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

Gene ID: 52335, updated on 2-Nov-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, Nov 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 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

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