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HERC1 Gene

protein-coding   GIFtS: 57
GCID: GC15M063900

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

(Previous name: hect (homologous to the E6-AP (UBE3A) carboxyl terminus)...)
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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 Family
Member 11 2
     Guanine Nucleotide Exchange Factor P5322
Hect (Homologous To The E6-AP (UBE3A) Carboxyl Terminus) Domain And RCC1
(CHC1)-Like Domain (RLD) 11 2
     Probable E3 Ubiquitin-Protein Ligase HERC12
HECT Domain And RCC1-Like Domain-Containing Protein 12 3     EC 6.3.2.-3
p5322 3     EC 6.3.28
p6192 3     

External Ids:    HGNC: 48671   Entrez Gene: 89252   Ensembl: ENSG000001036577   OMIM: 6051095   UniProtKB: Q157513   

Export aliases for HERC1 gene to outside databases

Previous GC identifers: GC15M059686 GC15M057058 GC15M061479 GC15M061616 GC15M061687 GC15M040725


(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 HERC1 Gene:
This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1
and Rab proteins. This protein may be involved in membrane transport processes. (provided by RefSeq, Mar 2012)

GeneCards Summary for HERC1 Gene:
HERC1 (HECT and RLD domain containing E3 ubiquitin protein ligase family member 1) is a protein-coding gene. GO annotations related to this gene include ubiquitin-protein ligase activity and ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is HECTD4.

UniProtKB/Swiss-Prot: HERC1_HUMAN, Q15751
Function: Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its
ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds
phosphatidylinositol 4,5-bisphosphate, which is required for GEF activity. May also act as a 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

Gene Wiki entry for HERC1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HERC1 gene promoter:
         HSF1 (long)   FOXO3   FOXD3   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   FOXO3b   Nkx6-1   HSF1short   FOXO3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHERC1 promoter sequence
   Search Chromatin IP Primers for HERC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HERC1


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

Entrez Gene cytogenetic band: 15q22   Ensembl cytogenetic band:  15q22.31   HGNC cytogenetic band: 15q22

HERC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HERC1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M063900:  view genomic region     (about GC identifiers)

Start:
63,900,817 bp from pter      End:
64,126,147 bp from pter
Size:
225,331 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: HERC1_HUMAN, Q15751 (See protein sequence)
Recommended Name: Probable E3 ubiquitin-protein ligase HERC1  
Size: 4861 amino acids; 532228 Da
Subunit: Interacts with TSC2; interaction is inhibited by TSC1. Interacts with PKM, ARF1 and ARF6. Forms a ternary
complex with clathrin heavy chain (CLTC) and HSPA1A
1 PDB 3D structure from and Proteopedia for HERC1:
4O2W (3D)    
Secondary accessions: Q8IW65

Explore the universe of human proteins at neXtProt for HERC1: NX_Q15751

Explore proteomics data for HERC1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys2769, Lys2881, Lys3311, Lys3460, Lys4462, Lys4468
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for HERC1 (Q15751)
     GELYTWG  GQVYAWG  GDGDYGKLG 


    See HERC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003913.3  
    ENSEMBL proteins: 
     ENSP00000390158   ENSP00000453196   ENSP00000453603   ENSP00000452671   ENSP00000452654  
     ENSP00000453937   ENSP00000453086   ENSP00000452969   ENSP00000453010  

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    antibodies-online antibodies for HERC1 (14 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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    HGNC Gene Families:
    WDR: WD repeat domain containing

    Selected InterPro protein domains (see all 11):
     IPR019775 WD40_repeat_CS
     IPR001870 B30.2/SPRY
     IPR009091 RCC1/BLIP-II
     IPR000569 HECT
     IPR000408 Reg_chr_condens

    Graphical View of Domain Structure for InterPro Entry Q15751

    ProtoNet protein and cluster: Q15751

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

    UniProtKB/Swiss-Prot: HERC1_HUMAN, Q15751
    Similarity: Contains 1 B30.2/SPRY domain
    Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain
    Similarity: Contains 14 RCC1 repeats
    Similarity: Contains 11 WD repeats


    Find genes that share domains with HERC1           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: HERC1_HUMAN, Q15751
    Function: Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its
    ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds
    phosphatidylinositol 4,5-bisphosphate, which is required for GEF activity. May also act as a 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

         Genatlas biochemistry entry for HERC1:
    HECT (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD)1,ubiquitously
    expressed,located in the cytosol in the Golgi apparatus,stimulating guanine nucleotide,forming a cytosolic
    ternary complex with clathrin and Hsp70,involved in protein trafficking

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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IEA--
    GO:0005086ARF guanyl-nucleotide exchange factor activity TAS8861955
    GO:0005488binding ----
    GO:0005515protein binding ----
         
    Find genes that share ontologies with HERC1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for HERC1:
     Lamellipodia and high actin ra  Synthetic lethal with c-Myc af 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Herc1):
     behavior/neurological  growth/size/body  mortality/aging  nervous system 

