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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATXN1 Gene

protein-coding   GIFtS: 60
GCID: GC06M016299

Ataxin 1

(Previous names: spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1,...)
(Previous symbol: SCA1)
Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ataxin 11 2     Spinocerebellar Ataxia 1 (Olivopontocerebellar Ataxia 1, Autosomal
Dominant, Ataxin 1)1
SCA11 2 3 5     D6S504E2
ATX12 3 5     ataxin-12
Spinocerebellar Ataxia Type 1 Protein2 3     

External Ids:    HGNC: 105481   Entrez Gene: 63102   Ensembl: ENSG000001247887   OMIM: 6015565   UniProtKB: P542533   

Export aliases for ATXN1 gene to outside databases

Previous GC identifer: GC06M016408


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATXN1 Gene:
The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders
characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has
been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci,
designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII,
which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar
syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain
CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated
polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually
increasing in size when transmitted to successive generations. The function of the ataxins is not known. This
locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG
repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At
least two transcript variants encoding the same protein have been found for this gene. (provided by RefSeq, Jan
2010)

GeneCards Summary for ATXN1 Gene: 
ATXN1 (ataxin 1) is a protein-coding gene. Diseases associated with ATXN1 include spinocerebellar ataxia, and olivopontocerebellar atrophy. GO annotations related to this gene include protein self-association and identical protein binding. An important paralog of this gene is ATXN1L.

UniProtKB/Swiss-Prot: ATX1_HUMAN, P54253
Function: Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by
acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated
repression. Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine tract may
alter this function

Gene Wiki entry for ATXN1 (Ataxin 1) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATXN1 gene promoter:
         FOXI1   TBP   Sp1   MyoD   CUTL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ATXN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATXN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN1


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

Entrez Gene cytogenetic band: 6p23   Ensembl cytogenetic band:  6p22.3   HGNC cytogenetic band: 6p23

ATXN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATXN1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M016299:  view genomic region     (about GC identifiers)

Start:
16,299,343 bp from pter      End:
16,761,722 bp from pter
Size:
462,380 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ATX1_HUMAN, P54253 (See protein sequence)
Recommended Name: Ataxin-1  
Size: 815 amino acids; 86923 Da
Subunit: Homooligomer. Interacts with CIC (By similarity). Interacts with ANP32A, PQBP1, UBQLN4, ATXN1L, USP7 and
ZNF804A. Directly interacts with RBPJ; this interaction is disrupted in the presence of Notch intracellular
domain. Competes with ATXN1L for RBPJ-binding
Subcellular location: Cytoplasm (By similarity). Nucleus. Note=Colocalizes with USP7 in the nucleus
Miscellaneous: Self-association seems to be necessary for formation of nuclear aggregates which are associated
with pathogenesis
5 PDB 3D structures from and Proteopedia for ATXN1:
1OA8 (3D)        4APT (3D)        4AQP (3D)        4J2J (3D)        4J2L (3D)    
Secondary accessions: Q17S02 Q9UJG2 Q9Y4J1
Alternative splicing: 1 isoform:  P54253-1   

Explore the universe of human proteins at neXtProt for ATXN1: NX_P54253

Explore proteomics data for ATXN1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation at Ser-775 increases the pathogenicity of proteins with an expanded polyglutamine tract
  • UniProtKB: Sumoylation is dependent on nuclear localization and phosphorylation at Ser-775. It is reduced in the presence of
    an expanded polyglutamine tract
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P54253

  • ATXN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATXN1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000323.2  NP_001121636.1  

    ENSEMBL proteins: 
     ENSP00000244769   ENSP00000416360  

    Human Recombinant Protein Products for ATXN1: 
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    Browse Sino Biological Recombinant Proteins
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    Cloud-Clone Corp. Proteins for ATXN1 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm IDA12757932
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0016363nuclear matrix IDA17557114

    ATXN1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ATXN: Ataxins

    3 InterPro protein domains:
     IPR020997 Capicua_tscrpt_rep_mod
     IPR013723 Ataxin-1_HBP1
     IPR003652 Ataxin_AXH_dom

    Graphical View of Domain Structure for InterPro Entry P54253

    ProtoNet protein and cluster: P54253

    1 Blocks protein domain: IPB003652 Ataxin-containing protein

    UniProtKB/Swiss-Prot: ATX1_HUMAN, P54253
    Domain: The AXH domain is required for interaction with CIC (By similarity)
    Similarity: Belongs to the ATXN1 family
    Similarity: Contains 1 AXH domain


