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General Information
Symbol
Hsap\ATXN1
Species
H. sapiens
Name
ataxin 1
Annotation Symbol
Feature Type
FlyBase ID
FBgn0026422
Gene Model Status
Stock Availability
Also Known As
SCA1, ATXN1, spinocerebellar ataxia type 1, ATX1
Tag or Foreign Gene Data
Foreign sequence; species == Homo sapiens; gene == ATXN1; HGNC:10548.
Function
GO Summary Ribbons
Protein Family (UniProt)
-
Protein Signatures (InterPro)
    -
    Molecular Function (GO)
    [Detailed GO annotations]
    Experimental Evidence
    -
    Predictions / Assertions
    -
    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\ATXN1 using the Feature Mapper tool.

      External Data
      Crossreferences
      Linkouts
      Gene Ontology (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)
      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\ATXN1 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 ( 7 )
      For All Alleles Carried on Transgenic Constructs Show
      Transgenic constructs containing/affecting coding region of Hsap\ATXN1
      Transgenic constructs containing regulatory region of Hsap\ATXN1
      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
      interneuron & axon, with Scer\GAL4VNC.ap
      interneuron & cell body, with Scer\GAL4VNC.ap
      Orthologs
      Human Orthologs (via DIOPT v7.1)
      Homo sapiens (Human) (0)
      No records found.
      Model Organism Orthologs (via DIOPT v7.1)
      Drosophila melanogaster (Fruit fly) (1)
      Species\Gene Symbol
      Score
      Best Score
      Best Reverse Score
      Alignment
      Complementation?
      Transgene?
      7 of 15
      Yes
      Yes
       
      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 ( 4 )
      Potential Models Based on Orthology ( 0 )
      Human Ortholog
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 5 )
      Allele
      Disease
      Interaction
      References
      is exacerbated by NmnatUAS.PC
      is ameliorated by NmnatUAS.PD
      is ameliorated by Akt104226
      is ameliorated by WnkKK102654
      is ameliorated by AdukKK102129
      is ameliorated by SdrKK104654
      is ameliorated by BubR1DN.UAS
      is ameliorated by JIL-1KK101300
      is ameliorated by JIL-1KG08229
      is ameliorated by Dsor1G79
      is ameliorated by licKK108550
      is ameliorated by FntaKK100303
      is ameliorated by rl1
      is ameliorated by drkKG03077
      is ameliorated by SosKG10074
      is ameliorated by Ras85D06677
      is ameliorated by Ras64BGD1517
      is ameliorated by RafKK100982
      is ameliorated by Spf45J23
      is ameliorated by DnaJ-1EP411
      is exacerbated by Sin3AdQ4
      is exacerbated by skdL7062
      is exacerbated by GstS106253
      is ameliorated by vibEP513
      is exacerbated by eff8
      is exacerbated by taraEP3463
      is exacerbated by cpoEP3378
      is exacerbated by Sirt1EP2300
      is exacerbated by pumEP3461
      is ameliorated by pumbem
      is ameliorated by 14-3-3εex4
      is ameliorated by ps3
      is exacerbated by HDAC104556
      is exacerbated by CtBP03463
      is exacerbated by Diap14
      is exacerbated by Sc205634
      is ameliorated by psj449
      is ameliorated by Akt104226
      is ameliorated by mubEP3623
      is exacerbated by mub04093
      is ameliorated by vibEP651
      is exacerbated by sovKG00226
      is ameliorated by sovKG00226
      is exacerbated by Hsap\NLKUAS.cJa
      is ameliorated by nmoadk2
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease Associations of Human Orthologs (via DIOPT v7.1 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.
      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
      Gene Group - Pathway Membership (FlyBase)
      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 (4)
      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 sequences
        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 identity of: Hsap\ATXN1 Hsap\ATX1
                  Source for database merge of
                  Additional comments
                  Other Comments
                  Origin and Etymology
                  Discoverer
                  Etymology
                  Identification
                  External Crossreferences and Linkouts ( 4 )
                  Synonyms and Secondary IDs (22)
                  Reported As
                  Name Synonyms
                  spinocerebellar ataxia 1
                  spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)
                  spinocerebellar ataxia type 1
                  Secondary FlyBase IDs
                    Datasets (0)
                    Study focus (0)
                    Experimental Role
                    Project
                    Project Type
                    Title
                    References (51)