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General Information
Symbol
Hsap\HTT
Species
H. sapiens
Name
huntingtin
Annotation Symbol
Feature Type
FlyBase ID
FBgn0025587
Gene Model Status
Stock Availability
Gene Summary
Contribute a Gene Snapshot for this gene.
Also Known As

Htt, HD, hHtt, HTTex1, mHTT

Key Links
Tag or Foreign Gene Data

Foreign sequence; species == Homo sapiens; gene == HTT; HGNC:4851.

Function
GO Summary Ribbons
Gene Ontology (GO) Annotations (0 terms)
Molecular Function (0 terms)
Terms Based on Experimental Evidence (0 terms)
Terms Based on Predictions or Assertions (0 terms)
Biological Process (0 terms)
Terms Based on Experimental Evidence (0 terms)
Terms Based on Predictions or Assertions (0 terms)
Cellular Component (0 terms)
Terms Based on Experimental Evidence (0 terms)
Terms Based on Predictions or Assertions (0 terms)
Gene Group (FlyBase)
Protein Family (UniProt)
-
Protein Signatures (InterPro)
    -
    Summaries
    Gene Model and Products
    Number of Transcripts
    0
    Number of Unique Polypeptides
    0
    Protein Domains (via Pfam)
    Isoform displayed:
    Pfam protein domains
    InterPro name
    classification
    start
    end
    Protein Domains (via SMART)
    Isoform displayed:
    SMART protein domains
    InterPro name
    classification
    start
    end
    Comments on Gene Model
    Sequence Ontology: Class of Gene
    Transcript Data
    Annotated Transcripts
    Additional Transcript Data and Comments
    Reported size (kB)
    Comments
    External Data
    Crossreferences
    Polypeptide Data
    Annotated Polypeptides
    Polypeptides with Identical Sequences

     

    Additional Polypeptide Data and Comments
    Reported size (kDa)
    Comments
    External Data
    Crossreferences
    Linkouts
    Sequences Consistent with the Gene Model
    Nucleotide / Polypeptide Records
      Mapped Features

      Click to get a list of regulatory features (enhancers, TFBS, etc.) and gene disruptions (point mutations, indels, etc.) within or overlapping Hsap\HTT using the Feature Mapper tool.

      External Data
      Crossreferences
      Linkouts
      Expression Data
      Expression Summary Ribbons
      Colored tiles in ribbon indicate that expression data has been curated by FlyBase for that anatomical location. Colorless tiles indicate that there is no curated data for that location.
      For complete stage-specific expression data, view the modENCODE Development RNA-Seq section under High-Throughput Expression below.
      Transcript Expression
      Additional Descriptive Data
      Marker for
       
      Subcellular Localization
      CV Term
      Polypeptide Expression
      Additional Descriptive Data
      Marker for
       
      Subcellular Localization
      CV Term
      Evidence
      References
      Expression Deduced from Reporters
      High-Throughput Expression Data
      Associated Tools

      GBrowse - Visual display of RNA-Seq signals

      View Hsap\HTT in GBrowse 2
      RNA-Seq by Region - Search RNA-Seq expression levels by exon or genomic region
      Reference
      See Gelbart and Emmert, 2013 for analysis details and data files for all genes.
      Developmental Proteome: Life Cycle
      Developmental Proteome: Embryogenesis
      External Data and Images
      Alleles, Insertions, Transgenic Constructs, and Aberrations
      Classical and Insertion Alleles ( 0 )
      For All Classical and Insertion Alleles Show
       
      Other relevant insertions
      Transgenic Constructs ( 140 )
      For All Alleles Carried on Transgenic Constructs Show
      Transgenic constructs containing/affecting coding region of Hsap\HTT
      Transgenic constructs containing regulatory region of Hsap\HTT
      Aberrations (Deficiencies and Duplications) ( 0 )
      Inferred from experimentation ( 0 )
      Inferred from location ( 0 )
        Alleles Representing Disease-Implicated Variants
        Phenotypes
        For more details about a specific phenotype click on the relevant allele symbol.
        Lethality
        Allele
        Other Phenotypes
        Allele
        Phenotype manifest in
        Allele
        Orthologs
        Human Orthologs (via DIOPT v8.0)
        Homo sapiens (Human) (0)
        No records found.
        Model Organism Orthologs (via DIOPT v8.0)
        Drosophila melanogaster (Fruit fly) (1)
        Species\Gene Symbol
        Score
        Best Score
        Best Reverse Score
        Alignment
        Complementation?
        Transgene?
        12 of 15
        Yes
        Yes
         
