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ATXN1 Gene

protein-coding   GIFtS: 59
GCID: GC06M016299

Ataxin 1

(Previous names: spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1,...)
(Previous symbol: SCA1)
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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)
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Aliases
Ataxin 11 2     Spinocerebellar Ataxia 1 (Olivopontocerebellar Ataxia 1, Autosomal
Dominant, Ataxin 1)1
SCA11 2 3 5     D6S504E2
ATX12 3 5     Alternative Ataxin12
Spinocerebellar Ataxia Type 1 Protein2 3     ataxin-12

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 familial transthyretin amyloidosis. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_007592.16  
Regulatory elements:
   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 Chromatin IP Primers for ATXN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
Miscellaneous: Self-association seems to be necessary for formation of nuclear aggregates which are associated
with pathogenesis
6 PDB 3D structures from and Proteopedia for ATXN1:
1OA8 (3D)        2M41 (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: 

  • Phosphorylation at Ser-775 increases the pathogenicity of proteins with an expanded polyglutamine tract1
  • Sumoylation is dependent on nuclear localization and phosphorylation at Ser-775. It is reduced in the presence of
    an expanded polyglutamine tract1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ATXN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000244769   ENSP00000416360  

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    Cloud-Clone Corp. ELISAs for ATXN1
    Cloud-Clone Corp. CLIAs for ATXN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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/body  homeostasis/metabolism  mortality/aging  muscle 
     nervous system  respiratory system  skeleton 

    ATXN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Atxn1tm1Zuk for ATXN1

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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATXN1

    miRNA
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    miRTarBase miRNAs that target ATXN1:
    hsa-mir-92a-3p (MIRT049418), hsa-mir-93-5p (MIRT028021), hsa-mir-221-3p (MIRT024202), hsa-mir-335-5p (MIRT017816), hsa-mir-125a-5p (MIRT021312), hsa-mir-19a-3p (MIRT003781), hsa-mir-186-5p (MIRT021200), hsa-mir-130a-3p (MIRT003782), hsa-mir-340-5p (MIRT019623), hsa-mir-19b-3p (MIRT003780), hsa-mir-877-3p (MIRT037002), hsa-mir-32-5p (MIRT028352), hsa-mir-125b-5p (MIRT005007), hsa-mir-96-5p (MIRT027935), hsa-mir-320a (MIRT044625), hsa-mir-590-3p (MIRT016225), hsa-mir-101-3p (MIRT000379)

    Block miRNA regulation of human, mouse, rat ATXN1 using miScript Target Protectors
    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat ATXN1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): ATXN1 (NM_000332)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATXN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATXN1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ATX1_HUMAN, P54253: Cytoplasm (By similarity). Nucleus. Note=Colocalizes with USP7 in the nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (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


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ATXN1 About    
    See pathways by source

    SuperPathContained pathways About
    1Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ATXN1
        Akt Signaling
    Parkinson's Disease Pathway

    1 Cell Signaling Technology (CST) Pathway for ATXN1
        Neuroscience



    ATXN1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATXN1
    Interactions:

        GeneGlobe Interaction Network for ATXN1

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

    Selected Interacting proteins for ATXN1 (P542531, 2, 3 ENSP000002447694) via UniProtKB, MINT, STRING, and/or I2D (see all 274)
    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): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated 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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    ATXN1 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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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    Selected qRT-PCR 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*
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      QuantiTect SYBR Green Assays in human, mouse, rat ATXN1
      QuantiFast Probe-based Assays in human, mouse, rat ATXN1

    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 

    Selected AceView cDNA sequences (see all 199):

    AW439429 CK300399 BX505133 AI333951 AA978040 AA677182 BF516250 AW612517 
    BF222542 AI093953 AL599289 BE047876 AI888369 NM_000332 Z40940 BU682892 
    AW662381 AI857903 AA554745 BE220425 N24745 CA394528 CA309074 BM825767 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATXN1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 5) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Cardiomyocyte progenitor cells
     
     Testis (Reproductive System)
             Pre-Sertoli Cells Testis Cord
     
     Adipose (Muscoskeletal System)
             Lateral Plate Mesechymal Stem Cells Lateral Plate Mesoderm
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             Lateral Plate Mesechymal Stem Cells Lateral Plate Mesoderm
     
     Uterus (Reproductive System)
    ATXN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATXN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.434961

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

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ATXN1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atxn11 , 5 ataxin 11, 5 86.24(n)1
    89.62(a)1
      13 (21.98 cM)5
    202381  NM_001199305.11  NP_001186234.11 
     455497585 
    chicken
    (Gallus gallus)
    Aves ATXN11 ataxin 1 80.14(n)
    82.11(a)
      420843  XM_003640755.2  XP_003640803.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATXN16
    ataxin 1
    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 60.04(n)
    55.18(a)
      557340  NM_001044826.1  NP_001038291.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Atx-16
    Ataxin 1
    31(a)
    1 → many
    X(6717237-6718236)
    worm
    (Caenorhabditis elegans)
    Secernentea K04F10.16
    Protein K04F10.1 (K04F10.1) mRNA, complete cds
    25(a)
    1 → many
    I(6364918-6366228) WBGene00019394


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    ATX1_HUMAN, P54253: 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


    Selected SNPs for ATXN1 (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
    Site Specific Mutation Identification with 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.)
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    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

  • Selected diseases for ATXN1 (see all 48):    
    About MalaCards
    spinocerebellar ataxia    familial transthyretin amyloidosis    olivopontocerebellar atrophy    transthyretin amyloidosis
    ataxia    dysphagia    spinocerebellar ataxia type 3    spinocerebellar degeneration
    spinocerebellar ataxia type 7    cerebellar ataxia    retinal degeneration    neuronal intranuclear inclusion disease
    spinal-bulbar muscular atrophy    hereditary ataxia    machado-joseph disease    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

    Selected 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)
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    PubMed articles for ATXN1 gene, integrated from 10 sources (see all 203):
    (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. (Nature 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. (J. Biol. Chem. 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. (Neurol. Neurochir. Pol. 2008)
    4. The structure of the AXH domain of spinocerebellar ataxin-1. (PubMed id 14583607)1, 2, 9 Chen Y.W.... Bycroft M. (J. Biol. Chem. 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. (Hum. Mol. Genet. 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. (Arch. Neurol. 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. (Hum. Mol. Genet. 1995)
    8. Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway. (PubMed id 21475249)1, 2 Tong X....Tsai C.C. (EMBO Rep. 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. (Mol. Med. 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. (J. Alzheimers Dis. 2010)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ATXN1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATXN1[genesymbol]
    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.)
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    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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