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

ATXN1L Gene

protein-coding   GIFtS: 43
GCID: GC16P071879

Ataxin 1-Like

  See related diseases
at  

(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 1-Like1 2     BOAT12 3
Brother Of Ataxin-12 3     Brother Of Ataxin 11
Brother Of ATXN12 3     ataxin-1-like2
BOAT2 3     

External Ids:    HGNC: 332791   Entrez Gene: 3423712   Ensembl: ENSG000002244707   OMIM: 6143015   UniProtKB: P0C7T53   

Export aliases for ATXN1L gene to outside databases

Previous GC identifers: GC16P070436 GC16P057648


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

GeneCards Summary for ATXN1L Gene: 
ATXN1L (ataxin 1-like) is a protein-coding gene. Diseases associated with ATXN1L include acute cholangitis, and cholangitis. GO annotations related to this gene include RNA binding and DNA binding. An important paralog of this gene is ATXN1.

UniProtKB/Swiss-Prot: ATX1L_HUMAN, P0C7T5
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. Can suppress ATXN1 cytotoxicity in spinocerebellar ataxia type 1 (SCA1) (By similarity)




(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_000016.9  NC_018927.2  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATXN1L gene promoter:
         C/EBPbeta   AML1a   MyoD   STAT5A   Gfi-1   AREB6   FAC1   GATA-6   ARP-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ATXN1L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN1L


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

Entrez Gene cytogenetic band: 16q22.2   Ensembl cytogenetic band:  16q22.2   HGNC cytogenetic band: 16q22.3

ATXN1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATXN1L gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P071879:  view genomic region     (about GC identifiers)

Start:
71,879,894 bp from pter      End:
71,919,174 bp from pter
Size:
39,281 bases      Orientation:
plus 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: ATX1L_HUMAN, P0C7T5 (See protein sequence)
Recommended Name: Ataxin-1-like  
Size: 689 amino acids; 73306 Da
Subunit: Homodimer. Interacts with CIC (By similarity). Interacts (via AXH domain) with NCOR2. Interacts with
ATXN1. Directly interacts with RBPJ; this interaction is disrupted in the presence of Notch intracellular domain.
Competes with ATXN1 for RBPJ-binding
Subcellular location: Nucleus. Cell projection, dendrite. Note=Forms nuclear foci. Colocalizes with NCOR2 and
HDAC3. Distributed beyond the nucleus into the cell body and dendrites in Purkinje cells and in inferior olive
cells

Explore the universe of human proteins at neXtProt for ATXN1L: NX_P0C7T5

Explore proteomics data for ATXN1L at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P0C7T5

  • ATXN1L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATXN1L Protein Expression
    REFSEQ proteins: NP_001131147.1  
    ENSEMBL proteins: 
     ENSP00000415822  

    Human Recombinant Protein Products for ATXN1L: 
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    Cloud-Clone Corp. Proteins for ATXN1L 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0030425dendrite IEA--

    ATXN1L 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
    1 InterPro protein domain:
     IPR013723 Ataxin-1_HBP1

    Graphical View of Domain Structure for InterPro Entry P0C7T5

    ProtoNet protein and cluster: P0C7T5

    UniProtKB/Swiss-Prot: ATX1L_HUMAN, P0C7T5
    Similarity: Belongs to the ATXN1 family
    Similarity: Contains 1 AXH domain


    ATXN1L 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: ATX1L_HUMAN, P0C7T5
    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. Can suppress ATXN1 cytotoxicity in spinocerebellar ataxia type 1 (SCA1) (By similarity)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI--
         
    ATXN1L for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ATXN1L:
     Increased cell death HMECs cel  Synthetic lethal with Ras 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Atxn1l):
     behavior/neurological  craniofacial  growth/size  homeostasis/metabolism  mortality/aging 
     nervous system  respiratory system  skeleton 

    ATXN1L for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Atxn1ltm2.1Hzo for ATXN1L

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ATXN1L 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN1L


    (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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATXN1L

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/7 Interacting proteins for ATXN1L (P0C7T52, 3 ENSP000004158224) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBPJQ063302, 3, ENSP000003452064MINT-8184026 MINT-8184039 MINT-8176981 MINT-8184086 MINT-8177079 MINT-8177094 MINT-8177040 MINT-8184067 I2D: score=1 STRING: ENSP00000345206
    ATXN1P542532, 3, ENSP000002447694MINT-8184026 MINT-8176981 MINT-8184086 MINT-8177094 MINT-8177011 MINT-8176996 I2D: score=1 STRING: ENSP00000244769
    NCOR2Q9Y6182, 3, ENSP000003485514MINT-8184039 MINT-8176981 MINT-8177079 MINT-8177011 MINT-8176996 I2D: score=1 STRING: ENSP00000348551
    NCOR1O753763, ENSP000002687124I2D: score=1 STRING: ENSP00000268712
    HDAC3O153792MINT-8177094
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--

    ATXN1L 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ATXN1L (ATX1L)

    Search CenterWatch for drugs/clinical trials and news about ATXN1L / ATX1L

    (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 ATXN1L gene: 
    NM_001137675.3  

    Unigene Cluster for ATXN1L:

