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HECW1 Gene

protein-coding   GIFtS: 50
GCID: GC07P043152

HECT, C2 And WW Domain Containing E3 Ubiquitin Protein Ligase...

  Search for HECW1
at  

(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, C2 And WW Domain Containing E3 Ubiquitin Protein Ligase 11 2     EC 6.3.2.-3
NEDL12 3 5     hNEDL13
KIAA03223 5     HECT, C2 And WW Domain-Containing Protein 13
E3 Ubiquitin-Protein Ligase HECW12     NEDD4-Like E3 Ubiquitin-Protein Ligase 13
HECT Type E3 Ubiquitin Ligase2     EC 6.3.28
NEDD4-Like Ubiquitin-Protein Ligase 12     

External Ids:    HGNC: 221951   Entrez Gene: 230722   Ensembl: ENSG000000027467   OMIM: 6103845   UniProtKB: Q76N893   

Export aliases for HECW1 gene to outside databases

Previous GC identifers: GC07P043125 GC07P043118


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for HECW1 Gene:
HECW1 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1) is a protein-coding gene. GO annotations related to this gene include ubiquitin-protein ligase activity. An important paralog of this gene is NEDD4L.

UniProtKB/Swiss-Prot: HECW1_HUMAN, Q76N89
Function: E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent degradation of DVL1. Also
targets the mutant SOD1 protein involved in familial amyotrophic lateral sclerosis (FALS). Forms cytotoxic
aggregates with DVL1, SSR3 and mutant SOD1 that lead to motor neuron death in FALS




(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_000007.13  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HECW1 gene promoter:
         USF1   AML1a   RREB-1   CUTL1   Egr-4   HEN1   E2F   USF-1   Pax-4a   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): HECW1 promoter sequence
   Search Chromatin IP Primers for HECW1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HECW1


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

Entrez Gene cytogenetic band: 7p13   Ensembl cytogenetic band:  7p14.1   HGNC cytogenetic band: 7p13

HECW1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HECW1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P043152:  view genomic region     (about GC identifiers)

Start:
43,152,198 bp from pter      End:
43,605,600 bp from pter
Size:
453,403 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 43,191,688-43,642,449     

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HECW1_HUMAN, Q76N89 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase HECW1  
Size: 1606 amino acids; 179554 Da
Subunit: Interacts with DVL1 and SSR3. Also interacts with mutant SOD1
Sequence caution: Sequence=BAA20780.2; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for HECW1:
3L4H (3D)    
Secondary accessions: A7E2X0 A8MYS3 O15036 Q9HCC7

Explore the universe of human proteins at neXtProt for HECW1: NX_Q76N89

Explore proteomics data for HECW1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HECW1 (Q76N89) (see all 7)
     KNKKEYI  NPYYGLF  RLLQFVTG  SCYSSSCY 


    See HECW1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001273988.1  NP_055867.3  

    ENSEMBL proteins: 
     ENSP00000379228   ENSP00000407774   ENSP00000413336  
    Reactome Protein details: Q76N89

    HECW1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for HECW1
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HECW1

     
    Search eBioscience for Proteins for HECW1 

    HECW1 Antibody Products:

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    Abcam antibodies for HECW1
    Cloud-Clone Corp. Antibodies for HECW1
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    Search LSBio for Antibodies for HECW1

    HECW1 Assay Products:

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    Cloud-Clone Corp. ELISAs for HECW1
    Cloud-Clone Corp. CLIAs for HECW1
    Search eBioscience for ELISAs for HECW1 


    (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:
     IPR000569 HECT
     IPR001202 WW_dom
     IPR000008 C2_dom

    Graphical View of Domain Structure for InterPro Entry Q76N89

    ProtoNet protein and cluster: Q76N89

    2 Blocks protein domains:
    IPB000008 C2 domain
    IPB000569 HECT domain (Ubiquitin-protein ligase)


    UniProtKB/Swiss-Prot: HECW1_HUMAN, Q76N89
    Similarity: Contains 1 C2 domain
    Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain
    Similarity: Contains 2 WW domains


    Find genes that share domains with HECW1           About GenesLikeMe


    (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,
    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: HECW1_HUMAN, Q76N89
    Function: E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent degradation of DVL1. Also
    targets the mutant SOD1 protein involved in familial amyotrophic lateral sclerosis (FALS). Forms cytotoxic
    aggregates with DVL1, SSR3 and mutant SOD1 that lead to motor neuron death in FALS

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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IBA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with HECW1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for HECW1:
     Synthetic lethal with cisplati  Upregulation of NF-kappaB path  Upregulation of Wnt/beta-caten 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HECW1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HECW1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HECW1

    miRNA
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    Block miRNA regulation of human, mouse, rat HECW1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HECW1 (see all 20):
    hsa-miR-30c hsa-miR-448 hsa-miR-202 hsa-miR-25 hsa-miR-30d hsa-miR-1184 hsa-miR-30a hsa-miR-556-3p
    SwitchGear 3'UTR luciferase reporter plasmidHECW1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HECW1
    Predesigned siRNA for gene silencing in human, mouse, rat HECW1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HECW1

