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

Summary

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, Nov 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

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_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
animals lacking Thorase in DAT+ neurons expressed greater associative learning in a fear conditioning paradigm.
Title: Synaptic Plasticity onto Dopamine Neurons Shapes Fear Learning.
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.

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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

NoName (e-PCR)
- UniSTS:237922

AW107648 (e-PCR)
- UniSTS:181221

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 more info	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

EC 3.6.1.3

XP_006527376.1

EC 3.6.1.3

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)

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

NC_000085.7 Reference GRCm39 C57BL/6J

Range

32649958..32717187 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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