    Ataxin 1-like
    Hs.743239  [show with all ESTs]
    Unigene Representative Sequence: NM_001137675
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000427980(uc002fbd.2) ENST00000565676
    miRNA
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    8/145 QIAGEN miScript miRNA Assays for microRNAs that regulate ATXN1L (see all 145):
    hsa-miR-106a hsa-miR-3653 hsa-miR-342-3p hsa-miR-519a hsa-miR-759 hsa-miR-3622b-3p hsa-miR-200b hsa-miR-509-3-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ATXN1L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATXN1L
    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATXN1L
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ATXN1L
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                         Customized lentivirus expression plasmids for stable overexpression of ATXN1L 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN1L

    Additional mRNA sequence: 

    AB621810.1 AK025113.1 AK025339.1 AL833385.1 BC042985.2 BX537575.1 BX537596.1 

    8 DOTS entries:

    DT.314637  DT.100025650  DT.40252465  DT.120688141  DT.120688158  DT.100814402  DT.91756744  DT.92063181 

    1 AceView cDNA sequence:

    BI003589 

    GeneLoc Exon Structure


    (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

    ATXN1L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTAACTTAA
    ATXN1L Expression
    About this image


    See ATXN1L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATXN1L

    SOURCE GeneReport for Unigene cluster: Hs.743239

    UniProtKB/Swiss-Prot: ATX1L_HUMAN, P0C7T5
    Tissue specificity: Expressed in cerebellum and cerebral cortex

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN1L

    (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 ATXN1L gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atxn1l1 , 5 ataxin 1-like1, 5 91.12(n)1
    93.89(a)1
      8 (57.22 cM)5
    523351  NM_001080930.11  NP_001074399.11 
     1097264515 
    chicken
    (Gallus gallus)
    Aves ATXN1L1 ataxin 1-like 68.77(n)
    66.62(a)
      427566  XM_425139.2  XP_425139.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATXN1L6
    Uncharacterized protein
    48(a)
    1 ↔ 1
    GL343483.1(318434-320315)
    zebrafish
    (Danio rerio)
    Actinopterygii atxn1l1 ataxin 1-like 54.19(n)
    49.69(a)
      793927  XM_001333745.3  XP_001333781.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Atx-16
    Ataxin 1
    27(a)
    1 → many
    X(6717237-6718236)
    worm
    (Caenorhabditis elegans)
    Secernentea K04F10.16
    Protein K04F10.1
    24(a)
    1 → many
    I(6364918-6366228)


    ENSEMBL Gene Tree for ATXN1L (if available)
    TreeFam Gene Tree for ATXN1L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATXN1L gene
    ATXN12  

    ATXN1L for paralogs           About GeneDecksing


    5/8 Pseudogenes.org Pseudogenes for ATXN1L (see all 8)
    PGOHUM00000238450 PGOHUM00000238460 PGOHUM00000238472 PGOHUM00000238479 PGOHUM00000238534


    (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

    10/221 SNPs in ATXN1L are shown (see all 221)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs80509931,2
    C,F,H--71877966(+) TATAAG/ATTGTT 1 -- us2k111Minor allele frequency- A:0.02NS EA NA WA 1368
    rs752516701,2
    C,F--71878102(+) GGTTGG/CCTCAT 1 -- us2k11Minor allele frequency- C:0.12WA 118
    rs801210761,2
    C,F--71878140(+) CGAGGC/AGGGAA 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs47885611,2
    C,F,A--71878255(+) TCATCA/GCACCT 1 -- us2k19Minor allele frequency- G:0.40NA WA EA 370
    rs352425621,2
    C--71878383(+) ACACACA/-TACAC 1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs1482832821,2
    C--71878383(+) TATGT-/ACAC  
            
    ACACA
    1 -- us2k10--------
    rs1401567401,2
    --71878423(+) ATATC-/TTTTTT 1 -- us2k10--------
    rs1408264991,2
    --71878690(+) TCCCAA/GAGTGC 1 -- us2k10--------
    rs1878845511,2
    --71878709(+) CAGGCA/GTGAGC 1 -- us2k10--------
    rs1138867971,2
    C,F--71878791(+) AAAACC/TGCAAT 1 -- us2k11Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for ATXN1L (71879894 - 71919174 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ATXN1L:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv267783CNV Insertion20981092
    esv1001782CNV Insertion20482838
    nsv7285OTHER Inversion18451855

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614301    OMIM disorders: --

    5 diseases for ATXN1L:    About MalaCards
    acute cholangitis    cholangitis    spinocerebellar ataxia    ataxia
    cerebritis

    1 disease from the University of Copenhagen DISEASES database for ATXN1L:
    Spinocerebellar ataxia

    ATXN1L for disorders           About GeneDecksing


    Export disorders for ATXN1L 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 ATXN1L gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with ATXN1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ataxin-1 and Brother of ataxin-1 are components of th e Notch signalling pathway. (PubMed id 21475249)1, 2, 3 Tong X....Tsai C.C. (2011)
    2. Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1. (PubMed id 16121196)1, 2, 3 Mizutani A....Tsai C.C. (2005)
    3. Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. (PubMed id 17322884)1, 3 Bowman A.B....Zoghbi H.Y. (2007)
    4. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)1 Oshikawa M.... Kato S. (2011)
    5. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    6. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    8. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (2006)
    9. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 342371 HGNC: 33279 AceView: LOC342371 Ensembl:ENSG00000224470 euGenes: HUgn342371
    ECgene: ATXN1L H-InvDB: ATXN1L

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for ATXN1L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for ATXN1L gene:
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