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HUWE1 Gene

protein-coding   GIFtS: 68
GCID: GC0XM053559

HECT, UBA And WWE Domain Containing 1, E3 Ubiquitin Protein...

(Previous names: HECT, UBA and WWE domain containing 1)
  See HUWE1-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)
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Aliases
HECT, UBA And WWE Domain Containing 1, E3 Ubiquitin Protein Ligase1 2     HSPC2722
LASU12 3 5     Ib7722
UREB12 3 5     MULE2
Homologous To E6AP Carboxyl Terminus Homologous Protein 92 3     BJ-HCC-24 Tumor Antigen2
Large Structure Of UREB12 3     E3 Ubiquitin-Protein Ligase HUWE12
Upstream Regulatory Element-Binding Protein 12 3     HECT Domain Protein LASU12
ARF-BP12 3     EC 6.3.2.-3
URE-B12 3     HectH93
ARF-Binding Protein 12 3     KIAA15783
Mcl-1 Ubiquitin Ligase E32 3     Mule3
URE-Binding Protein 12 3     HECT, UBA And WWE Domain-Containing Protein 13
KIAA03123 5     EC 6.3.28
HECT, UBA And WWE Domain Containing 11     EC 6.3.2.68
HECTH92     

External Ids:    HGNC: 308921   Entrez Gene: 100752   Ensembl: ENSG000000867587   OMIM: 3006975   UniProtKB: Q7Z6Z73   

Export aliases for HUWE1 gene to outside databases

Previous GC identifers: GC0XM053444 GC0XM053575 GC0XM050615


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HUWE1 Gene:
This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that
functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent
degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein
also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are
associated with Turner type X-linked syndromic mental retardation. (provided by RefSeq, Aug 2013)

GeneCards Summary for HUWE1 Gene:
HUWE1 (HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase) is a protein-coding gene. Diseases associated with HUWE1 include mental retardation, x-linked, syndromic, turner type, and angelman syndrome. GO annotations related to this gene include ubiquitin-protein ligase activity. An important paralog of this gene is NEDD4L.

UniProtKB/Swiss-Prot: HUWE1_HUMAN, Q7Z6Z7
Function: E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of
target proteins. Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1. Mediates
monoubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in
base-excision repair. Also ubiquitinates the p53/TP53 tumor suppressor and core histones including H1, H2A, H2B,
H3 and H4. Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural
differentiation and proliferation by catalyzing the polyubiquitination and degradation of MYCN. May regulate
abundance of CDC6 after DNA damage by polyubiquitinating and targeting CDC6 to degradation

Gene Wiki entry for HUWE1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011630.15  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HUWE1 gene promoter:
         AML1a   AP-1   Egr-1   CREB   FOXC1   FOXJ2 (long isoform)   deltaCREB   FOXJ2   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHUWE1 promoter sequence
   Search Chromatin IP Primers for HUWE1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HUWE1


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

Entrez Gene cytogenetic band: Xp11.22   Ensembl cytogenetic band:  Xp11.22   HGNC cytogenetic band: Xp11.22

HUWE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HUWE1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM053559:  view genomic region     (about GC identifiers)

Start:
53,559,057 bp from pter      End:
53,713,673 bp from pter
Size:
154,617 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., 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: HUWE1_HUMAN, Q7Z6Z7 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase HUWE1  
Size: 4374 amino acids; 481891 Da
Subunit: Interacts with isoform p14ARF of CDKN2A which strongly inhibits HUWE1 ubiquitin ligase activity.
Interacts with MYCN, POLB and CDC6
Sequence caution: Sequence=AAC62492.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAF28950.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAF28950.1;
Type=Frameshift; Positions=4356; Sequence=BAB13404.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA,
contains the C-terminal part of ATP5I; Sequence=BAC06833.1; Type=Frameshift; Positions=982, 1055;
3 PDB 3D structures from and Proteopedia for HUWE1:
2EKK (3D)        3G1N (3D)        3H1D (3D)    
Secondary accessions: O15029 Q4G2Z2 Q5H961 Q6P4D0 Q8NG67 Q9BUI0 Q9HCJ4 Q9NSL6 Q9P0A9
Alternative splicing: 3 isoforms:  Q7Z6Z7-1   Q7Z6Z7-2   Q7Z6Z7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HUWE1: NX_Q7Z6Z7

