Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

HECW1 Gene

protein-coding   GIFtS: 50
GCID: GC07P043152

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

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

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for HECW1 Gene: 
HECW1 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1) is a protein-coding gene. Diseases associated with HECW1 include liddle syndrome, and macular degeneration. GO annotations related to this gene include ubiquitin-protein ligase activity. An important paralog of this gene is HERC1.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007819.17  NC_018918.2  NT_079592.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HECW1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
43,602,938 bp from pter
Size:
450,741 bases      Orientation:
plus strand

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

(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: 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
Subcellular location: Cytoplasm
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q76N89

  • 4/7 DME Specific Peptides for HECW1 (Q76N89) (see all 7)
     KNKKEYI  NPYYGLF  RLLQFVTG  SCYSSSCY 

    HECW1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HECW1 Protein Expression
    REFSEQ proteins: NP_055867.3  
    ENSEMBL proteins: 
     ENSP00000379228   ENSP00000407774   ENSP00000413336  

    Human Recombinant Protein Products for HECW1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for HECW1
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for HECW1
    GenScript Custom Purified and Recombinant Proteins Services for HECW1
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HECW1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    HECW1 for ontologies           About GeneDecksing



    HECW1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for HECW1
    GenScript Custom Superior Antibodies Services for HECW1
    Novus Biologicals HECW1 Antibodies
    Abcam antibodies for HECW1
    Cloud-Clone Corp. Antibodies for HECW1 
    Search ThermoFisher Antibodies for HECW1
    Search LSBio for Antibodies for HECW1 

    Assay Products for HECW1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HECW1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HECW1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HECW1 
    Cloud-Clone Corp. CLIAs for HECW1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR018029 C2_membr_targeting
     IPR000569 HECT
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR001202 WW_dom
     IPR000008 C2_Ca-dep

    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


    HECW1 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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IBA--
    GO:0005515protein binding ----
         
    HECW1 for ontologies           About GeneDecksing


    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 - Custom generated mouse model solutions for HECW1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HECW1

       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
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HECW1
    8/20 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HECW1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HECW1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HECW1
    Sirion Biotech Customized adenovirus for overexpression of HECW1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for HECW1 (see all 5)
    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

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HECW1
    Search LifeMap BioReagents cell lines for HECW1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HECW1


    (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



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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HECW1

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

    5/14 Interacting proteins for HECW1 (Q76N892, 3 ENSP000003792284) via UniProtKB, MINT, STRING, and/or I2D (see all 14)

    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 (GO ID links to tree view):    About this table

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

    HECW1 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 HECW1

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 HECW1 gene: 
    NM_015052.3  

    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:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HECW1
    8/20 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HECW1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HECW1
    Clone
    Products:
         
    OriGene clones in human, mouse for HECW1 (see all 5)
    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
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for HECW1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HECW1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HECW1
      QIAGEN 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™, 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

    HECW1 expression in normal human tissues (normalized intensities)      HECW1 embryonic expression: see
    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 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
             postcentral gyrus   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Eye (Sensory Organs)
             Retina
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...

    See HECW1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HECW1

    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

        SABiosciences Expression via Pathway-Focused 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
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HECW1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HECW1
    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for HECW1 gene from 6/13 species (see all 13)    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
    88.92(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 75.98(n)
    82.71(a)
      420774  XM_418870.3  XP_418870.3 
    lizard
    (Anolis carolinensis)
    Reptilia HECW16
    HECT, C2 and WW domain containing E3 ubiquitin pro...
    80(a)
    1 ↔ 1
    6(50595885-50805059)
    zebrafish
    (Danio rerio)
    Actinopterygii hecw11 HECT, C2 and WW domain containing E3 ubiquitin protein more 69.34(n)
    74.83(a)
      563730  NM_001145764.1  NP_001139236.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG427976
    --
    39(a)
    1 → many
    X(9502979-9517276)
    worm
    (Caenorhabditis elegans)
    Secernentea hecw-16
    Protein HECW-1
    31(a)
    1 → many
    III(3377408-3384170)


