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    Atxn1l ataxin 1-like [ Mus musculus (house mouse) ]

    Gene ID: 52335, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Atxn1lprovided by MGI
    Official Full Name
    ataxin 1-likeprovided by MGI
    Primary source
    MGI:MGI:3694797
    See related
    Ensembl:ENSMUSG00000069895 AllianceGenome:MGI:3694797
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Boat; D6Mgi37; D8Ertd587e; C330011L24Rik
    Summary
    Enables POZ domain binding activity. Involved in brain development; learning or memory; and social behavior. Acts upstream of or within several processes, including lung alveolus development; negative regulation of transcription by RNA polymerase II; and positive regulation of hematopoietic stem cell proliferation. Predicted to be located in nucleolus and nucleoplasm. Predicted to be active in nucleus. Orthologous to human ATXN1L (ataxin 1 like). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 14.3), lung adult (RPKM 9.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Atxn1l in Genome Data Viewer
    Location:
    8 D3; 8 57.22 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (110453083..110464426, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (109726451..109737794, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene polycystic kidney disease 1 like 3 Neighboring gene STARR-positive B cell enhancer ABC_E3805 Neighboring gene increased sodium tolerance 1 homolog (yeast) Neighboring gene zinc finger protein 821 Neighboring gene predicted gene, 53453 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:112261750-112261859 Neighboring gene STARR-seq mESC enhancer starr_22658 Neighboring gene STARR-seq mESC enhancer starr_22659 Neighboring gene STARR-seq mESC enhancer starr_22660 Neighboring gene predicted gene, 51550 Neighboring gene La ribonucleoprotein domain family, member 1B pseudogene Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:112302310-112302493 Neighboring gene STARR-seq mESC enhancer starr_22661 Neighboring gene adaptor protein complex AP-1, gamma 1 subunit Neighboring gene predicted gene, 17344 Neighboring gene small nucleolar RNA, C/D box 71

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Ataxin1L is a regulator of HSC function highlighting the utility of cross-tissue comparisons for gene discovery. Kahle JJ, et al. PLoS Genet, 2013 Mar. PMID 23555280, Free PMC Article
    2. Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. Bowman AB, et al. Nat Genet, 2007 Mar. PMID 17322884
    3. Ataxin-1 regulates B cell function and the severity of autoimmune experimental encephalomyelitis. Didonna A, et al. Proc Natl Acad Sci U S A, 2020 Sep 22. PMID 32878998, Free PMC Article
    4. ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism. Rousseaux MWC, et al. Neuron, 2018 Mar 21. PMID 29526553, Free PMC Article
    5. Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. Crespo-Barreto J, et al. PLoS Genet, 2010 Jul 8. PMID 20628574, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables POZ domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in brain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within extracellular matrix organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in learning IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within lung alveolus development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within lung alveolus development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in memory IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of hematopoietic stem cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in social behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ataxin-1-like
    Names
    brother of ataxin-1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001080930.2 → NP_001074399.1  ataxin-1-like

      See identical proteins and their annotated locations for NP_001074399.1

      Status: VALIDATED

      Source sequence(s)
      AC132138
      Consensus CDS
      CCDS40474.1
      UniProtKB/Swiss-Prot
      P0C7T6
      Related
      ENSMUSP00000090850.4, ENSMUST00000093162.4
      Conserved Domains (2) summary
      PTZ00395
      Location:111 → 302
      PTZ00395; Sec24-related protein; Provisional
      pfam08517
      Location:467 → 578
      AXH; Ataxin-1 and HBP1 module (AXH)

    2. NM_001368350.1 → NP_001355279.1  ataxin-1-like

      Status: VALIDATED

      Source sequence(s)
      AC132138
      Consensus CDS
      CCDS40474.1
      UniProtKB/Swiss-Prot
      P0C7T6
      Conserved Domains (2) summary
      PTZ00395
      Location:111 → 302
      PTZ00395; Sec24-related protein; Provisional
      pfam08517
      Location:467 → 578
      AXH; Ataxin-1 and HBP1 module (AXH)

    3. NM_001368351.1 → NP_001355280.1  ataxin-1-like

      Status: VALIDATED

      Source sequence(s)
      AC132138
      Consensus CDS
      CCDS40474.1
      UniProtKB/Swiss-Prot
      P0C7T6
      Related
      ENSMUSP00000148324.2, ENSMUST00000212605.2
      Conserved Domains (2) summary
      PTZ00395
      Location:111 → 302
      PTZ00395; Sec24-related protein; Provisional
      pfam08517
      Location:467 → 578
      AXH; Ataxin-1 and HBP1 module (AXH)

    4. NM_001368352.1 → NP_001355281.1  ataxin-1-like

      Status: VALIDATED

      Source sequence(s)
      AC132138
      Consensus CDS
      CCDS40474.1
      UniProtKB/Swiss-Prot
      P0C7T6
      Conserved Domains (2) summary
      PTZ00395
      Location:111 → 302
      PTZ00395; Sec24-related protein; Provisional
      pfam08517
      Location:467 → 578
      AXH; Ataxin-1 and HBP1 module (AXH)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      110453083..110464426 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011248439.3 → XP_011246741.1  ataxin-1-like isoform X1

      See identical proteins and their annotated locations for XP_011246741.1

      UniProtKB/Swiss-Prot
      P0C7T6
      Conserved Domains (2) summary
      PTZ00395
      Location:111 → 302
      PTZ00395; Sec24-related protein; Provisional
      pfam08517
      Location:467 → 578
      AXH; Ataxin-1 and HBP1 module (AXH)

    2. XM_030243670.2 → XP_030099530.1  ataxin-1-like isoform X1

      UniProtKB/Swiss-Prot
      P0C7T6
      Conserved Domains (2) summary
      PTZ00395
      Location:111 → 302
      PTZ00395; Sec24-related protein; Provisional
      pfam08517
      Location:467 → 578
      AXH; Ataxin-1 and HBP1 module (AXH)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C7T6.1 GenPept UniProtKB/Swiss-Prot:P0C7T6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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