Explore proteomics data for HUWE1 at MOPED

Post-translational modifications: 

  • Phosphorylated on tyrosine; phosphorylation is probably required for its ability to inhibit TP53 transactivation
    (By similarity)1
  • Ubiquitination2 at Lys173, Lys190, Lys324, Lys342, Lys632, Lys674, Lys1050, Lys1107, Lys1111, Lys1147,
                                 Lys1225, Lys1295, Lys1470, Lys1608, Lys1643, Lys1702, Lys1713, Lys1917, Lys1926, Lys1931 (see all 42)
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HUWE1 (Q7Z6Z7) (see all 7)
     LPEGVDP  HLSYFKF  TGTSKVPL  DDLKSNTEY 


    See HUWE1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_113584.3  
    ENSEMBL proteins: 
     ENSP00000403236   ENSP00000401253   ENSP00000340648   ENSP00000218328   ENSP00000415122  
     ENSP00000413651   ENSP00000262854  
    Reactome Protein details: Q7Z6Z7

    HUWE1 Human Recombinant Protein Products:

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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for HUWE1
    GenScript Custom Purified and Recombinant Proteins Services for HUWE1
    Novus Biologicals HUWE1 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HUWE1

     
    Search eBioscience for Proteins for HUWE1 

    HUWE1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of HUWE1
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for HUWE1 
    OriGene Antibodies for HUWE1
    OriGene Custom Antibody Services for HUWE1
    Novus Biologicals HUWE1 Antibodies
    Abcam antibodies for HUWE1
    Cloud-Clone Corp. Antibodies for HUWE1
    ThermoFisher Antibodies for HUWE1
    LSBio Antibodies in human, mouse, rat for HUWE1

    HUWE1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for HUWE1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HUWE1
    Cloud-Clone Corp. CLIAs for HUWE1
    Search eBioscience for ELISAs for HUWE1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 9):
     IPR025527 DUF4414
     IPR004170 WWE-dom
     IPR010314 E3_Ub_ligase_DUF913
     IPR010309 E3_Ub_ligase_DUF908
     IPR000569 HECT

    Graphical View of Domain Structure for InterPro Entry Q7Z6Z7

    ProtoNet protein and cluster: Q7Z6Z7

    2 Blocks protein domains:
    IPB000449 Ubiquitin-associated domain
    IPB000569 HECT domain (Ubiquitin-protein ligase)


    UniProtKB/Swiss-Prot: HUWE1_HUMAN, Q7Z6Z7
    Domain: The HECT domain mediates inhibition of the transcriptional activity of p53
    Similarity: Belongs to the UPL family. TOM1/PTR1 subfamily
    Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain
    Similarity: Contains 1 UBA domain
    Similarity: Contains 1 UIM (ubiquitin-interacting motif) repeat
    Similarity: Contains 1 WWE domain


    Find genes that share domains with HUWE1           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: HUWE1_HUMAN, Q7Z6Z7
    Function: E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of
    target proteins. Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1. Mediates
    monoubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in
    base-excision repair. Also ubiquitinates the p53/TP53 tumor suppressor and core histones including H1, H2A, H2B,
    H3 and H4. Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural
    differentiation and proliferation by catalyzing the polyubiquitination and degradation of MYCN. May regulate
    abundance of CDC6 after DNA damage by polyubiquitinating and targeting CDC6 to degradation

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22 EC 6.3.2.62

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ISS--
    GO:0004842ubiquitin-protein ligase activity IDA15989957
    GO:0005488binding ----
    GO:0005515protein binding IPI15989956
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with HUWE1           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for HUWE1:
     Decreased Tat-dependent transc  Increased cell death in HCT116  Increased homologous recombina  Nucleolar pre-40S maturation d 
     Synthetic lethal with Ras 

         13 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Huwe1):
     cardiovascular system  cellular  craniofacial  embryogenesis  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     nervous system  normal  renal/urinary system 