    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)
    About This Section
    Paralogs for HECW1 gene
    HERC12  NEDD4L2  HECW22  HERC22  HECTD32  WWP22  SMURF22  SMURF12  
    HUWE12  NEDD42  WWP12  ITCH2  
    18/46 SIMAP similar genes for HECW1 using alignment to 3 protein entries:     HECW1_HUMAN (see all proteins) (see all similar genes):
    NEDL1    TMEM14B    DCTN5    C10orf137    AURA2    BTBD2
    FAM129C    RUFY1    UTY    LINC00596    ZNF737    ERBB2
    FAM175A    NPLOC4    SHANK2    SLC11A2    ZNF564    FAM3A

    HECW1 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

    10/8365 SNPs in HECW1 are shown (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) 10/15 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

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing HECW1
    DNA2.0 Custom Variant and Variant Library Synthesis for HECW1

    (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: 610384    OMIM disorders: --

    6 diseases for HECW1:    About MalaCards
    liddle syndrome    macular degeneration    lateral sclerosis    amyotrophic lateral sclerosis
    ataxia    neuronitis


    HECW1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for HECW1 gene, integrated from 9 sources (see all 23):
    (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. (2004)
    2. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 3 Scherer S.W.... Tsui L.-C. (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. (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. (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. (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. (2013)
    7. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    8. SCF(FBXL15) regulates BMP signalling by directing the degradation of HECT-type ubiquitin ligase Smurf1. (PubMed id 21572392)1 Cui Y.... Zhang L. (2011)
    9. Muscle atrophy and motor neuron degeneration in human NEDL1 transgenic mice. (PubMed id 20976258)1 Zhang L....Nakagawara A. (2011)
    10. Comparison of an expanded ataxia interactome with pat ient medical records reveals a relationship between macular degeneration and at axia. (PubMed id 21078624)1 Kahle J.J....Zoghbi H.Y. (2011)

    (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: 23072 HGNC: 22195 AceView: NEDL1.1 Ensembl:ENSG00000002746 euGenes: HUgn23072
    ECgene: HECW1 H-InvDB: HECW1

    (According to HUGE)
    About This Section
    HUGE: KIAA0322

    (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 HECW1 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 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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for HECW1  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for HECW1  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for HECW1  
     OriGene qSTAR qPCR primer pairs in human, mouse for HECW1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for HECW1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for HECW1   OriGene Custom Protein Services for HECW1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HECW1
     QIAGEN SeqTarget long-range PCR primers for resequencing HECW1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HECW1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HECW1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HECW1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HECW1
     GenScript Custom Purified and Recombinant Proteins Services for HECW1 GenScript cDNA clones with any tag delivered in your preferred vector for HECW1
     GenScript Custom Assay Services for HECW1 GenScript Custom Superior Antibodies Services for HECW1
     GenScript Custom overexpressing Cell Line Services for HECW1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in HECW1 promoter
     Search Chromatin IP Primers for HECW1
     RT2 qPCR Primer Assay in human, mouse, rat HECW1
     Search GNC Networks for HECW1
     SABiosciences PCR Arrays including human, mouse, rat HECW1
     Search Tocris compounds for HECW1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     HECW1 antibodies
     Antibodies for HECW1
     See all of Abcam's Antibodies, Kits and Proteins for HECW1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for HECW1
     Antibodies for HECW1
     ELISAs for HECW1
     CLIAs for HECW1
     Search LifeMap BioReagents cell lines for HECW1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HECW1
     SwitchGear 3'UTR luciferase reporter plasmids for HECW1
     SwitchGear Promoter luciferase reporter plasmids for HECW1
     Search ThermoFisher Antibodies for HECW1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HECW1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for HECW1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HECW1
    Customized:
     lentivirus for stable overexpression
     lentivirus expression plasmids for stable overexpression
     adenovirus for overexpression of HECW1
     Search LSBio for Antibodies for HECW1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      HECW1 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4