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25 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ATAD3B
ATPase family AAA domain containing 3B
Chromosome 1 · 1p36.33
NCBI Gene: 83858Ensembl: ENSG00000160072.21HGNC: HGNC:24007UniProt: Q5T9A4
169PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionmitochondrion organizationplasma membranesecretory granule membraneovarian neoplasminflammatory bowel diseaseulcerative colitishypertriglyceridemia 2
✦AI Summary

ATAD3B is a primate-specific mitochondrial membrane protein that functions as a mitophagy receptor and negative regulator of ATAD3A activity. Under normal conditions, ATAD3B hetero-oligomerizes with ATAD3A, promoting ATAD3B targeting to the mitochondrial intermembrane space 1. When cells experience oxidative stress or mtDNA damage, ATAD3B-ATAD3A hetero-oligomerization is reduced, exposing ATAD3B's C-terminus at the mitochondrial outer membrane where it binds LC3 through its LIR motif to initiate PINK1-independent mitophagy 1. This mechanism enables selective clearance of damaged mitochondrial DNA, particularly relevant in mitochondrial diseases like MELAS 1. ATAD3B serves as a biomarker of pluripotent embryonic stem cells and supports mitochondrial stemness properties by negatively regulating ATAD3A function 2. The protein's expression is associated with reduced mitochondrial metabolism, low mtDNA copies, and fragmentated mitochondrial networks characteristic of stem cells 2. Clinically, ATAD3B dysfunction contributes to neurological syndromes through altered mitochondrial dynamics and cholesterol metabolism 3, while its expression patterns serve as prognostic markers in lymphomas 45.

Sources cited
1
ATAD3B functions as a mitophagy receptor that binds LC3 and promotes clearance of damaged mtDNA through PINK1-independent mitophagy
PMID: 33665835
2
ATAD3B is a primate-specific protein that serves as a biomarker of pluripotent stem cells and negatively regulates ATAD3A function
PMID: 28941010
3
ATAD3B deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism
PMID: 28549128
4
ATAD3B expression serves as a prognostic marker in diffuse large B-cell lymphoma
PMID: 39538125
5
ATAD3B is identified as one of eighteen prognostic mitochondria-related genes in DLBCL
PMID: 39811936
Disease Associationsⓘ20
ovarian neoplasmOpen Targets
0.11Weak
inflammatory bowel diseaseOpen Targets
0.11Weak
ulcerative colitisOpen Targets
0.11Weak
hypertriglyceridemia 2Open Targets
0.05Suggestive
familial hypercholesterolemiaOpen Targets
0.05Suggestive
pancreatic triacylglycerol lipase deficiencyOpen Targets
0.05Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
thyroid hormone metabolism, abnormal, 2Open Targets
0.04Suggestive
sitosterolemia 2Open Targets
0.04Suggestive
homozygous familial hypercholesterolemiaOpen Targets
0.04Suggestive
hypercholesterolemia, autosomal dominant, 3Open Targets
0.03Suggestive
hyperlipidemia due to hepatic triglyceride lipase deficiencyOpen Targets
0.03Suggestive
hypercholesterolemia, autosomal dominant, type BOpen Targets
0.03Suggestive
chylomicron retention diseaseOpen Targets
0.03Suggestive
lung adenocarcinomaOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.02Suggestive
ulcerative proctosigmoiditisOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GABPB1Shared pathway100%PYROXD2Shared pathway100%NDUFAF1Protein interaction99%ECSITProtein interaction99%PHB2Protein interaction72%ATAD3CShared pathway72%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
70%
Liver
68%
Lung
58%
Heart
18%
Brain
5%
Gene Interaction Network
Click a node to explore
ATAD3BGABPB1PYROXD2NDUFAF1ECSITPHB2ATAD3C
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5T9A4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.75–1.15]
RankingsWhere ATAD3B stands among ~20K protein-coding genes
  • #2,614of 20,598
    Most Researched169 · top quartile
  • #12,008of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedATAD3B
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
ATAD3B is a mitophagy receptor mediating clearance of oxidative stress-induced damaged mitochondrial DNA.
PMID: 33665835
EMBO J · 2021
1.00
2
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
PMID: 27640307
Am J Hum Genet · 2016
0.90
3
"ATAD3C regulates ATAD3A assembly and function in the mitochondrial membrane".
PMID: 38092275
Free Radic Biol Med · 2024
0.80
4
ATAD3, a vital membrane bound mitochondrial ATPase involved in tumor progression.
PMID: 22318359
J Bioenerg Biomembr · 2012
0.80
5
Lipid metabolism-related gene signature predicts prognosis and unveils novel anti-tumor drugs in specific type of diffuse large B cell lymphoma.
PMID: 39538125
Mol Med · 2024
0.70