    Find genes that share phenotypes with HUWE1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HUWE1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HUWE1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HUWE1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HUWE1

    miRNA
    Products:
        
    miRTarBase miRNAs that target HUWE1:
    hsa-mir-877-5p (MIRT037319), hsa-mir-1303 (MIRT035882), hsa-mir-877-3p (MIRT036979), hsa-mir-29a-3p (MIRT049984), hsa-mir-17-5p (MIRT050828), hsa-mir-320a (MIRT044520), hsa-mir-660-5p (MIRT039457), hsa-mir-93-3p (MIRT038776), hsa-let-7b-5p (MIRT051966), hsa-mir-181b-5p (MIRT047250), hsa-mir-29c-3p (MIRT044240), hsa-let-7a-5p (MIRT052488), hsa-mir-106b-5p (MIRT044343), hsa-mir-181a-5p (MIRT047319), hsa-mir-149-5p (MIRT045495), hsa-let-7c-5p (MIRT051832), hsa-mir-125b-5p (MIRT045992), hsa-mir-93-5p (MIRT048861), hsa-mir-193b-3p (MIRT041449), hsa-mir-424-3p (MIRT038010), hsa-mir-361-5p (MIRT044071), hsa-mir-484 (MIRT042210), hsa-mir-196a-5p (MIRT048243), hsa-mir-324-3p (MIRT042879), hsa-mir-186-5p (MIRT045042), hsa-mir-30c-2-3p (MIRT038686), hsa-mir-7-1-3p (MIRT038682), hsa-mir-34a-5p (MIRT025352)

    Block miRNA regulation of human, mouse, rat HUWE1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HUWE1 (see all 50):
    hsa-miR-579 hsa-miR-136 hsa-miR-3655 hsa-miR-3653 hsa-miR-486-3p hsa-miR-500a hsa-miR-4304 hsa-miR-3167
    SwitchGear 3'UTR luciferase reporter plasmidHUWE1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HUWE1
    Predesigned siRNA for gene silencing in human, mouse, rat HUWE1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HUWE1

    Clone
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    OriGene clones in human, mouse for HUWE1 (see all 4)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HUWE1 (NM_031407)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HUWE1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HUWE1
    Addgene plasmids for HUWE1 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for HUWE1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HUWE1


    (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
    HUWE1_HUMAN, Q7Z6Z7: Cytoplasm. Nucleus. Note=Mainly expressed in the cytoplasm of most tissues, except in the
    nucleus of spermatogonia, primary spermatocytes and neuronal cells (By similarity). Predominantly cytosolic or
    perinuclear in some colorectal carcinoma cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    plasma membrane3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with HUWE1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HUWE1 About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84
    Ubiquitin mediated proteolysis0.35
    2Inactivation of APC/C via direct inhibition of the APC/C complex
    Common schema of ubiquitination0.33
    3Validated targets of C-MYC transcriptional activation
    Validated targets of C-MYC transcriptional activation
    4Protein Stability
    Protein Stability
    5p53 pathway
    p53 pathway


    Find genes that share SuperPaths with HUWE1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for HUWE1
        Protein Stability

    2 BioSystems Pathways for HUWE1
        p53 pathway
    Validated targets of C-MYC transcriptional activation

    1 Reactome Pathway for HUWE1
        Antigen processing: Ubiquitination & Proteasome degradation


    1 Kegg Pathway  (Kegg details for HUWE1):
        Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: HUWE1_HUMAN, Q7Z6Z7
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HUWE1: 

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

    Interactions:

        GeneGlobe Interaction Network for HUWE1

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

    Selected Interacting proteins for HUWE1 (Q7Z6Z71, 2, 3 ENSP000002628544) via UniProtKB, MINT, STRING, and/or I2D (see all 753)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046371, 3, ENSP000002693054EBI-625934,EBI-366083 I2D: score=5 STRING: ENSP00000269305
    BTAF1O149812, 3, ENSP000002659904MINT-7947479 I2D: score=1 STRING: ENSP00000265990
    PSMD2Q132002, 3MINT-7230300 MINT-7947479 I2D: score=1 
    STAT3P407632, 3, ENSP000002646574MINT-7947479 I2D: score=1 STRING: ENSP00000264657
    HSP90AA1P079002, 3MINT-7947479 I2D: score=2 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IDA15989957
    GO:0006284base-excision repair IMP19713937
    GO:0006513protein monoubiquitination IDA19713937
    GO:0016574histone ubiquitination IDA15767685
    GO:0030154cell differentiation IEA--

