FB2024_02 , released April 23, 2024
Gene: Hsap\HTT
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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, mHTT, HTTex1

Key Links
Foreign Gene Data

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

Function

Information on product gene function for non-D. melanogaster species is no longer provided by FlyBase.

Up-to-date information on gene product function can be found by searching UniProtKB for proteins or RNAcentral for non-coding RNAs.

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
Structure
Experimentally Determined Structures
Crossreferences
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
    Testis-specificity index

    The testis specificity index was calculated from modENCODE tissue expression data by Vedelek et al., 2018 to indicate the degree of testis enrichment compared to other tissues. Scores range from -2.52 (underrepresented) to 5.2 (very high testis bias).

    NA

    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

    JBrowse - Visual display of RNA-Seq signals

    View Hsap\HTT in JBrowse
    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 ( 153 )
    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 )
      Variants
      Variant Molecular Consequences
      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 v9.1)
      Species\Gene Symbol
      Score
      Best Score
      Best Reverse Score
      Alignment
      Complementation?
      Transgene?
      Homo sapiens (Human) (0)
      Model Organism Orthologs (via DIOPT v9.1)
      Species\Gene Symbol
      Score
      Best Score
      Best Reverse Score
      Alignment
      Complementation?
      Transgene?
      Drosophila melanogaster (Fruit fly) (1)
      11 of 14
      Yes
      Yes
       
      0  
      Other Organism Orthologs (via OrthoDB)
      Data provided directly from OrthoDB:Hsap\HTT. Refer to their site for version information.
      Human Disease Associations
      FlyBase Human Disease Model Reports
      Disease Ontology (DO) Annotations
      Models Based on Experimental Evidence ( 70 )
      Allele
      Disease
      Evidence
      References
      Potential Models Based on Orthology ( 0 )
      Human Ortholog
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 42 )
      Allele
      Disease
      Interaction
      References
      is ameliorated by Wnt2O
      is exacerbated by sggUAS.cBa
      is exacerbated by sggS9A.UAS
      is ameliorated by arm3
      is ameliorated by armG0192
      is ameliorated by wg1
      is ameliorated by wgSp-1
      is ameliorated by Wnt2I
      is ameliorated by Wnt2RJ
      is ameliorated by pan3
      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 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 v36f
      is ameliorated by Sin3A08269
      is exacerbated by E(z)63
      is exacerbated by E(z)731
      is exacerbated by gppX
      is ameliorated by trr1
      is ameliorated by trr3
      is ameliorated by trx1
      is ameliorated by Jarid2MB00996
      is ameliorated by Kdm4AKG04636
      is ameliorated by Set2RNAi.UAS
      is ameliorated by Utx1
      is ameliorated by Utx2
      is exacerbated by ash122
      is exacerbated by esc5
      is exacerbated by gppXXV
      is ameliorated by Kdm2DG12810
      is ameliorated by NilHMC06011
      is exacerbated by Drp1UAS.cDa
      is exacerbated by Glut117J
      is exacerbated by TlEP1051
      is ameliorated by svrEP356
      is ameliorated by gEP514
      is ameliorated by MESR4EP386
      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 Atx2HMS01392
      is ameliorated by Atx2HMS02726
      is ameliorated by Atx2KK100423
      is ameliorated by CrebAJF02189
      is ameliorated by Fmr1GL00075
      is ameliorated by Fmr1HMS00248
      is ameliorated by ItprJF01957
      is ameliorated by PtenUAS.cUa
      is ameliorated by PykGL00099
      is ameliorated by foxoTM.UAS
      is ameliorated by foxoUAS.cUa
      is ameliorated by ktoHMS01062
      is ameliorated by nejGD8975
      is ameliorated by nejHMS01507
      is ameliorated by nejKK113191
      is ameliorated by panΔN.UAS
      is ameliorated by srlEY05931
      is ameliorated by rho-5UAS.cZa
      is exacerbated by rho-5KO1
      is ameliorated by slmbUAS.cGa
      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 eff8
      is exacerbated by skdL7062
      is exacerbated by taraEP3463
      is exacerbated by cpoEP3378
      is ameliorated by pumbem
      is ameliorated by sovKG00226
      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 exacerbated by Sin3AdQ4
      is exacerbated by Sirt1EP2300
      is ameliorated by solGD8164
      is ameliorated by SppLGD284
      is ameliorated by SppRNAi.UAS
      is ameliorated by Mmp2BG00958
      is exacerbated by solEY02771
      is ameliorated by SppLEY06831
      is ameliorated by golGD3528
      is ameliorated by Mmp202353
      is ameliorated by AblUAS.cFa
      is ameliorated by AnxB10d03410
      is ameliorated by CG8916GD3383
      is ameliorated by CenG1AMI06024
      is exacerbated by JraNIG.2275R
      is ameliorated by Nrx-1MI02579
      is exacerbated by Pkc53EGD11984
      is ameliorated by PvrGD75
      is ameliorated by SytβKK112599
      is ameliorated by cora14
      is ameliorated by dpnGFP.FPTB
      is exacerbated by maheGD17235
      is ameliorated by sifNIG.5406R
      is ameliorated by trnS064117
      is exacerbated by tsrN121
      is ameliorated by vlck01109
      is ameliorated by zldGFP.FPTB
      Disease Associations of Human Orthologs (via DIOPT v9.1 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
      Show neighbor-neighbor interactions:
      Show/hide secondary interactors 
      (data from AllianceMine provided by esyN)
      Select Layout:
      Legend:
      Protein
      RNA
      Selected Interactor(s)
      Interactions Browser

      Please see the Physical Interaction reports below for full details
      protein-protein
      Physical Interaction
      Assay
      References
      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 (73)
      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 JBrowse 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
                   
                  Cell Line Information
                  Publicly Available Cell Lines
                   
                    Other Stable Cell Lines
                     
                      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.

                      Relationship to Other Genes
                      Source for database merge of
                      Additional comments
                      Nomenclature History
                      Source for database identify of
                      Nomenclature comments
                      Etymology
                      Synonyms and Secondary IDs (22)
                      Reported As
                      Symbol Synonym
                      Hsap\HD
                      Htt
                      (Barwell et al., 2023, Sharma et al., 2023, Zsindely et al., 2023, Benoit et al., 2022, Hegde and Srivastava, 2022, Tello et al., 2022, Joy et al., 2021, Subhan and Siddique, 2021, Bolus et al., 2020, Bono-Yagüe et al., 2020, Denton et al., 2020, Joag et al., 2020, Varga 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, Daldin et al., 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
                        Study result (0)
                        Result
                        Result Type
                        Title
                        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.
                        References (305)