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    Atad1 ATPase family, AAA domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 67979, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Atad1provided by MGI
    Official Full Name
    ATPase family, AAA domain containing 1provided by MGI
    Primary source
    MGI:MGI:1915229
    See related
    Ensembl:ENSMUSG00000013662 AllianceGenome:MGI:1915229
    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
    Thorase; 4921525H23Rik
    Summary
    Enables ATP hydrolysis activity. Involved in learning or memory; negative regulation of glutamatergic synaptic transmission; and regulation of receptor internalization. Located in postsynaptic membrane. Is active in glutamatergic synapse and postsynapse. Is expressed in central nervous system; ganglia; renal cortex; submandibular gland primordium; and thymus primordium. Human ortholog(s) of this gene implicated in hyperekplexia 4. Orthologous to human ATAD1 (ATPase family AAA domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in CNS E18 (RPKM 23.5), CNS E14 (RPKM 20.1) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Atad1 in Genome Data Viewer
    Location:
    19 C1; 19 27.55 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (32649958..32717187, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (32672558..32739787, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 36419 Neighboring gene 3'-phosphoadenosine 5'-phosphosulfate synthase 2 Neighboring gene STARR-seq mESC enhancer starr_45950 Neighboring gene predicted gene, 36492 Neighboring gene STARR-positive B cell enhancer mm9_chr19:32786522-32786822 Neighboring gene STARR-positive B cell enhancer mm9_chr19:32787156-32787457 Neighboring gene STARR-seq mESC enhancer starr_45951 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:32828923-32829124 Neighboring gene STARR-positive B cell enhancer ABC_E7646 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:32830866-32830975 Neighboring gene killin, p53-regulated DNA replication inhibitor pseudogene Neighboring gene phosphatase and tensin homolog

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Genetic Deletion of Thorase Causes Purkinje Cell Loss and Impaired Motor Coordination Behavior. Li C, et al. Cells, 2023 Aug 10. PMID 37626842, Free PMC Article
    2. Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel. Umanah GKE, et al. Sci Transl Med, 2017 Dec 13. PMID 29237760, Free PMC Article
    3. The AAA + ATPase Thorase is neuroprotective against ischemic injury. Zhang J, et al. J Cereb Blood Flow Metab, 2019 Sep. PMID 29658368, Free PMC Article
    4. Synaptic Plasticity onto Dopamine Neurons Shapes Fear Learning. Pignatelli M, et al. Neuron, 2017 Jan 18. PMID 28103482
    5. Ganglioside regulation of AMPA receptor trafficking. Prendergast J, et al. J Neurosci, 2014 Sep 24. PMID 25253868, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic Deletion of Thorase Causes Purkinje Cell Loss and Impaired Motor Coordination Behavior.
      Title: Genetic Deletion of Thorase Causes Purkinje Cell Loss and Impaired Motor Coordination Behavior.
    2. AMPA Receptor Surface Expression Is Regulated by S-Nitrosylation of Thorase and Transnitrosylation of NSF.
      Title: AMPA Receptor Surface Expression Is Regulated by S-Nitrosylation of Thorase and Transnitrosylation of NSF.
    3. Thorase provides neuroprotection in an ATP-dependent manner against oxygen-glucose deprivation (OGD) neurotoxicity or glutamate N-Methyl-D-aspartate (NMDA) receptor-mediated excitotoxicity in vitro.
      Title: The AAA + ATPase Thorase is neuroprotective against ischemic injury.
    4. animals lacking Thorase in DAT+ neurons expressed greater associative learning in a fear conditioning paradigm.
      Title: Synaptic Plasticity onto Dopamine Neurons Shapes Fear Learning.
    5. Yeast Msp1 and mammalian ATAD1 are conserved members of the mitochondrial protein quality control system that might promote the extraction and degradation of mislocalized TA proteins to maintain mitochondrial integrity.
      Title: Msp1/ATAD1 maintains mitochondrial function by facilitating the degradation of mislocalized tail-anchored proteins.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (2)  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 ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables membrane protein dislocase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in extraction of mislocalized protein from mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in extraction of mislocalized protein from mitochondrial outer membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in extraction of mislocalized protein from mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in learning IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in memory IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of synaptic transmission, glutamatergic IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of postsynaptic neurotransmitter receptor internalization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of postsynaptic neurotransmitter receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial outer membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in peroxisomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in peroxisomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in postsynapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in postsynapse IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    located_in postsynaptic membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    outer mitochondrial transmembrane helix translocase
    Names
    ATPase family AAA domain-containing protein 1
    NP_080763.2
    XP_006527376.1

    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_026487.3 → NP_080763.2  outer mitochondrial transmembrane helix translocase

      See identical proteins and their annotated locations for NP_080763.2

      Status: VALIDATED

      Source sequence(s)
      AC162887
      Consensus CDS
      CCDS29752.1
      UniProtKB/Swiss-Prot
      Q3U8V2, Q9D5T0, Q9D7A4
      Related
      ENSMUSP00000157842.2, ENSMUST00000235412.2
      Conserved Domains (2) summary
      pfam17862
      Location:282 → 321
      AAA_lid_3; AAA+ lid domain
      cd19520
      Location:92 → 257
      RecA-like_ATAD1; ATPase domain of ATPase family AAA domain-containing protein 1 and similar ATPase domains

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      32649958..32717187 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006527313.3 → XP_006527376.1  outer mitochondrial transmembrane helix translocase isoform X1

      See identical proteins and their annotated locations for XP_006527376.1

      UniProtKB/Swiss-Prot
      Q3U8V2, Q9D5T0, Q9D7A4
      Related
      ENSMUSP00000069962.5, ENSMUST00000070210.6
      Conserved Domains (2) summary
      pfam17862
      Location:282 → 321
      AAA_lid_3; AAA+ lid domain
      cd19520
      Location:92 → 257
      RecA-like_ATAD1; ATPase domain of ATPase family AAA domain-containing protein 1 and similar ATPase domains
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D5T0.1 GenPept UniProtKB/Swiss-Prot:Q9D5T0

    Gene LinkOut

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

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