    Find genes that share ontologies with HUWE1           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 HUWE1

    4 HMDB Compounds for HUWE1    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--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    3 Novoseek inferred chemical compound relationships for HUWE1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    auxin 26.7 1 12932326 (1)
    tyrosine 0.491 4 12907674 (1), 7968380 (1), 10966114 (1)
    oligonucleotide 0 2 7968380 (2)



    Find genes that share compounds with HUWE1           About GenesLikeMe



    (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 HUWE1 gene: 
    NM_031407.6  

    Unigene Cluster for HUWE1:

    HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
    Hs.136905  [show with all ESTs]
    Unigene Representative Sequence: NM_031407
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000426907(uc004dsq.1) ENST00000427052(uc004dsn.3) ENST00000342160
    ENST00000488459 ENST00000474971 ENST00000480438 ENST00000463852 ENST00000468322
    ENST00000474288 ENST00000218328 ENST00000489876 ENST00000424562 ENST00000471676
    ENST00000446750 ENST00000262854(uc004dsp.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat HUWE1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HUWE1 (see all 50):
    hsa-miR-579 hsa-miR-136 hsa-miR-3655 hsa-miR-3653 hsa-miR-486-3p hsa-miR-500a hsa-miR-4304 hsa-miR-3167
    SwitchGear 3'UTR luciferase reporter plasmidHUWE1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HUWE1
    Predesigned siRNA for gene silencing in human, mouse, rat HUWE1
    Clone
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    OriGene clones in human, mouse for HUWE1 (see all 4)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HUWE1 (NM_031407)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HUWE1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HUWE1
    Addgene plasmids for HUWE1 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for HUWE1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HUWE1
      QuantiTect SYBR Green Assays in human, mouse, rat HUWE1
      QuantiFast Probe-based Assays in human, mouse, rat HUWE1

    Additional mRNA sequence: 

    AB002310.3 AB071605.1 AF057569.1 AF161390.1 AK056671.1 AK091352.1 AK223167.1 AK294575.1 
    AL162050.1 AL832105.1 AY772009.1 AY929612.1 BC002602.2 BC018750.1 BC038184.1 BC063505.1 
    BC072421.1 BC107576.1 CR456813.1 DQ097177.1 

    Selected DOTS entries (see all 47):

    DT.100029764  DT.219587  DT.95140457  DT.91781905  DT.99988746  DT.87017491  DT.92474896  DT.87017492 
    DT.91661861  DT.91750987  DT.100796956  DT.435099  DT.95165381  DT.40106390  DT.100745331  DT.121315583 
    DT.95165483  DT.100745413  DT.121315458  DT.95245723  DT.121315613  DT.100014744  DT.100796961  DT.92414722 

    Selected AceView cDNA sequences (see all 869):

    BG007404 N39102 CD365178 BE045327 AX746930 CA439379 AL045586 BM477965 
    BF870682 BU156327 BX476412 BU509064 BU855169 BM552458 AA670328 CB853138 
    CA311257 BU619074 BF434420 AB071605 CD300269 AI401158 AA446730 AA404585 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HUWE1 (see all 24)    About this scheme

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

    ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34a · 34b ^ 35 ^ 36a · 36b · 36c ^ 37 ^ 38a · 38b ^ 39 ^ 40a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 40b · 40c · 40d · 40e · 40f · 40g ^ 41 ^ 42 ^ 43a · 43b ^ 44a · 44b ^ 45a · 45b ^ 46a · 46b · 46c · 46d ^ 47a · 47b · 47c ^ 48a · 48b ^ 49a · 49b · 49c ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                          -     -                           
    SP5:                                                                                                                                                            

    ExUns: 50a · 50b · 50c · 50d ^ 51 ^ 52a · 52b · 52c ^ 53a · 53b · 53c ^ 54 ^ 55 ^ 56a · 56b ^ 57a · 57b ^ 58a ·
    SP1:                                                                                                            
    SP2:                                                                                                            
    SP3:                                                                                                            
    SP4:                                      -     -     -                                               -         
    SP5:                                                                                                  -         