    ATXN1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATX1_HUMAN, P54253
    Function: Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by
    acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated
    repression. Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine tract may
    alter this function

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003723RNA binding ----
    GO:0005515protein binding IPI11001934
    GO:0008022protein C-terminus binding IPI12757932
    GO:0008266poly(U) RNA binding IDA11136710
         
    ATXN1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ATXN1:
     Small cells 

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Atxn1):
     behavior/neurological  growth/size  homeostasis/metabolism  mortality/aging  muscle 
     nervous system  respiratory system  skeleton 

    ATXN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Atxn1tm1Zuk for ATXN1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ATXN1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATXN1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATXN1 

    miRNA
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    miRTarBase miRNAs that target ATXN1:
    hsa-mir-19b (MIRT003780), hsa-mir-101 (MIRT000379), hsa-mir-130a (MIRT003782), hsa-mir-125b (MIRT005007), hsa-mir-19a (MIRT003781)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATXN1
    8/172 QIAGEN miScript miRNA Assays for microRNAs that regulate ATXN1 (see all 172):
    hsa-miR-411* hsa-miR-579 hsa-miR-193a-3p hsa-miR-1321 hsa-miR-520f hsa-miR-106a hsa-miR-605 hsa-miR-138-2*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATXN1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ATXN1
        Neuroscience



    ATXN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATXN1

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

    5/270 Interacting proteins for ATXN1 (P542531, 2, 3 ENSP000002447694) via UniProtKB, MINT, STRING, and/or I2D (see all 270)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000225748P486341, 2, 3, ENSP000003874774EBI-930964,EBI-347545 MINT-2864423 MINT-2856362 MINT-2864404 MINT-2864442 I2D: score=3 STRING: ENSP00000387477
    ENSG00000206427P486341, 2, 3EBI-930964,EBI-347545 MINT-2864423 MINT-2856362 MINT-2864404 MINT-2864442 I2D: score=3 
    ENSG00000225164P486341, 2, 3EBI-930964,EBI-347545 MINT-2864423 MINT-2856362 MINT-2864404 MINT-2864442 I2D: score=3 
    ENSG00000226618P486341, 2, 3EBI-930964,EBI-347545 MINT-2864423 MINT-2856362 MINT-2864404 MINT-2864442 I2D: score=3 
    ENSG00000231370P486341, 2, 3EBI-930964,EBI-347545 MINT-2864423 MINT-2856362 MINT-2864404 MINT-2864442 I2D: score=3 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006396RNA processing NAS15615787
    GO:0008219cell death IEA--
    GO:0008344adult locomotory behavior IEA--
    GO:0008542visual learning IEA--

    ATXN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ATXN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ATXN1 (ATX1)

    2 Novoseek inferred chemical compound relationships for ATXN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamine 83.8 79 15750336 (5), 7614095 (3), 18337722 (3), 12893274 (3) (see all 43)
    testosterone 0 2 10717003 (1), 11356158 (1)

    Search CenterWatch for drugs/clinical trials and news about ATXN1 / ATX1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ATXN1 gene (2 alternative transcripts): 
    NM_000332.3  NM_001128164.1  

    Unigene Cluster for ATXN1:

    Ataxin 1
    Hs.434961  [show with all ESTs]
    Unigene Representative Sequence: X79204
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000244769 ENST00000483591(uc003nbu.1) ENST00000473388 ENST00000495178
    ENST00000483954 ENST00000467008 ENST00000498374(uc003nbw.1) ENST00000492857
    ENST00000479680 ENST00000436367(uc010jpi.3 uc010jpj.1)

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    8/172 QIAGEN miScript miRNA Assays for microRNAs that regulate ATXN1 (see all 172):
    hsa-miR-411* hsa-miR-579 hsa-miR-193a-3p hsa-miR-1321 hsa-miR-520f hsa-miR-106a hsa-miR-605 hsa-miR-138-2*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Additional mRNA sequence: 

    AK311274.1 AK311649.1 BC010948.1 BC011026.1 BC014548.1 BC029401.1 BC039236.1 BC047894.1 
    BC063120.1 BC092446.1 BC113081.1 BC113082.1 BC117125.1 JX901140.1 X79204.1 

    14 DOTS entries:

    DT.447570  DT.91820821  DT.121363145  DT.95265243  DT.91855863  DT.100692863  DT.95174806  DT.100691198 
    DT.202856  DT.95174805  DT.121363083  DT.91802425  DT.99942744  DT.95089085 

    24/199 AceView cDNA sequences (see all 199):

