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

Gene ID: 67979, updated on 28-Oct-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, Oct 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

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. 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. Ganglioside regulation of AMPA receptor trafficking. Prendergast J, et al. J Neurosci, 2014 Sep 24. PMID 25253868, Free PMC Article
  5. Synaptic Plasticity onto Dopamine Neurons Shapes Fear Learning. Pignatelli M, et al. Neuron, 2017 Jan 18. PMID 28103482

See all (39) 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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