    ECgene alternative splicing isoforms for HUWE1

    (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)
    About This Section

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    HUWE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HUWE1 Expression
    About this image


    HUWE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    HUWE1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HUWE1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.136905

    UniProtKB/Swiss-Prot: HUWE1_HUMAN, Q7Z6Z7
    Tissue specificity: Weakly expressed in heart, brain and placenta but not in other tissues. Expressed in a number
    of cell lines, predominantly in those from colorectal carcinomas

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HUWE1: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for HUWE1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HUWE1
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    QuantiFast Probe-based Assays in human, mouse, rat HUWE1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HUWE1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HUWE1 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Huwe11 , 5 HECT, UBA and WWE domain containing 11, 5 91.99(n)1
    97.74(a)1
      X (68.46 cM)5
    590261  NM_021523.41  NP_067498.41 
     1518008075 
    lizard
    (Anolis carolinensis)
    Reptilia HUWE16
    HECT, UBA and WWE domain containing 1, E3 ubiquiti...
    89(a)
    1 ↔ 1
    1(205004174-205100906)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.71082 Xenopus laevis transcribed sequence with weak similarity more 81.56(n)    CA788838.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.188212 Transcribed sequence with strong similarity to protein more 80.32(n)    CD757656.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG81841 CG8184 51.1(n)
    45.83(a)
      32510  NM_132831.1  NP_573059.1 
    worm
    (Caenorhabditis elegans)
    Secernentea eel-16
    Protein EEL-1 (eel-1) mRNA, complete cds
    30(a)
    1 ↔ 1
    IV(3032766-3050102) WBGene00022069
    Alicante grape
    (Vitis vinifera)
    eudicotyledons Vvi.6552 Vitis vinifera transcribed sequence with moderate similarity more 72.93(n)    CB913774.1 
    rice
    (Oryza sativa)
    Liliopsida Os.78562 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.55(n)    AK073264.1 


    ENSEMBL Gene Tree for HUWE1 (if available)
    TreeFam Gene Tree for HUWE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HUWE1 gene
    NEDD4L2  HECW22  AREL12  UBR52  WWP22  SMURF22  HECW12  SMURF12  
    NEDD42  WWP12  ITCH2  
    Selected SIMAP similar genes for HUWE1 using alignment to 12 protein entries:     HUWE1_HUMAN (see all proteins) (see all similar genes):
    DKFZp564H223    ITCH    NEDD4    SMURF1    DKFZp564G092    NEDD4L
    WWP1    WWP2    SMURF2    HECW1    NEDL1    HECW2
    AREL1    UBE3A    HACE1    HECTD2    HERC4    UBE3C

    Find genes that share paralogs with HUWE1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for HUWE1
    PGOHUM00000248873


    (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)
    About This Section

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    Selected SNPs for HUWE1 (see all 2112)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs346757591,2
    C--53562883(+) TGGAG-/TTTTTT 2 -- int10--------
    rs1925901031,2
    --53573192(+) AAATGA/GCTAGC 1 -- ds50010--------
    rs1847374021,2
    --53573210(+) GCTCCA/CGGACC 1 -- ds50010--------
    rs1883245931,2
    --53573281(+) AGGGGA/TCAATC 1 -- ds50010--------
    rs1922810331,2
    --53573371(+) TTTTTA/GTTAAA 1 -- ut310--------
    rs128417601,2
    C,H--53573413(+) AGTCCT/CTAGAT 1 -- ut31 ese35Minor allele frequency- C:0.00NS EA NA 420
    rs1849968021,2
    --53573561(+) AGTTAA/GATTAC 1 -- ut310--------
    rs1895059631,2
    --53573777(+) CCATCA/GCCATC 1 -- ut310--------
    rs128362341,2
    C,F,H--53573953(+) GAATCC/AATCTT 1 -- ut313Minor allele frequency- A:0.08NS NA 226
    rs1811455871,2
    --53573958(+) CATCTC/TTTCTC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for HUWE1 (53559057 - 53713673 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for HUWE1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740175CNV Deletion23290073
    nsv435891CNV Deletion17901297
    nsv6910CNV Loss18451855