    AA677182 BF516250 AW612517 BF222542 AI093953 AL599289 BE047876 AI888369 
    NM_000332 Z40940 BU682892 AW662381 AI857903 AA554745 BE220425 N24745 
    CA394528 CA309074 BM825767 AI701157 AI040511 CA447014 AA251286 AW235612 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ATXN1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8
    SP1:                                                                  
    SP2:                                -     -                           
    SP3:              -                                                   
    SP4:                                                                  


    ECgene alternative splicing isoforms for ATXN1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATXN1 expression in normal human tissues (normalized intensities)      ATXN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCAGTACAG
    ATXN1 Expression
    About this image


    ATXN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Cardiomyocyte progenitor cells
     
     Blood (Respiratory System)    fully expand to see all 2 entries
             monocyte-derived macrophage   
     
     Lung (Respiratory System)
             alveolar macrophages   
     
     Testis (Reproductive System)
             Pre-Sertoli Cells Testis Cord
     
     Adipose (Muscoskeletal System)
             Lateral Plate Mesechymal Stem Cells Lateral Plate Mesoderm

    See ATXN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATXN1

    SOURCE GeneReport for Unigene cluster: Hs.434961

    UniProtKB/Swiss-Prot: ATX1_HUMAN, P54253
    Tissue specificity: Widely expressed throughout the body

        SABiosciences Custom PCR Arrays for ATXN1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN1

    (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

    This gene was present in the common ancestor of animals.

    Orthologs for ATXN1 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atxn11 , 5 ataxin 11, 5 86.29(n)1
    89.75(a)1
      13 (21.98 cM)5
    202381  NM_009124.61  NP_033150.21 
     455497585 
    chicken
    (Gallus gallus)
    Aves ATXN11 ataxin 1 80.44(n)
    82.75(a)
      420843  XM_003640755.1  XP_003640803.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATXN16
    Uncharacterized protein
    76(a)
    1 ↔ 1
    4(58486131-58498446)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ633568.12   -- 75.02(n)    BJ633568.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atxn1a1 ataxin 1a 59.94(n)
    54.74(a)
      557340  NM_001044826.1  NP_001038291.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Atx-16
    Ataxin 1
    29(a)
    1 → many
    X(6717237-6718236)
    worm
    (Caenorhabditis elegans)
    Secernentea K04F10.11 Protein K04F10.1 41.41(n)
    35.35(a)
      187002  NM_059436.4  NP_491837.2 


    ENSEMBL Gene Tree for ATXN1 (if available)
    TreeFam Gene Tree for ATXN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATXN1 gene
    ATXN1L2  

    ATXN1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: ATX1_HUMAN, P54253
    Polymorphism: The poly-Gln region of ATXN1 is highly polymorphic (4 to 39 repeats) in the normal population and is
    expanded to about 40-83 repeats in spinocerebellar ataxia 1 (SCA1) patients


    10/9817 SNPs in ATXN1 are shown (see all 9817)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs22372251,2
    C,F--16221628(-) GAGGCC/TGAGGC 2 -- ds50015Minor allele frequency- T:0.10EA WA 994
    rs1478405251,2
    C--16221733(+) CCACTG/TACAGA 2 -- ds50010--------
    rs1396715241,2
    --16221770(+) TAAGGA/CGTGTA 2 -- ds50010--------
    rs1878091161,2
    --16221795(+) CGAGCA/GCATGA 2 -- ds50010--------
    rs1123263151,2
    C--16221821(+) AAGACAA/-AAGTA 2 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs758377021,2
    F--16221896(+) CAGGTG/ATGGCT 2 -- ds50011Minor allele frequency- A:0.01WA 118
    rs1458168501,2
    C--16221926(+) CCTCA-/TCTC  
            
    TCTCA
    2 -- ds50010--------
    rs1919585071,2
    --16221935(+) CACACA/GTACTC 2 -- ds50010--------
    rs1425958071,2
    C--16221997(+) ACCTCC/TGACCT 2 -- ds50010--------
    rs1509818101,2
    --16222039(+) AAGGAA/GGAGGA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for ATXN1 (16299343 - 16549343 bp, first 250kb of ATXN1)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ATXN1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2731623CNV Deletion23290073
    esv2731624CNV Deletion23290073
    esv2657399CNV Deletion23128226
    esv2731625CNV Deletion23290073
    nsv5211CNV Insertion18451855
    nsv5212CNV Insertion18451855
    esv22347CNV Gain19812545
    nsv462643CNV Gain19166990


