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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)
 Explore 43 diseases affiliated with
ATXN1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ATXN1    

Aliases
for ATXN1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Ataxin 11 2     Spinocerebellar Ataxia Type 1 Protein2 3
ATX11 2 3 5     Spinocerebellar Ataxia 1 (Olivopontocerebellar Ataxia 1, Autosomal Dominant,
Ataxin 1)1
SCA11 2 3 5     Ataxin-11
D6S504E1 2     

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


Summaries
for ATXN1 gene

(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:
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)

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)


Genomic Views
for ATXN1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
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

Proteins
for ATXN1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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
1 PDB 3D structure from and Proteopedia for ATXN1:
1OA8 (3D)    
Secondary accessions: Q17S02 Q9UJG2 Q9Y4J1
Alternative splicing: 1 isoform:  P54253-1   

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P54253

    • ATXN1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000244769   ENSP00000397260   ENSP00000416360  

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    Novus Biologicals ATXN1 Protein
    Novus Biologicals ATXN1 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn 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 IDA9353120


    ATXN1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ATXN1

    Protein Domains /
    Families
    for ATXN1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ATXN1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: 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


    Function
    for ATXN1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
    Products:            		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)

    OriGene 3'-UTR Clone (see all 2): ATXN1
    Browse MicroRNA Expression Plasmids
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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
    Inhib. RNA
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    OriGene shRNA RFP: ATXN1
    OriGene siRNA: ATXN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATXN1

    Gene Editing
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    Clone
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN1

    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI17110330
    GO:0008022protein C-terminus binding IPI15016912
    GO:0008266poly(U) RNA binding IDA11136710
    GO:0034046poly(G) RNA binding IDA11136710


    ATXN1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ATXN1:
     Small cells 

    Animal Models:
         Mouse knock-out Atxn1tm1Zuk for ATXN1
         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


    Pathways & Interactions
    for ATXN1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Neuroscience
    		Neuroscience1.00

    Pathway sources
    See GeneCards unified pathways
    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)

    5/258 Interacting proteins for ATXN1 (P542531, 2, 3 ENSP000002447694) via UniProtKB, MINT, STRING, and/or I2D (see all 258)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBFOX2O432511, 2, 3, ENSP000004130354EBI-930964,EBI-746056 MINT-2871171 MINT-2871190 MINT-2871209 MINT-2871228 MINT-2871247 MINT-2855267 I2D: score=3 STRING: ENSP00000413035
    CICQ96RK01, 2, 3, ENSP000001607404EBI-930964,EBI-945857 MINT-2870723 MINT-2862865 MINT-2870685 MINT-2870704 MINT-2870742 I2D: score=3 STRING: ENSP00000160740
    HIVEP1P158221, 2, 3, ENSP000003686984EBI-930964,EBI-722264 MINT-2859527 MINT-2859546 MINT-2855879 MINT-2859565 MINT-2859584 I2D: score=3 STRING: ENSP00000368698
    HSFX1Q9UBD01, 2, 3, ENSP000003594444EBI-930964,EBI-947253 MINT-2873255 MINT-2873274 MINT-2873293 I2D: score=3 STRING: ENSP00000359444
    SIX5Q8N1961, 2, 3, ENSP000003168424EBI-930964,EBI-946167 MINT-2878839 MINT-2878858 MINT-2855987 MINT-2878877 I2D: score=3 STRING: ENSP00000316842
    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



    Drugs & Compounds
    for ATXN1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    2 Novoseek 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 

    Transcripts
    for ATXN1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000244769 ENST00000483591(uc003nbu.1) ENST00000473388 ENST00000495178
    ENST00000483954 ENST00000467008 ENST00000498374(uc003nbw.1) ENST00000492857
    ENST00000479680 ENST00000450222(uc003nbt.3) ENST00000436367(uc010jpi.3 uc010jpj.1)


    miRNA
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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*
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATXN1 (see all 7)
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    Clone
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    Primer
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    Additional cDNA 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):

    BE220425 BX280048 CA447014 AA733094 Z45212 AA235132 BU686849 BU686271 
    AA773796 AA773412 AI190546 AW235612 AA554745 AI857903 N24745 AI701157 
    BM825767 AI040511 CA309074 AA251286 CA394528 BM931763 BC047894 AV658236 

