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GIFtS

HERC1 Gene

protein-coding   GIFtS: 54
GCID: GC15M063900

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

(Previous name: hect (homologous to the E6-AP (UBE3A) carboxyl terminus)...)
  Search for HERC1
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Aliases
for HERC1 gene

(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
11 2
     Guanine Nucleotide Exchange Factor P5322
P5321     Probable E3 Ubiquitin-Protein Ligase HERC12
P6191     EC 6.3.2.-3
Hect (Homologous To The E6-AP (UBE3A) Carboxyl Terminus) Domain And RCC1
(CHC1)-Like Domain (RLD) 11 2
     EC 6.3.28
HECT Domain And RCC1-Like Domain-Containing Protein 12 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


Summaries
for HERC1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_010194.17  
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 plasmid: HERC1 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

Proteins
for HERC1 gene

(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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15751

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

    HERC1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    Uscn 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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    Uscn ELISAs and CLIAs for HERC1

    Protein Domains /
    Families
    for HERC1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HERC1 for domains           About GeneDecksing

    5/11 InterPro domains/families (see all 11):
     IPR019775 WD40_repeat_CS
     IPR001870 B30.2/SPRY
     IPR009091 Reg_csome_cond/b-lactamase_inh
     IPR000569 HECT
     IPR000408 Reg_chr_condens

    Graphical View of Domain Structure for InterPro Entry Q15751

    ProtoNet protein and cluster: Q15751

    1 Blocks protein family: 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


    Function
    for HERC1 gene

    (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: 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

    miRNA
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    Gene Editing
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    Gene Ontology (GO): 3 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:0016881acid-amino acid ligase activity ----


    HERC1 for ontologies           About GeneDecksing


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

    Animal Models:
         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


    Pathways & Interactions
    for HERC1 gene

    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Antigen processing: Ubiquitination & Proteasome degradation
    		Ubiquitin mediated proteolysis0.36

    Pathway sources
    See GeneCards unified pathways
    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): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport IEA--
    GO:0016567protein ubiquitination ----


    HERC1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for HERC1 gene

    (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
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    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 

    Transcripts
    for HERC1 gene

    (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 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

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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 plasmid: HERC1 3' UTR sequence
    Inhib. RNA
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    Additional cDNA 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):

    CA943028 AY030081 AI057309 CA427656 BM800513 AW338297 F02171 BQ269596 
    BQ130027 BQ638597 AI635977 AL041046 AL041045 R39085 BQ216911 BQ002362 
    BQ883457 CA488749 AA527405 AL044879 AI743994 U50078 BG290543 BG535430 

    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

    Expression
    for HERC1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AATATTCATA

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

    HERC1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Reproductive SystemEarly GonadTestis Somatic CellsTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
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    Orthologs
    for HERC1 gene

    (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 eukaryotes.

    Orthologs for HERC1 gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 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 71.67(n)
    81.84(a)    		   569603  XM_692999.3  XP_698091.2 
    worm
    (Caenorhabditis elegans)    		 Secernentea glo-46
    		 X-linked retinitis pigmentosa GTPase regulator hom...
    		 10(a)
    		 possible ortholog
    		 V(9234601-9243141)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G270606
    AT5G608706
    (see all 11)    		 regulator of chromosome condensation-like protein
    regulator of chromosome condensation repeat-contai...
    (see all 11)    		 24(a)
    23(a)
    (see all 11)    		 possible ortholog
    possible ortholog
    (see all 11)    		 1(9395023-9396673)
    5(24485655-24487824)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 11)    		 E3 ubiquitin-protein ligase HERC2, putative, expre...
    Regulator of chromosome condensation domain contai...
    (see all 11)    		 25(a)
    21(a)
    (see all 11)    		 possible ortholog
    possible ortholog
    (see all 11)    		 9(22268621-22272199)
    1(32927993-32931748)


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

    Paralogs
    for HERC1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HERC1 gene
    HERC32  HECTD22  HERC62  RCCD12  HERC42  HECTD32  HERC22  UBE3A2  
    HERC52  
    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



    Genomic Variants
    for HERC1 gene

    (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

    10/3647 NCBI SNPs in HERC1 are shown (see all 3647)     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
    		F,--63900347(+) CTGCCC/TTCCCC 1 -- ds50011Minor allele frequency- T:0.14WA 118
    rs1900551441,2
    		--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
    		F,--63900827(+) TTCCTG/CAATCT 1 -- ut311Minor allele frequency- C:0.08WA 118
    rs1495153221,2
    		--63900847(+) CTCTGC/TATAAG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for HERC1 (63900817 - 64126147 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HERC1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HERC1
    DNA2.0 Custom Variant and Variant Library Synthesis for HERC1

    Disorders / Diseases
    for HERC1 gene

    (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
    HERC1 for disorders           About MalaCards

    HERC1 for disorders           About GeneDecksing

    OMIM gene information: 605109    OMIM disorders: --

    Human Genome Epidemiology (HuGE) Navigator: HERC1 (1 document)

    Export disorders for HERC1 gene to outside databases

    Publications
    for HERC1 gene

    (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 35):
    (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. 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)
    6. 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)
    7. 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)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    External Searches for HERC1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    Genome Databases showing HERC1 gene

    (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

    Other Databases showing HERC1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HERC1 gene

    (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

    Intellectual Property
    for HERC1 gene

    (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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