    Human Gene Mutation Database (HGMD): HUWE1
    Locus Specific Mutation Databases (LSDB): HUWE1

    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing HUWE1:
    Intellectual Disability
    SeqTarget long-range PCR primers for resequencing HUWE1
    DNA2.0 Custom Variant and Variant Library Synthesis for HUWE1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 300697   
    OMIM disorders: 300706  
    UniProtKB/Swiss-Prot: HUWE1_HUMAN, Q7Z6Z7
  • Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:300706]: A syndrome characterized by
    the association of mental retardation with macrocephaly and variable contractures. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Mental retardation, X-linked 17 (MRX17) [MIM:300705]: A disorder characterized by significantly below
    average general intellectual functioning associated with impairments in adaptive behavior and manifested during
    the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental
    retardation, while syndromic mental retardation presents with associated physical, neurological and/or
    psychiatric manifestations. Note=The gene represented in this entry is involved in disease pathogenesis. A
    chromosomal microduplication involving HSD17B10 and HUWE1 has been found in patients with mental retardation

  • 2 diseases for HUWE1:    
    About MalaCards
    mental retardation, x-linked, syndromic, turner type    angelman syndrome


    Find genes that share disorders with HUWE1           About GenesLikeMe

    6 Novoseek inferred disease relationships for HUWE1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    parkinsonism juvenile autosomal recessive 80.3 1 16332688 (1)
    angelman syndrome 54.5 1 10558980 (1)
    tumors 21.3 6 15989956 (3), 19857530 (1), 10558980 (1), 15950904 (1)
    neurological disorders 10.3 1 10558980 (1)
    parkinson disease 0 1 19725078 (1)
    cancer 0 1 18723490 (1)

    Genetic Association Database (GAD): HUWE1
    Human Genome Epidemiology (HuGE) Navigator: HUWE1 (3 documents)

    Export disorders for HUWE1 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

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    PubMed articles for HUWE1 gene, integrated from 10 sources (see all 200):
    (articles sorted by number of sources associating them with HUWE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 3 Nagase T.... Ohara O. (DNA Res. 1997)
    2. Mule/ARF-BP1, a BH3-only E3 ubiquitin ligase, catalyzes the polyubiquitination of Mcl-1 and regulates apoptosis. (PubMed id 15989957)1, 2, 9 Zhong Q.... Wang X. (Cell 2005)
    3. ARF-BP1/Mule is a critical mediator of the ARF tumor suppressor. (PubMed id 15989956)1, 2, 9 Chen D.... Gu W. (Cell 2005)
    4. Ubiquitin ligase ARF-BP1/Mule modulates base excision repair. (PubMed id 19713937)1, 2 Parsons J.L....Dianov G.L. (EMBO J. 2009)
    5. The HECT-domain ubiquitin ligase Huwe1 controls neural differentiation and proliferation by destabilizing the N-Myc oncoprotein. (PubMed id 18488021)1, 2 Zhao X.... Lasorella A. (Nat. Cell Biol. 2008)
    6. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. (PubMed id 18252223)1, 2 Froyen G.... Gecz J. (Am. J. Hum. Genet. 2008)
    7. Cdc6 stability is regulated by the Huwe1 ubiquitin ligase after DNA damage. (PubMed id 17567951)1, 2 Hall J.R....Cook J.G. (Mol. Biol. Cell 2007)
    8. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    10. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10075 HGNC: 30892 AceView: UREB1 Ensembl:ENSG00000086758 euGenes: HUgn10075
    ECgene: HUWE1 Kegg: 10075 H-InvDB: HUWE1

    (According to HUGE)
    About This Section

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    HUGE: KIAA0312 KIAA1578

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HUWE1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HUWE1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HUWE1 gene:
    Search GeneIP for patents involving HUWE1

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HUWE1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HUWE1
     LSBio Antibodies in human, mouse, rat for HUWE1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Addgene plasmids for HUWE1
      Search eBioscience for proteins for HUWE1
      Search eBioscience for elisas for HUWE1
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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