    Find genes that share phenotypes with HERC1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for HERC1

    miRNA
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    miRTarBase miRNAs that target HERC1:
    hsa-mir-193b-3p (MIRT041520), hsa-mir-92a-3p (MIRT048986), hsa-mir-18a-5p (MIRT050724), hsa-mir-324-3p (MIRT042828), hsa-mir-455-3p (MIRT037896)

    Block miRNA regulation of human, mouse, rat HERC1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate HERC1:
    hsa-miR-548a-3p hsa-miR-548g hsa-miR-576-5p hsa-miR-548e hsa-miR-501-3p hsa-miR-502-3p
    SwitchGear 3'UTR luciferase reporter plasmidHERC1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HERC1

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    (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
    HERC1_HUMAN, Q15751: Membrane; Peripheral membrane protein. Cytoplasm, cytosol. Golgi apparatus. Note=Recruited
    onto actin-rich surface protrusions
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    golgi apparatus5
    nucleus2
    plasma membrane2
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS8861955
    GO:0005794Golgi apparatus IEA--
    GO:0005829cytosol IEA--
    GO:0016020membrane IEA--

    Find genes that share ontologies with HERC1           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 HERC1 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 HERC1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for HERC1):
        Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: HERC1_HUMAN, Q15751
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Array including HERC1: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for HERC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for HERC1 (Q157513 ENSP000003901584) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PKMP146183, ENSP000003201714I2D: score=2 STRING: ENSP00000320171
    EP300Q094723, ENSP000002632534I2D: score=2 STRING: ENSP00000263253
    DFFAO002733I2D: score=1 
    JUNP054123I2D: score=1 
    LAPTM5Q135713I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport IEA--
    GO:0010507negative regulation of autophagy IEA--
    GO:0021702cerebellar Purkinje cell differentiation IEA--
    GO:0031175neuron projection development IEA--
    GO:0043087regulation of GTPase activity TAS8861955

    Find genes that share ontologies with HERC1           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 HERC1

    7 HMDB Compounds for HERC1    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--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HERC1 gene: 
    NM_003922.3  

    Unigene Cluster for HERC1:

    HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
    Hs.210385  [show with all ESTs]
    Unigene Representative Sequence: NM_003922
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000443617(uc002amp.3) ENST00000559996 ENST00000558324 ENST00000561348
    ENST00000561436 ENST00000561359 ENST00000560897 ENST00000559715 ENST00000561400(uc010uil.1 uc002amq.1)
    ENST00000560983 ENST00000560519 ENST00000559886(uc010bgt.1) ENST00000558532
    ENST00000560462 ENST00000560316
    miRNA
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    hsa-miR-548a-3p hsa-miR-548g hsa-miR-576-5p hsa-miR-548e hsa-miR-501-3p hsa-miR-502-3p
    SwitchGear 3'UTR luciferase reporter plasmidHERC1 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat HERC1

    Additional mRNA sequence: 

    AK226162.1 AK296690.1 AK310519.1 BC040929.1 U50078.1 

    22 DOTS entries:

    DT.317413  DT.99933417  DT.91756533  DT.435495  DT.446632  DT.91695427  DT.100733968  DT.121036196 
    DT.121036250  DT.40115960  DT.75121397  DT.91756532  DT.95373159  DT.95373160  DT.97799687  DT.97809325 
    DT.100648578  DT.100717599  DT.101975244  DT.40271147  DT.91802986  DT.99966078 

    Selected AceView cDNA sequences (see all 231):

    CA943028 AW338297 AL710411 BQ435056 Z44574 T33394 CB216547 AI635977 
    CA427656 BC040929 BQ269596 CA396092 AI057309 AL041045 BQ932396 BX484677 
    AW338349 BM727478 BQ002362 U50078 AL044879 BX508400 F02171 BM753318 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HERC1 (see all 10)    About this scheme

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

    ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for HERC1

    (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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    HERC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATATTCATA
    HERC1 Expression
    About this image


    HERC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Gonad (Reproductive System)    fully expand to see all 2 entries
             Testis Somatic Cells Primitive Gonad
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
    HERC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HERC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.210385

    UniProtKB/Swiss-Prot: HERC1_HUMAN, Q15751
    Tissue specificity: Widely expressed

        Pathway & Disease-focused RT2 Profiler PCR Array including HERC1: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HERC1

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for HERC1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Herc11 , 5 hect (homologous to the E6-AP (UBE3A) carboxyl terminus) more1, 5 91.71(n)1
    97.32(a)1
      9 (35.86 cM)5
    2354391  NM_145617.31  NP_663592.31 
     663504505 
    chicken
    (Gallus gallus)
    Aves HERC11 HECT and RLD domain containing E3 ubiquitin protein more 82(n)
    93.06(a)
      415367  XM_004943733.1  XP_004943790.1 
    lizard
    (Anolis carolinensis)
    Reptilia HERC16
    HECT and RLD domain containing E3 ubiquitin protei...
    86(a)
    1 ↔ 1
    GL343573.1(24327-75047)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.95842 Xenopus laevis transcribed sequence with strong similarity more 78.91(n)    CB180530.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5696031 probable E3 ubiquitin-protein ligase HERC1-like 71.68(n)
    81.81(a)
      569603  XM_692999.4  XP_698091.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta HERC26
    HERC2
    20(a)
    1 → many
    X(20265505-20283274)


