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ATAD3A

Chr 1p36.33

ATPase family AAA domain containing 3A

Aliases:
FLJ10709
MANE:
ENST00000378756.8
OMIM: 612316 ↗NCBI: 55210 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ataxia and cerebellar anomalies - narrow panel

    BIALLELIC, autosomal or pseudoautosomal

  • Bilateral congenital or childhood onset cataracts

    BIALLELIC, autosomal or pseudoautosomal

  • Cerebellar hypoplasia

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Fetal anomalies

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Hereditary neuropathy or pain disorder

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Intellectual disability

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Likely inborn error of metabolism

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • Harel-Yoon syndrome

    0.82

  • pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal

    0.79

  • lactic acidosis

    0.46

  • hereditary disease

    0.42

  • isolated cerebellar hypoplasia/agenesis

    0.34

  • neurodegenerative disease

    0.29

  • Global developmental delay

    0.19

  • Autoimmunity

    0.19

  • Hypotonia

    0.19

  • Dystonia

    0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

ATPase family AAA domain-containing protein 3A

Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism and cellular level (PubMed:17210950, PubMed:20154147, PubMed:22453275, PubMed:31522117, PubMed:37832546, PubMed:39116259). May play an important role in mitochondrial protein synthesis (PubMed:22453275). May also participate in mitochondrial DNA replication (PubMed:17210950). May bind to mitochondrial DNA D-loops and contribute to nucleoid stability (PubMed:17210950). Required for enhanced channeling of cholesterol for hormone-dependent steroidogenesis (PubMed:22453275). Involved in mitochondrial-mediated antiviral innate immunity (PubMed:31522117). Required to protect mitochondria from the PERK-mediated unfolded protein response: specifically inhibits the activity of EIF2AK3/PERK at mitochondria-endoplasmic reticulum contact sites, thereby providing a safe haven for mitochondrial protein translation during endoplasmic reticulum stress (PubMed:39116259). Ability to inhibit EIF2AK3/PERK is independent of its ATPase activity (PubMed:39116259). Also involved in the mitochondrial DNA damage response by promoting signaling between damaged genomes and the mitochondrial membrane, leading to activation of the integrated stress response (ISR) (PubMed:37832546)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.