    Clone
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    OriGene clones in human, mouse for HECW1 (see all 6)
    OriGene ORF clones in mouse, rat for HECW1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HECW1 (NM_015052)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HECW1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HECW1
    Addgene plasmids for HECW1 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for HECW1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HECW1


    (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
    HECW1_HUMAN, Q76N89: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with HECW1           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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    Find genes that share SuperPaths with HECW1           About GenesLikeMe

    Pathways by sourceSee SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for HECW1
        SMAD Signaling Network
    Ubiquitin-Proteasome Dependent Proteolysis

    1 Reactome Pathway for HECW1
        degradation of DVL


    UniProtKB/Swiss-Prot: HECW1_HUMAN, Q76N89
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HECW1: 

              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for HECW1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HECW1 (Q76N892, 3 ENSP000003792284) via UniProtKB, MINT, STRING, and/or I2D (see all 92)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2870362 I2D: score=3 STRING: ENSP00000344782
    USP7Q930092, 3, ENSP000003435354MINT-2870381 I2D: score=3 STRING: ENSP00000343535
    SCNN1AP370883, ENSP000002289164I2D: score=1 STRING: ENSP00000228916
    SCNN1BP511683, ENSP000003457514I2D: score=1 STRING: ENSP00000345751
    SOD1P004413, ENSP000002701424I2D: score=1 STRING: ENSP00000270142
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA--

    Find genes that share ontologies with HECW1           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 HECW1



    (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 HECW1 gene (2 alternative transcripts): 
    NM_001287059.1  NM_015052.4  

    Unigene Cluster for HECW1:

    HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1
    Hs.164453  [show with all ESTs]
    Unigene Representative Sequence: BC151227
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000395891(uc003tid.1 uc011kbi.1) ENST00000490954 ENST00000453890
    ENST00000492310 ENST00000471527 ENST00000493057 ENST00000464944 ENST00000481031
    ENST00000471043(uc003tie.1) ENST00000461842 ENST00000429529
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HECW1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HECW1 (see all 20):
    hsa-miR-30c hsa-miR-448 hsa-miR-202 hsa-miR-25 hsa-miR-30d hsa-miR-1184 hsa-miR-30a hsa-miR-556-3p
    SwitchGear 3'UTR luciferase reporter plasmidHECW1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HECW1
    Predesigned siRNA for gene silencing in human, mouse, rat HECW1
    Clone
    Products:
         
    OriGene clones in human, mouse for HECW1 (see all 6)
    OriGene ORF clones in mouse, rat for HECW1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HECW1 (NM_015052)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HECW1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HECW1
    Addgene plasmids for HECW1 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for HECW1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HECW1
      QuantiTect SYBR Green Assays in human, mouse, rat HECW1
      QuantiFast Probe-based Assays in human, mouse, rat HECW1

    Additional mRNA sequence: 

    AB002320.2 AB048365.1 AK022679.1 AK090799.1 AK294918.1 BC151227.1 

    7 DOTS entries:

    DT.209806  DT.100009432  DT.75118674  DT.207947  DT.40293888  DT.92419450  DT.99934225 

    1 AceView cDNA sequence:

    AL079731 

    GeneLoc Exon Structure


    (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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    HECW1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HECW1 Expression
    About this image


    HECW1 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
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
    HECW1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HECW1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.164453

    UniProtKB/Swiss-Prot: HECW1_HUMAN, Q76N89
    Tissue specificity: Predominantly expressed in neurons of adult and fetal brain. Weakly expressed in the kidney

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HECW1: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for HECW1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HECW1
    QuantiTect SYBR Green Assays in human, mouse, rat HECW1
    QuantiFast Probe-based Assays in human, mouse, rat HECW1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HECW1

    (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 animals.

    Orthologs for HECW1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hecw11 , 5 HECT, C2 and WW domain containing E3 ubiquitin protein more1, 5 85.06(n)1
    88.98(a)1
      13 (5.29 cM)5
    942531  NM_001081348.31  NP_001074817.31 
     142264385 
    chicken
    (Gallus gallus)
    Aves HECW11 HECT, C2 and WW domain containing E3 ubiquitin protein more 75.96(n)
    82.66(a)
      420774  XM_004939591.1  XP_004939648.1 
    lizard
    (Anolis carolinensis)
    Reptilia HECW16
    HECT, C2 and WW domain containing E3 ubiquitin pro...
    80(a)
    1 ↔ 1
    6(50595885-50805059)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia hecw11 HECT, C2 and WW domain containing E3 ubiquitin protein more 70.51(n)
    79.82(a)
      100170498  NM_001130278.1  NP_001123750.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hecw1b1 HECT, C2 and WW domain containing E3 ubiquitin protein more 68.82(n)
    74.3(a)
      563730  NM_001145764.1  NP_001139236.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG427976
    --
    40(a)
    1 → many
    X(9502979-9517276)
    worm
    (Caenorhabditis elegans)
    Secernentea hecw-16
    Protein HECW-1 (hecw-1) mRNA, complete cds
    32(a)
    1 → many
    III(3377408-3384170) WBGene00009738


