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

Gene ID: 16467, updated on 21-Apr-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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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

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