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

HERC1 Gene

protein-coding   GIFtS: 56
GCID: GC15M063900

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

(Previous name: hect (homologous to the E6-AP (UBE3A) carboxyl terminus)...)
  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 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Diseases associated with HERC1 include retinitis pigmentosa, and retinitis, and among its related super-pathways are Antigen processing: Ubiquitination & Proteasome degradation. 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 NEDD4L.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HERC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Membrane; Peripheral membrane protein. Cytoplasm, cytosol. Golgi apparatus. Note=Recruited
onto actin-rich surface protrusions
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15751

  • 3 DME Specific Peptides for HERC1 (Q15751)
     GELYTWG  GQVYAWG  GDGDYGKLG 

    HERC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HERC1 Protein Expression
    REFSEQ proteins: NP_003913.3  
    ENSEMBL proteins: 
     ENSP00000390158   ENSP00000453196   ENSP00000453603   ENSP00000452671   ENSP00000452654  
     ENSP00000453937   ENSP00000453086   ENSP00000452969   ENSP00000453010  

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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HERC1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    HERC1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    WDR: WD repeat domain containing

    5/11 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


    HERC1 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: 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 (GO ID links to tree view):    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 ----
         
    HERC1 for ontologies           About GeneDecksing


    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  mortality/aging  nervous system 

    HERC1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HERC1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HERC1 
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    SwitchGear 3'UTR luciferase reporter plasmidHERC1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HERC1


    (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

    SuperPaths for HERC1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Antigen processing: Ubiquitination & Proteasome degradation
    Ubiquitin mediated proteolysis0.36

    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


    HERC1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HERC1

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

    5/10 Interacting proteins for HERC1 (Q157513 ENSP000003901584) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

    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): 5 biological process terms (GO ID links to tree view):    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:0050885neuromuscular process controlling balance IEA--

    HERC1 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 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--

    Search CenterWatch for drugs/clinical trials and news about HERC1

    (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 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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    6 QIAGEN miScript miRNA 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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    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 

    24/231 AceView cDNA sequences (see all 231):

    BQ130027 BM561783 R39085 AW338297 BQ216911 BG290543 CB216547 BM828022 
    U50078 AI635977 CK905801 AL041046 BQ932396 Z44574 AL041045 CF147464 
    AY030081 AW338349 BQ883457 BQ002362 F02171 BM727478 BQ435056 AI057309 

    GeneLoc Exon Structure

    5/10 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™, 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

    HERC1 expression in normal human tissues (normalized intensities)      HERC1 embryonic expression: see
    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 
     5/2 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

    See HERC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HERC1

    SOURCE GeneReport for Unigene cluster: Hs.210385

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

        SABiosciences Expression via Pathway-Focused 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

    This gene was present in the common ancestor of animals.

    Orthologs for HERC1 gene from 7/16 species (see all 16)    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 91.74(n)1
    97.39(a)1
      9 (35.86 cM)5
    2354391  NM_145617.31  NP_663592.31 
     663504505 
    chicken
    (Gallus gallus)
    Aves HERC11 hect (homologous to the E6-AP (UBE3A) carboxyl terminus) more 82(n)
    93.06(a)
      415367  XM_413753.3  XP_413753.2 
    lizard
    (Anolis carolinensis)
    Reptilia HERC16
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    87(a)
    29(a)
    (see all 3)
    1 ↔ 1
    possible ortholog
    (see all 3)
    GL343573.1(24327-75047)
    AAWZ02039590(3786-8203)
    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 71.67(n)
    81.84(a)
      569603  XM_692999.3  XP_698091.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta ca6
    claret
    9(a)
    possible ortholog
    3R(25632970-25640782)
    worm
    (Caenorhabditis elegans)
    Secernentea K11D2.16
    Protein K11D2.1
    20(a)
    possible ortholog
    I(12497460-12504938)


    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)
    About This Section
    Paralogs for HERC1 gene
    NEDD4L2  HECW22  HERC22  HECTD32  WWP22  HECW12  SMURF22  SMURF12  
    HUWE12  NEDD42  WWP12  ITCH2  
    5 SIMAP similar genes for HERC1 using alignment to 10 protein entries:     HERC1_HUMAN (see all proteins):
    DKFZp547P028    HERC3    SMURF2    DKFZp564H223    HUWE1

    HERC1 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

    10/4706 SNPs in HERC1 are shown (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

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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: 605109    OMIM disorders: --

    3 diseases for HERC1:    About MalaCards
    retinitis pigmentosa    retinitis    neuronitis


    HERC1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for HERC1 gene, integrated from 9 sources (see all 38):
    (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. (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. (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. (2004)
    4. Interaction between HERC1 and M2-type pyruvate kinase. (PubMed id 12650930)1, 2, 9 Garcia-Gonzalo F.R.... Rosa J.L. (2003)
    5. GWAS findings for human iris patterns: associations wi th variants in genes that influence normal neuronal pattern development. (PubMed id 21835309)1, 4 Larsson M....Medland S.E. (2011)
    6. HERC1 polymorphisms: population-specific variations i n haplotype composition. (PubMed id 19618402)1, 4 Yuasa I....Henke J. (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. (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. (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. (1999)
    10. Proteomic analysis of the NOS2 interactome in human ai rway epithelial cells. (PubMed id 23438482)1 Foster M.W....Marshall H.E. (2013)

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

    (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 HERC1 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 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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    About This Section

     
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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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