    ENSEMBL Gene Tree for HECW1 (if available)
    TreeFam Gene Tree for HECW1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HECW1 gene
    NEDD4L2  HECW22  AREL12  UBR52  WWP22  SMURF22  SMURF12  HUWE12  
    NEDD42  WWP12  ITCH2  
    Selected SIMAP similar genes for HECW1 using alignment to 3 protein entries:     HECW1_HUMAN (see all proteins) (see all similar genes):
    NEDL1    TMEM14B    DCTN5    EDRF1    AURA2    BTBD2
    FAM129C    RUFY1    UTY    LINC00596    ZNF737    CTSS
    ERBB2    FAM175A    NPLOC4    SHANK2    SLC11A2    ZNF564

    Find genes that share paralogs with HECW1           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 HECW1 (see all 8365)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs783867281,2
    F--43189944(+) GCTGCC/TATTGC 1 -- us2k11Minor allele frequency- T:0.06WA 118
    rs795071501,2
    F--43189945(+) CTGCCA/TTTGCA 1 -- us2k11Minor allele frequency- T:0.06WA 118
    rs1904965081,2
    --43190056(+) AGCAAC/TTCCTC 1 -- us2k10--------
    rs1176188091,2
    C,F--43190067(+) AGGGGA/CGGATA 1 -- us2k11Minor allele frequency- C:0.02NA 120
    rs736902511,2
    C,F--43190109(+) CCTCTG/ATGAGA 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1807609471,2
    --43190137(+) TCATCC/TCCATG 1 -- us2k10--------
    rs1176856461,2
    C,F--43190153(+) TAGAAC/TAGAGA 1 -- us2k11Minor allele frequency- T:0.02EA 120
    rs768966371,2
    C,F--43190176(+) GAGCCA/CAGTTG 1 -- us2k11Minor allele frequency- C:0.07WA 118
    rs1860131881,2
    --43190179(+) CCAAGC/TTGATG 1 -- us2k10--------
    rs1508371501,2
    --43190244(+) AATTAC/TCCTTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HECW1 (43152198 - 43402198 bp, first 250kb of HECW1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HECW1 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658966CNV Deletion23128226
    esv4590CNV Deletion18987735
    esv2597315CNV Deletion19546169
    esv2676404CNV Deletion23128226
    esv2040759CNV Deletion18987734
    esv2734315CNV Deletion23290073
    esv2664713CNV Deletion23128226
    nsv510078CNV Loss20534489
    nsv521089CNV Loss19592680
    nsv515543CNV Loss19592680

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    (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: 610384    OMIM disorders: --


    Find genes that share disorders with HECW1           About GenesLikeMe

    Genetic Association Database (GAD): HECW1

    Export disorders for HECW1 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 HECW1 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with HECW1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NEDL1, a novel ubiquitin-protein isopeptide ligase for dishevelled-1, targets mutant superoxide dismutase-1. (PubMed id 14684739)1, 2, 3, 9 Miyazaki K.... Nakagawara A. (J. Biol. Chem. 2004)
    2. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 3 Scherer S.W.... Tsui L.-C. (Science 2003)
    3. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    4. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2 Nagase T.... Ohara O. (DNA Res. 1997)
    5. A novel HECT-type E3 ubiquitin protein ligase NEDL1 enhances the p53-mediated apoptotic cell death in its catalytic activity-independent manner. (PubMed id 18223681)1, 9 Li Y....Nakagawara A. (Oncogene 2008)
    6. Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. (PubMed id 23535033)1 Sherva R....Green R.C. (amp 2014)
    7. The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition. (PubMed id 24163370)1 Lu L....Zhang L. (J. Biol. Chem. 2013)
    8. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    9. SCF(FBXL15) regulates BMP signalling by directing the degradation of HECT-type ubiquitin ligase Smurf1. (PubMed id 21572392)1 Cui Y.... Zhang L. (EMBO J. 2011)
    10. Muscle atrophy and motor neuron degeneration in human NEDL1 transgenic mice. (PubMed id 20976258)1 Zhang L....Nakagawara A. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23072 HGNC: 22195 AceView: NEDL1.1 Ensembl:ENSG00000002746 euGenes: HUgn23072
    ECgene: HECW1 H-InvDB: HECW1

    (According to HUGE)
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    HUGE: KIAA0322

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HECW1 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 HECW1 gene:
    Search GeneIP for patents involving HECW1

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



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