    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

    Expression
    for ATXN1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCAGTACAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ATXN1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Lateral Plate MesodermLateral Plate MesodermLateral Plate Mesechymal Stem CellsAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN1

    Orthologs
    for ATXN1 gene

    (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 7/16 species (see all 16)    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
    		 --
    		 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
    		 30(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
    for ATXN1 gene

    (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



    Genomic Variants
    for ATXN1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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


    10/8373 NCBI SNPs in ATXN1 are shown (see all 8373)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs758377021,2
    		--16246432(+) CAGGTG/ATGGCT 2 -- ds50011Minor allele frequency- A:0.01WA 118
    rs10491961,2
    		H--16247405(-) ACTTGA/GTACCT 2 -- ut31 ese34Minor allele frequency- G:0.00NS EA 418
    rs31345821,2
    		H--16247605(-) TTGTTT/CACAGT 2 -- ut31 ese34Minor allele frequency- C:0.00NS EA 418
    rs1123347181,2
    		C,--16248139(+) TTACAT/CTGAAA 2 -- ut312Minor allele frequency- C:0.02NA 122
    rs796978981,2
    		--16248627(+) TTTTTA/TCAAAC 2 -- ut310--------
    rs2008561351,2
    		C--16248628(-) TGTTTA/GTAAAA 2 -- ut310--------
    rs1814473471,2
    		C,--16249174(+) AAACCA/GAATTG 2 -- ut310--------
    rs34011,2
    		C,H,--16249776(-) GGAACC/TTTTCA 2 -- ut318Minor allele frequency- T:0.01MN EA NS WA 970
    rs454963991,2
    		--16250346(+) ACATAG/TTACAG 2 -- ut310--------
    rs2000690491,2
    		C--16250571(+) TCCCCC/TCCACA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for ATXN1 (16299343 - 16549343 bp, first 250kb of ATXN1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ATXN1
         1 Indel: 69338
    Human Gene Mutation Database (HGMD): ATXN1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATXN1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATXN1

    Disorders / Diseases
    for ATXN1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ATXN1 for disorders           About GeneDecksing

    OMIM gene information: 601556   
    OMIM disorders: 164400  
    UniProtKB/Swiss-Prot: ATX1_HUMAN, P54253
  • Defects in ATXN1 are the cause of spinocerebellar ataxia type 1 (SCA1) [MIM:164400]; also known as
    • olivopontocerebellar atrophy I (OPCA I or OPCA1). 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

    20/43 diseases for ATXN1 (see all 43):    About MalaCards
    spinocerebellar ataxia    ataxia    cerebellar ataxia    spinal-bulbar muscular atrophy
    machado-joseph disease    transthyretin amyloidosis    familial transthyretin amyloidosis    spinocerebellar ataxia type 7
    neuronal intranuclear inclusion disease    myotonic dystrophy type 1    spinocerebellar ataxia type 3    restless legs syndrome
    friedreich ataxia    retinal degeneration    multiple system atrophy    spinocerebellar degeneration
    myotonic dystrophy    olivopontocerebellar atrophy    muscular atrophy    amyotrophic lateral sclerosis

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

    10/19 Novoseek 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
    Spinocerebellar Ataxia Type 1

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

    Export disorders for ATXN1 gene to outside databases

    Publications
    for ATXN1 gene

    (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 193):
    (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. The structure of the AXH domain of spinocerebellar ataxin-1. (PubMed id 14583607)1, 2, 9 Chen Y.W.... Bycroft M. (2004)
    4. 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)
    5. 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)
    6. 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)
    7. 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)
    8. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1, 2 Lim J.... Zoghbi H.Y. (2006)
    9. CAG repeats in Restless Legs syndrome. (PubMed id 16389595)1, 4 Konieczny M....Schols L. (2006)
    10. Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1. (PubMed id 16121196)1, 2 Mizutani A....Tsai C.C. (2005)

    External Searches for ATXN1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ATXN1 gene

    (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

    Other Databases showing ATXN1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ATXN1 gene

    (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

    Intellectual Property
    for ATXN1 gene

    (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:
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