        0  
        Ortholog(s) in Drosophila melanogaster (via OrthoDB v9.1) ( None identified )
        No D. melanogaster orthologies identified
        Human Disease Associations
        FlyBase Human Disease Model Reports
        Disease Model Summary Ribbon
        Disease Ontology (DO) Annotations
        Models Based on Experimental Evidence ( 42 )
        Allele
        Disease
        Evidence
        References
        Potential Models Based on Orthology ( 0 )
        Human Ortholog
        Disease
        Evidence
        References
        Modifiers Based on Experimental Evidence ( 33 )
        Allele
        Disease
        Interaction
        References
        is ameliorated by armG0192
        is ameliorated by wg1
        is ameliorated by wgSp-1
        is ameliorated by Wnt2O
        is ameliorated by arm3
        is ameliorated by Wnt2I
        is ameliorated by Wnt2RJ
        is exacerbated by sggUAS.cBa
        is ameliorated by pan3
        is exacerbated by sggS9A.UAS
        is ameliorated by pan2
        is ameliorated by Apc2UAS.cUa
        is ameliorated by AxnUAS.cUa
        is ameliorated by ZwUAS.cLa
        is ameliorated by PfkUAS.cTa
        is exacerbated by jpKK107921
        is ameliorated by jpUAS
        is ameliorated by Sirt117
        is exacerbated by Sirt117
        is ameliorated by htt81aa.UAS
        is ameliorated by cd1
        is ameliorated by cn3
        is ameliorated by vKK108195
        is ameliorated by v36f
        is exacerbated by htt98E2
        is ameliorated by BmcpUAS.cBa
        is exacerbated by ATP7GD3322
        is ameliorated by PsaUAS.cSa
        is exacerbated by v36f
        is exacerbated by Drp1UAS.cDa
        is exacerbated by Glut117J
        is ameliorated by gEP514
        is ameliorated by svrEP356
        is ameliorated by MESR4EP386
        is exacerbated by TlEP1051
        is exacerbated by SNF4AγEP3015b
        is exacerbated by SNF4AγKG10152
        is ameliorated by mubEP3108
        is NOT ameliorated by Gcn5UAS.cBa
        is exacerbated by Gcn5E333st
        is exacerbated by nej3
        is NOT exacerbated by mof2
        is NOT exacerbated by enok2
        is ameliorated by arm3
        is ameliorated by Khc8
        is exacerbated by Pgi2
        is ameliorated by pnutXP
        is exacerbated by shot3
        is exacerbated by fafBX4
        is exacerbated by PginNC1
        is ameliorated by Mef2X1
        is ameliorated by Chc1
        is ameliorated by arm2
        is exacerbated by skdL7062
        is exacerbated by eff8
        is ameliorated by DnaJ-1EP411
        is exacerbated by taraEP3463
        is exacerbated by cpoEP3378
        is ameliorated by pumbem
        is ameliorated by sovKG00226
        is exacerbated by Sin3AdQ4
        is exacerbated by Sirt1EP2300
        is exacerbated by pumEP3461
        is ameliorated by 14-3-3εex4
        is exacerbated by Diap14
        is exacerbated by Akt04226
        is exacerbated by mubEP3623
        is exacerbated by vibEP651
        is exacerbated by vibEP513
        is exacerbated by sovEP1438
        is ameliorated by solGD8164
        is ameliorated by SppLGD284
        is ameliorated by Mmp2BG00958
        is ameliorated by golGD3528
        is ameliorated by Mmp202353
        is exacerbated by solEY02771
        is ameliorated by SppLEY06831
        Disease Associations of Human Orthologs (via DIOPT v8.0 and OMIM)
        Note that ortholog calls supported by only 1 or 2 algorithms (DIOPT score < 3) are not shown.
        Homo sapiens (Human)
        Gene name
        Score
        OMIM
        OMIM Phenotype
        DO term
        Complementation?
        Transgene?
        Functional Complementation Data
        Functional complementation data is computed by FlyBase using a combination of the orthology data obtained from DIOPT and OrthoDB and the allele-level genetic interaction data curated from the literature.
        Dmel gene
        Ortholog showing functional complementation
        Supporting References
        Interactions
        Summary of Physical Interactions
        esyN Network Diagram
        Interactions Browser
        Summary of Genetic Interactions
        esyN Network Diagram
        Starting gene(s)
        Interaction type
        Interacting gene(s)
        Reference
        Starting gene(s)
        Interaction type
        Interacting gene(s)
        Reference
        External Data
        Linkouts
        Pathways
        Signaling Pathways (FlyBase)
        Metabolic Pathways
        External Data
        Linkouts
        Genomic Location and Detailed Mapping Data
        Chromosome (arm)
        Recombination map
        Cytogenetic map
        Sequence location
        FlyBase Computed Cytological Location
        Cytogenetic map
        Evidence for location
        Experimentally Determined Cytological Location
        Cytogenetic map
        Notes
        References
        Experimentally Determined Recombination Data
        Location
        Left of (cM)
        Right of (cM)
        Notes
        Stocks and Reagents
        Stocks (70)
        Genomic Clones (0)
         
          cDNA Clones (0)
           

