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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
Also Known As

Htt, HD, hHtt, mHTT

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, and Transgenic Constructs
      Classical and Insertion Alleles ( 0 )
      For All Classical and Insertion Alleles Show
       
      Other relevant insertions
      Transgenic Constructs ( 128 )
      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
      Deletions and Duplications ( 0 )
      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 ( 32 )
      Allele
      Disease
      Evidence
      References
      Potential Models Based on Orthology ( 0 )
      Human Ortholog
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 21 )
      Allele
      Disease
      Interaction
      References
      is ameliorated by arm3
      is ameliorated by armG0192
      is ameliorated by wg1
      is ameliorated by wgSp-1
      is ameliorated by Wnt2O
      is exacerbated by sggUAS.cBa
      is ameliorated by Wnt2I
      is ameliorated by Wnt2RJ
      is ameliorated by pan3
      is ameliorated by pan2
      is exacerbated by sggS9A.UAS
      is ameliorated by Apc2UAS.cUa
      is ameliorated by AxnUAS.cUa
      is ameliorated by ZwUAS.cLa
      is ameliorated by PfkUAS.cTa
      is ameliorated by jpUAS
      is exacerbated by jpKK107921
      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 Glut117J
      is exacerbated by Drp1UAS.cDa
      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 PginNC1
      is exacerbated by fafBX4
      is ameliorated by Mef2X1
      is ameliorated by Chc1
      is ameliorated by arm2
      is ameliorated by DnaJ-1EP411
      is exacerbated by skdL7062
      is exacerbated by eff8
      is exacerbated by cpoEP3378
      is exacerbated by taraEP3463
      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 Akt104226
      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 exacerbated by solEY02771
      is ameliorated by SppLEY06831
      is ameliorated by golGD3528
      is ameliorated by Mmp202353
      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 ( 5 )
                  Synonyms and Secondary IDs (21)
                  Reported As
                  Symbol Synonym
                  Hsap\HD
                  Htt
                  (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 (232)