-miR-4275
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HERC4
      QuantiTect SYBR Green Assays in human, mouse, rat HERC4
      QuantiFast Probe-based Assays in human, mouse, rat HERC4

    Additional mRNA sequence: 

    AB046813.1 AK026808.1 AK027835.1 AK292809.1 AY221963.1 AY650033.1 AY650034.1 BC015043.1 
    BC018114.1 BC039465.1 BC039600.1 

    16 DOTS entries:

    DT.314703  DT.95364733  DT.92426984  DT.100797241  DT.95372946  DT.100640722  DT.104048  DT.100658746 
    DT.101968121  DT.121277435  DT.95362282  DT.97843516  DT.100797242  DT.92426983  DT.97819751  DT.95237347 

    Selected AceView cDNA sequences (see all 122):

    BM126473 BQ721985 CB178436 BM761599 AI810059 AI300250 CA841665 AA922124 
    CO245364 AI886088 CF530071 N32787 AI123750 CB178675 AA815054 AA887267 
    AI868630 AA227914 BC018114 BM127033 CA848201 CA502853 BG213191 BU742552 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HERC4 (see all 10)    About this scheme

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

    ExUns: 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for HERC4

    (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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    HERC4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAGAAACAG
    HERC4 Expression
    About this image

    HERC4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HERC4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.51891

    UniProtKB/Swiss-Prot: HERC4_HUMAN, Q5GLZ8
    Tissue specificity: Expressed in brain and testis and detected in heart and placenta

        Pathway & Disease-focused RT2 Profiler PCR Array including HERC4: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat HERC4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HERC4

    (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 eukaryotes.

    Orthologs for HERC4 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Herc41 , 5 hect domain and RLD 41, 5 91.64(n)1
    96.78(a)1
      10 (32.56 cM)5
    673451  NM_030114.21  NP_084390.11 
     632437975 
    chicken
    (Gallus gallus)
    Aves HERC41 HECT and RLD domain containing E3 ubiquitin protein more 81.98(n)
    88.26(a)
      423683  XM_004942020.1  XP_004942077.1 
    lizard
    (Anolis carolinensis)
    Reptilia HERC46
    HECT and RLD domain containing E3 ubiquitin protei...
    87(a)
    1 ↔ 1
    GL343215.1(1307729-1349020)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.30062 Xenopus laevis transcribed sequence with weak similarity more 78.7(n)    BX844320.1 
    zebrafish
    (Danio rerio)
    Actinopterygii herc41 hect domain and RLD 4 68.03(n)
    75.6(a)
      557513  XM_680593.6  XP_685685.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG91531 CG9153 50.79(n)
    46.58(a)
      38151  NM_001274320.1  NP_001261249.1 
    worm
    (Caenorhabditis elegans)
    Secernentea herc-16
    Protein HERC-1 (herc-1) mRNA, complete cds
    35(a)
    1 → many
    I(1211492-1254671) WBGene00021685
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HUL46
    Protein with similarity to hect domain E3 ubiquiti...
    23(a)
    1 → many
    X(500713-503391) YJR036C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons UVR81 UVR8 47.92(n)
    38.98(a)
      836506  NM_125781.3  NP_201191.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g04357001 Os04g0435700 46.73(n)
    38.87(a)
      4335903  NM_001059384.1  NP_001052849.1 


    ENSEMBL Gene Tree for HERC4 (if available)
    TreeFam Gene Tree for HERC4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HERC4 gene
    HERC32  HERC62  RCCD12  HECTD22  UBE3A2  HERC52  
    13 SIMAP similar genes for HERC4 using alignment to 4 protein entries:     HERC4_HUMAN (see all proteins):
    DKFZp564G092    KIAA1651    FAM138C    UBE3A    HERC3    HERC6
    HERC5    DKFZp564H223    HECTD2    HUWE1    RCBTB2    SMURF2
    RCC1

    Find genes that share paralogs with HERC4           About GenesLikeMe



    (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)
    About This Section

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    Selected SNPs for HERC4 (see all 2811)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs747414991,2
    C,F--69681272(+) TTCTAT/CCTATA 4 -- int11Minor allele frequency- C:0.07WA 118
    rs745419251,2
    C,F--69681418(+) ATAGCG/TGTCAT 4 -- int11Minor allele frequency- T:0.16WA 118
    rs41419191,2
    C,F,H--69681567(+) CATGTG/AGGAAT 4 -- int120Minor allele frequency- A:0.03NS EA NA WA CSA 1434
    rs1178112411,2
    C,F--69681670(+) AAATAT/ATAAAA 4 -- ut311Minor allele frequency- A:0.04EA 120
    rs1869337241,2
    --69681704(+) TTCACA/GGCATT 4 -- ut310--------
    rs122559821,2
    C,F,H--69681759(+) TCACAT/AGTATT 4 -- ut31 ese35Minor allele frequency- A:0.02NS WA CSA 338
    rs1439633451,2
    --69681881(+) ATCAAC/TAATTT 4 -- ut310--------
    rs1900504361,2
    --69681956(+) GTGGAA/GACAGA 4 -- ut310--------
    rs1826394651,2
    C--69681962(+) ACAGAA/GTTCTT 4 -- ut310--------
    rs1486013211,2
    --69682022(+) AGTGTA/GTCAGG 4 -- ut310--------

    HapMap Linkage Disequilibrium report for HERC4 (69681656 - 69835105 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for HERC4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2676451CNV Deletion23128226
    nsv6977CNV Insertion18451855
    dgv766n71CNV Gain21882294
    nsv895687CNV Gain21882294
    dgv767n71CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HERC4
    DNA2.0 Custom Variant and Variant Library Synthesis for HERC4

    (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

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    OMIM gene information: 609248    OMIM disorders: --


    Find genes that share disorders with HERC4           About GenesLikeMe

    Genetic Association Database (GAD): HERC4
    Human Genome Epidemiology (HuGE) Navigator: HERC4 (2 documents)

    Export disorders for HERC4 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 HERC4 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with HERC4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    2. 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)
    3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    4. 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. (Genomics 2005)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    7. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    8. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PubMed id 22939624)1 Taipale M....Lindquist S. (Cell 2012)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    10. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)

    (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: 26091 HGNC: 24521 AceView: HERC4 Ensembl:ENSG00000148634 euGenes: HUgn26091
    ECgene: HERC4 Kegg: 26091 H-InvDB: HERC4

    (According to HUGE)
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    HUGE: KIAA1593

    (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 HERC4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HERC4 gene:
    Search GeneIP for patents involving HERC4

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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