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    Atcay ataxia, cerebellar, Cayman type [ Mus musculus (house mouse) ]

    Gene ID: 16467, updated on 23-Mar-2024

    Summary

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    Official Symbol
    Atcayprovided by MGI
    Official Full Name
    ataxia, cerebellar, Cayman typeprovided by MGI
    Primary source
    MGI:MGI:2448730
    See related
    Ensembl:ENSMUSG00000034958 AllianceGenome:MGI:2448730
    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
    ji; hes; CLAC; BNIP-H; 3322401A10Rik
    Summary
    Predicted to enable kinesin binding activity. Involved in neuron projection development. Located in mitochondrial membrane and neuron projection. Is expressed in gut; nervous system; and sensory organ. Used to study Cayman type cerebellar ataxia. Human ortholog(s) of this gene implicated in Cayman type cerebellar ataxia and cerebellar ataxia. Orthologous to human ATCAY (ATCAY kinesin light chain interacting caytaxin). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in CNS E18 (RPKM 50.5), whole brain E14.5 (RPKM 43.9) and 5 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Atcay in Genome Data Viewer
    Location:
    10 C1; 10 39.72 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (81040338..81067037, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (81204504..81230845, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene death-associated protein kinase 3 Neighboring gene ataxia, cerebellar, Cayman type, opposite strand Neighboring gene nicotinamide riboside kinase 2 Neighboring gene zinc finger RNA binding protein 2 Neighboring gene megakaryocyte-associated tyrosine kinase

    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. Alterations in cerebellar physiology are associated with a stiff-legged gait in Atcay(ji-hes) mice. Luna-Cancalon K, et al. Neurobiol Dis, 2014 Jul. PMID 24727095, Free PMC Article
    2. Cayman ataxia-related protein is a presynapse-specific caspase-3 substrate. Itoh M, et al. Neurochem Res, 2011 Jul. PMID 21369758
    3. Degradation of Caytaxin Causes Learning and Memory Deficits via Activation of DAPK1 in Aging. Guo Y, et al. Mol Neurobiol, 2019 May. PMID 30120735
    4. Expression of Caytaxin protein in Cayman Ataxia mouse models correlates with phenotype severity. Sikora KM, et al. PLoS One, 2012. PMID 23226316, Free PMC Article
    5. Brain-specific BNIP-2-homology protein Caytaxin relocalises glutaminase to neurite terminals and reduces glutamate levels. Buschdorf JP, et al. J Cell Sci, 2006 Aug 15. PMID 16899818

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. activation of DAPK1 impairs learning and memory by degrading Caytaxin during aging.
      Title: Degradation of Caytaxin Causes Learning and Memory Deficits via Activation of DAPK1 in Aging.
    2. Caytaxin's role in maintaining normal neuronal function
      Title: Expression of Caytaxin protein in Cayman Ataxia mouse models correlates with phenotype severity.
    3. Caytaxin is a novel substrate of caspase-3, which is cleaved upstream of the CRAL-TRIO/BCH domain and which regulates MEK2 signaling
      Title: Cayman ataxia-related protein is a presynapse-specific caspase-3 substrate.
    4. The classical hesitant allele of Atcay is partially suppressed by CAST/Ei alleles of the nuclear export factor Nxf1.
      Title: Multipotent genetic suppression of retrotransposon-induced mutations by Nxf1 through fine-tuning of alternative splicing.
    5. Mutations of mouse Atcay are an orthologous gene model for human Cayman ataxia.
      Title: Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Spontaneous (4)  1 citation
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (3) 

    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 kinesin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrion distribution ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of glutamate metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within nervous system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron projection development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neuron projection development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of protein localization ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in axon ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in dendrite ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuron projection ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in neuron projection terminus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in synapse ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    caytaxin
    Names
    ataxia, cerebellar, Cayman type homolog
    hesitant
    jittery

    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_178662.5 → NP_848777.1  caytaxin

      See identical proteins and their annotated locations for NP_848777.1

      Status: VALIDATED

      Source sequence(s)
      AC155932
      Consensus CDS
      CCDS24047.1
      UniProtKB/Swiss-Prot
      Q3TR94, Q8BHE3
      Related
      ENSMUSP00000036721.5, ENSMUST00000047408.6
      Conserved Domains (2) summary
      pfam12496
      Location:59 → 187
      BNIP2; Bcl2-/adenovirus E1B nineteen kDa-interacting protein 2
      pfam13716
      Location:189 → 314
      CRAL_TRIO_2; Divergent CRAL/TRIO domain

    RNA

    1. NR_190409.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC155932

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      81040338..81067037 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030244918.2 → XP_030100778.1  caytaxin isoform X1

      Conserved Domains (2) summary
      pfam12496
      Location:1 → 58
      BNIP2; Bcl2-/adenovirus E1B nineteen kDa-interacting protein 2
      pfam13716
      Location:60 → 197
      CRAL_TRIO_2; Divergent CRAL/TRIO domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BHE3.1 GenPept UniProtKB/Swiss-Prot:Q8BHE3

    Gene LinkOut

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

    Other Literature Sources
    Chemical Information
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