Atad3a ATPase family, AAA domain containing 3A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atad3aprovided by MGI
Official Full Name: ATPase family, AAA domain containing 3Aprovided by MGI
Primary source: MGI:MGI:1919214
See related: Ensembl:ENSMUSG00000029036 AllianceGenome:MGI:1919214
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: Tob3; Atad3; mKIAA1273; 2400004H09Rik
Summary: Predicted to enable identical protein binding activity. Predicted to be involved in DNA damage response; antiviral innate immune response; and mitochondrion organization. Located in mitochondrion. Is expressed in several structures, including brain; femur; hemolymphoid system; liver; and lung. Human ortholog(s) of this gene implicated in Harel-Yoon syndrome and neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome. Orthologous to several human genes including ATAD3A (ATPase family AAA domain containing 3A). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 30.3), ovary adult (RPKM 29.7) and 28 other tissues See more
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Genomic context

Location:: 4 E2; 4 87.2 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (155825097..155845579, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (155740640..155761124, complement)

Chromosome 4 - NC_000070.7 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 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?

ATAD3 is a limiting factor in mitochondrial biogenesis and adipogenesis of white adipocyte-like 3T3-L1 cells.
Title: ATAD3 is a limiting factor in mitochondrial biogenesis and adipogenesis of white adipocyte-like 3T3-L1 cells.
The SIRT3-ATAD3A axis regulates MAM dynamics and mitochondrial calcium homeostasis in cardiac hypertrophy.
Title: The SIRT3-ATAD3A axis regulates MAM dynamics and mitochondrial calcium homeostasis in cardiac hypertrophy.
Sigma-1 receptor maintains ATAD3A as a monomer to inhibit mitochondrial fragmentation at the mitochondria-associated membrane in amyotrophic lateral sclerosis.
Title: Sigma-1 receptor maintains ATAD3A as a monomer to inhibit mitochondrial fragmentation at the mitochondria-associated membrane in amyotrophic lateral sclerosis.
Deletion of ATAD3A inhibits osteogenesis by impairing mitochondria structure and function in pre-osteoblast.
Title: Deletion of ATAD3A inhibits osteogenesis by impairing mitochondria structure and function in pre-osteoblast.
ATAD3A oligomerization promotes neuropathology and cognitive deficits in Alzheimer's disease models.
Title: ATAD3A oligomerization promotes neuropathology and cognitive deficits in Alzheimer's disease models.
ATAD3A has a scaffolding role regulating mitochondria inner membrane structure and protein assembly.
Title: ATAD3A has a scaffolding role regulating mitochondria inner membrane structure and protein assembly.
Loss of ATAD3 caused early and severe mitochondrial structural abnormalities, mitochondrial proliferation and muscle atrophy.
Title: ATAD3 controls mitochondrial cristae structure in mouse muscle, influencing mtDNA replication and cholesterol levels.
ATAD3A plays a key role in neurodegeneration by linking Drp1-induced mitochondrial fragmentation to defective mtDNA maintenance.
Title: ATAD3A oligomerization causes neurodegeneration by coupling mitochondrial fragmentation and bioenergetics defects.
Fancd2 localizes in the mitochondrion and associates with the nucleoid complex components Atad3 and Tufm.
Title: Fancd2 in vivo interaction network reveals a non-canonical role in mitochondrial function.
Loss of Atad3a caused accumulation of Pink1 and activated mitophagy.
Title: Atad3a suppresses Pink1-dependent mitophagy to maintain homeostasis of hematopoietic progenitor cells.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of HRI-mediated signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in antiviral innate immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrion organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell growth	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	HDA more info	PubMed
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial nucleoid	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ATPase family AAA domain-containing protein 3

Names: AAA-ATPase TOB3

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_179203.3 → NP_849534.2 ATPase family AAA domain-containing protein 3

See identical proteins and their annotated locations for NP_849534.2

Status: VALIDATED

Source sequence(s)

AK149702, BB839884, BF318525

Consensus CDS

CCDS19037.1

UniProtKB/Swiss-Prot

A2AD89, Q3TA78, Q3UE74, Q69ZM7, Q8C6C6, Q925I1

Related

ENSMUSP00000030903.6, ENSMUST00000030903.12

Conserved Domains (2) summary

pfam00004
Location:347 → 472

AAA; ATPase family associated with various cellular activities (AAA)

pfam12037
Location:42 → 285

DUF3523; Domain of unknown function (DUF3523)

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_000070.7 Reference GRCm39 C57BL/6J

Range

155825097..155845579 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036163570.1 → XP_036019463.1 ATPase family AAA domain-containing protein 3 isoform X1

Conserved Domains (2) summary

pfam12037
Location:1 → 109

DUF3523; Domain of unknown function (DUF3523)

cd19512
Location:147 → 296

RecA-like_ATAD3-like; ATPase domains of ATPase AAA-domain protein 3A (ATAD3A), -3B, and -3C, and similar ATPase domains