    Human Gene Mutation Database (HGMD): ATXN1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ATXN1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATXN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601556   
    OMIM disorders: 164400  
    UniProtKB/Swiss-Prot: ATX1_HUMAN, P54253
  • Spinocerebellar ataxia 1 (SCA1) [MIM:164400]: Spinocerebellar ataxia is a clinically and genetically
    heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor
    coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the
    brainstem and spinal cord. SCA1 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are
    characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy,
    ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion
    of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical
    manifestations of the disease. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 20/42 diseases for ATXN1 (see all 42):    About MalaCards
    spinocerebellar ataxia    olivopontocerebellar atrophy    ataxia    familial transthyretin amyloidosis
    transthyretin amyloidosis    spinocerebellar ataxia type 3    spinocerebellar degeneration    spinocerebellar ataxia type 7
    cerebellar ataxia    neuronal intranuclear inclusion disease    retinal degeneration    spinal-bulbar muscular atrophy
    hereditary ataxia    machado-joseph disease    dysphagia    friedreich ataxia
    multiple system atrophy    myotonic dystrophy type 1    dentatorubral-pallidoluysian atrophy    amyloidosis

    3 diseases from the University of Copenhagen DISEASES database for ATXN1:
    Spinocerebellar ataxia     dentatorubral-pallidoluysian atrophy     Huntington's disease

    ATXN1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/19 Novoseek inferred disease relationships for ATXN1 gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spinocerebellar ataxia type 1 98.4 86 10335546 (2), 8111382 (2), 10424816 (2), 9342197 (2) (see all 59)
    spinocerebellar ataxias 91.3 19 7925830 (2), 10374379 (2), 9801928 (1), 19597981 (1) (see all 14)
    drpla 84.7 25 9613852 (4), 9109985 (3), 12500681 (2), 10453742 (2) (see all 11)
    sca12 83.9 8 11914409 (1), 19235102 (1), 17420317 (1)
    spinocerebellar degenerations 82.1 8 17557114 (1), 17110325 (1), 9046258 (1), 19085187 (1) (see all 6)
    ataxias hereditary 80.7 5 17420317 (1)
    sca17 79.7 10 17650485 (2), 19235102 (2), 17420317 (1)
    machado-joseph disease 79 12 7952848 (1), 9109985 (1), 9613852 (1), 17420317 (1) (see all 7)
    neurodegenerative diseases 78.7 33 7614095 (2), 9353121 (2), 17599952 (1), 14583607 (1) (see all 21)
    neurodegeneration 64.2 11 12757707 (2), 17599952 (1), 7614095 (1), 9353121 (1) (see all 9)

    GeneTests: ATXN1
    GeneReviews: ATXN1
    Genetic Association Database (GAD): ATXN1
    Human Genome Epidemiology (HuGE) Navigator: ATXN1 (20 documents)

    Export disorders for ATXN1 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

    PubMed articles for ATXN1 gene, integrated from 9 sources (see all 201):
    (articles sorted by number of sources associating them with ATXN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. (PubMed id 9353121)1, 2, 9 Matilla A....Zoghbi H.Y. (1997)
    2. SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal. (PubMed id 15824120)1, 2, 9 Riley B.E.... Orr H.T. (2005)
    3. Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. (PubMed id 19235102)1, 4, 9 Rajkiewicz M....Zaremba J. (2008)
    4. The structure of the AXH domain of spinocerebellar ataxin-1. (PubMed id 14583607)1, 2, 9 Chen Y.W.... Bycroft M. (2004)
    5. Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein. (PubMed id 11001934)1, 2, 9 Davidson J.D....Orr H.T. (2000)
    6. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. (PubMed id 15148151)1, 4, 9 Brusco A....Taroni F. (2004)
    7. A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1. (PubMed id 8634720)1, 2, 9 Quan F.... Popovich B.W. (1995)
    8. Ataxin-1 and Brother of ataxin-1 are components of th e Notch signalling pathway. (PubMed id 21475249)1, 2 Tong X....Tsai C.C. (2011)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    10. Follow-up study of susceptibility Loci for Alzheimer' s disease and onset age identified by genome-wide association. (PubMed id 20308783)1, 4 Bettens K....Sleegers K. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6310 HGNC: 10548 AceView: ATXN1 Ensembl:ENSG00000124788 euGenes: HUgn6310
    ECgene: ATXN1 H-InvDB: ATXN1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATXN1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATXN1
    Wikipedia http://en.wikipedia.org/wiki/Ataxin_1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATXN1 gene:
    Search GeneIP for patents involving ATXN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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