          Please Note This section lists cDNAs and ESTs that fall within the genomic extent of the gene model, which may include cDNAs and ESTs of genes within introns, or of overlapping genes. Please see GBrowse for alignment of the cDNAs and ESTs to the gene model.

          cDNA clones, fully sequenced
          BDGP DGC clones
            Other clones
              Drosophila Genomics Resource Center cDNA clones

              For each fully sequenced cDNA the DGRC maintains various forms of the cDNA (e.g tagged or untagged) in several different host vectors for subsequent cloning and expression in Drosophila and Drosophila cell lines.

                cDNA Clones, End Sequenced (ESTs)
                BDGP DGC clones
                  Other clones
                    RNAi and Array Information
                    Linkouts
                    Antibody Information
                    Laboratory Generated Antibodies
                     
                    Commercially Available Antibodies
                     
                    Other Information
                    Relationship to Other Genes
                    Source for database identify of
                    Source for database merge of
                    Additional comments
                    Other Comments

                    Expression of Hsap\YAP1 in vivo seems to play a protective role against the toxicity of mutant Hsap\HD in HD pathology.

                    A Drosophila model for Huntington's disease has been developed. The age of onset and severity of neuronal degeneration correlate with length of polyglutamine tract in the Hsap\HD protein, and nuclear accumulation of the Hsap\HD protein.

                    Origin and Etymology
                    Discoverer
                    Etymology
                    Identification
                    External Crossreferences and Linkouts ( 7 )
                    Sequence Crossreferences
                    NCBI Gene - Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
                    Synonyms and Secondary IDs (21)
                    Reported As
                    Symbol Synonym
                    Hsap\HD
                    Htt
                    (Joy et al., 2021, Bolus et al., 2020, Bono-Yagüe et al., 2020, Denton et al., 2020, Joag et al., 2020, Bason et al., 2019, Raj and Sarkar, 2019, Rodriguez-Fernandez et al., 2019, Zhu et al., 2019, Arabit et al., 2018, Coelho et al., 2018, Song et al., 2018, Yeh et al., 2018, Zhang et al., 2018, Akbergenova and Littleton, 2017, Gregory et al., 2017, Raj and Sarkar, 2017, Singh et al., 2017, Sowade and Jahn, 2017, Chongtham and Agrawal, 2016, Lewis and Smith, 2016, Weiss and Littleton, 2016, Babcock and Ganetzky, 2015, Besson et al., 2015, Heidari et al., 2015, Jimenez-Sanchez et al., 2015, Menzies et al., 2015, Poças et al., 2015, Takeuchi et al., 2015, Yao et al., 2015, Hsu et al., 2014, Sajjad et al., 2014, Singh et al., 2014, Smith et al., 2014, Fujita et al., 2013, Fujita et al., 2013, Sinadinos et al., 2013, Bodai et al., 2012, Shirasaki et al., 2012, Sontag et al., 2012, Weiss et al., 2012, Zhang et al., 2012, Campesan et al., 2011, Gohil et al., 2011, Kirilly et al., 2011, Maher et al., 2011, Richards et al., 2011, Schulte et al., 2011, Tsoi et al., 2011, Wu et al., 2011, Gonzales and Yin, 2010, Luthi-Carter et al., 2010, Nisoli et al., 2010, Rana et al., 2010, Winslow et al., 2010, Wu et al., 2010, Branco et al., 2008, Fujikake et al., 2008, Liévens et al., 2008, Mugat et al., 2008, Pallos et al., 2008, Ravikumar et al., 2008, Al-Ramahi et al., 2007, Mahoney et al., 2007, Ryoo et al., 2007, Al-Ramahi et al., 2006, Boeddrich et al., 2006, Hoshino et al., 2006, Rujano et al., 2006, Lievens et al., 2005, Warrick et al., 2005, Kazantsev et al., 2002, Kazemi-Esfarjani and Benzer, 2002, Steffan et al., 2001)
                    Secondary FlyBase IDs
                      Datasets (0)
                      Study focus (0)
                      Experimental Role
                      Project
                      Project Type
                      Title
                      References (254)