    ENSEMBL Gene Tree for HERC1 (if available)
    TreeFam Gene Tree for HERC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HERC1 gene
    HECTD42  HACE12  HECTD32  HERC22  
    5 SIMAP similar genes for HERC1 using alignment to 10 protein entries:     HERC1_HUMAN (see all proteins):
    DKFZp547P028    HERC3    SMURF2    DKFZp564H223    HUWE1

    Find genes that share paralogs with HERC1           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)
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    Selected SNPs for HERC1 (see all 4706)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1503779721,2
    --63900317(+) GCTGGC/TCTTTC 1 -- ds50010--------
    rs1141539791,2
    C,F--63900347(+) CTGCCC/TTCCCC 1 -- ds50011Minor allele frequency- T:0.14WA 118
    rs1900551441,2
    C--63900354(+) CCCCAC/TTGAGA 1 -- ds50010--------
    rs1821159861,2
    --63900395(+) CATCAC/TGTGCT 1 -- ds50010--------
    rs80240701,2
    C,F,A,H--63900519(+) AAGGAC/TGCGTG 1 -- ds500124Minor allele frequency- T:0.37NS EA NA WA CSA 2352
    rs1380670681,2
    --63900538(+) AGGGGA/CGGAGC 1 -- ds50010--------
    rs1856125021,2
    --63900575(+) CCAGGA/GTGACA 1 -- ds50010--------
    rs758943001,2
    F--63900765(+) GCCTCG/AATGGT 1 -- ds50011Minor allele frequency- A:0.08WA 118
    rs1161430181,2
    C,F--63900827(+) TTCCTG/CAATCT 1 -- ut311Minor allele frequency- C:0.08WA 118
    rs1495153221,2
    C--63900847(+) CTCTGC/TATAAG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for HERC1 (63900817 - 64126147 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for HERC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833034CNV Loss17160897
    nsv1565CNV Loss18451855
    nsv833035CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HERC1
    DNA2.0 Custom Variant and Variant Library Synthesis for HERC1

    (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: 605109    OMIM disorders: --


    Find genes that share disorders with HERC1           About GenesLikeMe

    Genetic Association Database (GAD): HERC1
    Human Genome Epidemiology (HuGE) Navigator: HERC1 (1 document)

    Export disorders for HERC1 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 HERC1 gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with HERC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. p619, a giant protein related to the chromosome condensation regulator RCC1, stimulates guanine nucleotide exchange on ARF1 and Rab proteins. (PubMed id 8861955)1, 2, 3, 9 Rosa J.L.... Barbacid M. (EMBO J. 1996)
    2. A giant protein that stimulates guanine nucleotide exchange on ARF1 and Rab proteins forms a cytosolic ternary complex with clathrin and Hsp70. (PubMed id 9233772)1, 2, 3, 9 Rosa J.L. and Barbacid M. (Oncogene 1997)
    3. The giant protein HERC1 is recruited to aluminum fluoride-induced actin-rich surface protrusions in HeLa cells. (PubMed id 14960311)1, 2, 9 Garcia-Gonzalo F.R.... Rosa J.L. (FEBS Lett. 2004)
    4. Interaction between HERC1 and M2-type pyruvate kinase. (PubMed id 12650930)1, 2, 9 Garcia-Gonzalo F.R.... Rosa J.L. (FEBS Lett. 2003)
    5. GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development. (PubMed id 21835309)1, 4 Larsson M....Medland S.E. (Am. J. Hum. Genet. 2011)
    6. HERC1 polymorphisms: population-specific variations in haplotype composition. (PubMed id 19618402)1, 4 Yuasa I....Henke J. (Cell Biochem. Funct. 2009)
    7. TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase. (PubMed id 16464865)1, 2 Chong-Kopera H.... Guan K.-L. (J. Biol. Chem. 2006)
    8. Requirement of phosphatidylinositol-4,5-bisphosphate for HERC1- mediated guanine nucleotide release from ARF proteins. (PubMed id 15642342)1, 2 Garcia-Gonzalo F.R.... Rosa J.L. (FEBS Lett. 2005)
    9. Assignment of the human P532 gene (HERC1) to chromosome 15q22 by fluorescence in situ hybridization. (PubMed id 10516438)1, 9 Cruz C....Rosa J.L. (Cytogenet. Cell Genet. 1999)
    10. E6-AP/UBE3A protein acts as a ubiquitin ligase toward SOX9 protein. (PubMed id 24155239)1 Hattori T....Yasuda H. (J. Biol. Chem. 2013)

    (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: 8925 HGNC: 4867 AceView: HERC1 Ensembl:ENSG00000103657 euGenes: HUgn8925
    ECgene: HERC1 Kegg: 8925 H-InvDB: HERC1

    (According to HUGE)
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      --

    (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 HERC1 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 HERC1 gene:
    Search GeneIP for patents involving HERC1

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



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