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    Atxn10 ataxin 10 [ Mus musculus (house mouse) ]

    Gene ID: 54138, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Atxn10provided by MGI
    Official Full Name
    ataxin 10provided by MGI
    Primary source
    MGI:MGI:1859293
    See related
    Ensembl:ENSMUSG00000016541 AllianceGenome:MGI:1859293
    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
    E46; Sca10; Tex169; TEG-169
    Summary
    Predicted to enable enzyme binding activity and identical protein binding activity. Acts upstream of or within cilium assembly. Located in centriole and ciliary basal body. Is expressed in several structures, including central nervous system; metanephros; and retina. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 10. Orthologous to human ATXN10 (ataxin 10). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in placenta adult (RPKM 139.2), CNS E18 (RPKM 82.4) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Atxn10 in Genome Data Viewer
    Location:
    15 E2; 15 40.32 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (85220456..85348038)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (85336255..85463837)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene fibulin 1 Neighboring gene predicted gene, 34337 Neighboring gene STARR-seq mESC enhancer starr_39386 Neighboring gene predicted gene, 23517 Neighboring gene STARR-seq mESC enhancer starr_39387 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:85239711-85239966 Neighboring gene STARR-seq mESC enhancer starr_39388 Neighboring gene RIKEN cDNA 7530416G11 gene Neighboring gene VISTA enhancer mm325 Neighboring gene ribosomal protein L27 pseudogene

    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. Ataxin-10 interacts with O-GlcNAc transferase OGT in pancreatic beta cells. Andrali SS, et al. Biochem Biophys Res Commun, 2005 Nov 11. PMID 16182253
    2. The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10. Wakamiya M, et al. Neurology, 2006 Aug 22. PMID 16924013
    3. The complete sequence of the host cell factor 1 (HCFC1) gene and its promoter: a role for YY1 transcription factor in the regulation of its expression. Zoppè M, et al. Genomics, 1996 May 15. PMID 8661027
    4. ATXN10 Is Required for Embryonic Heart Development and Maintenance of Epithelial Cell Phenotypes in the Adult Kidney and Pancreas. Bentley-Ford MR, et al. Front Cell Dev Biol, 2021. PMID 34970537, Free PMC Article
    5. Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. White MC, et al. PLoS Genet, 2010 Jun 10. PMID 20548952, Free PMC Article

    See all (43) 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 (1) 
    • Gene trapped (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 enzyme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nervous system development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuron projection development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron projection development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of cytokinesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of cytokinesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in dendrite ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in midbody ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in midbody ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    ataxin-10
    Names
    brain protein E46
    spinocerebellar ataxia type 10 protein homolog
    testis expressed gene 169

    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_016843.4 → NP_058539.2  ataxin-10

      Status: VALIDATED

      Source sequence(s)
      AK153271, BC046802, BQ176715
      Consensus CDS
      CCDS37170.1
      UniProtKB/Swiss-Prot
      P28658, Q543S3, Q99LP5, Q9D1I1
      UniProtKB/TrEMBL
      Q3TCF4, Q3TKP3
      Related
      ENSMUSP00000132450.2, ENSMUST00000163242.3
      Conserved Domains (1) summary
      pfam09759
      Location:370 → 467
      Atx10homo_assoc; Spinocerebellar ataxia type 10 protein domain

    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_000081.7 Reference GRCm39 C57BL/6J

      Range
      85220456..85348038
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P28658.2 GenPept UniProtKB/Swiss-Prot:P28658

    Gene LinkOut

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

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