{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q9NVI7","secondaryAccessions":["B3KPB3","D2K8Q1","G3V1I6","Q5SV23","Q8N275","Q96A50"],"uniProtkbId":"ATD3A_HUMAN","entryAudit":{"firstPublicDate":"2005-09-13","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2025-04-09","entryVersion":207,"sequenceVersion":3},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"ATPase family AAA domain-containing protein 3A"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20154147"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"39116259"}],"value":"3.6.1.-"}]}},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"37832546"},{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:25567"}],"value":"ATAD3A"}}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17210950"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20154147"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22453275"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31522117"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37832546"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39116259"}],"value":"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)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"ATP + H2O = ADP + phosphate + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:13065"},{"database":"ChEBI","id":"CHEBI:15377"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:30616"},{"database":"ChEBI","id":"CHEBI:43474"},{"database":"ChEBI","id":"CHEBI:456216"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20154147"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"39116259"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:13066"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20154147"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"39116259"}]}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20154147"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20351179"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22453275"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22664726"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31522117"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39116259"}],"value":"Can form homooligomers (PubMed:20154147). Homodimer formation at the N-terminus may be regulated by ATP and is required for the interaction with the inner surface of the mitochondrial outer membrane and correct mitochondrial homeostasis (PubMed:20154147). Interacts with components of the mitochondrial ribosome and with other proteins involved in mitochondrial RNA metabolism (PubMed:22453275). May also interact with protein involved in lipid metabolism, including STARD9 (PubMed:22453275). May interact with MIMS1 (PubMed:22453275). Interacts with GADD45GIP1 (PubMed:22453275). Interacts with S100B in a Ca(+2)- and Zn(+2)-dependent manner; this interaction probably occurs in the cytosol prior to mitochondrial targeting (PubMed:20351179). S100B could assist ATAD3A cytoplasmic processing, preventing aggregation and favoring mitochondrial localization (PubMed:20351179). Interacts with HSP60/HSPD1 (PubMed:22664726). Forms heterooligomers with ATAD3B; this interaction may affect ATAD3A activity (PubMed:22664726). Interacts with CLPB (PubMed:31522117). Interacts with EIF2AK3/PERK; ATAD3A and EIF2S1/eIF-2-alpha occupy a common binding site within the cytoplasmic loop of EIF2AK3/PERK, leading to prevent EIF2AK3/PERK association with its substrate EIF2S1/eIF-2-alpha (PubMed:39116259)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q9NVI7","intActId":"EBI-352007"},"interactantTwo":{"uniProtKBAccession":"O00429","geneName":"DNM1L","intActId":"EBI-724571"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9NVI7","intActId":"EBI-352007"},"interactantTwo":{"uniProtKBAccession":"P10809","geneName":"HSPD1","intActId":"EBI-352528"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9NVI7-2","intActId":"EBI-5456381"},"interactantTwo":{"uniProtKBAccession":"Q9NVI7-2","geneName":"ATAD3A","intActId":"EBI-5456381"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9NVI7-2","intActId":"EBI-5456381"},"interactantTwo":{"uniProtKBAccession":"O00429","geneName":"DNM1L","intActId":"EBI-724571"},"numberOfExperiments":5,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18063578"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20154147"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20349121"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39116259"}],"value":"In the mitochondrial inner membrane, enriched in sites with the potential to form contacts with the outer membrane (PubMed:20154147, PubMed:20349121). The N-terminal domain interacts with the inner surface of the mitochondrial outer membrane and the C-terminal domain localizes in a specific matrix compartment, where it is associated with nucleoids (PubMed:18063578). Also present at mitochondria-endoplasmic reticulum contact sites; where it interacts with EIF2AK3/PERK (PubMed:39116259)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18063578"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20154147"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20332122"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20349121"}],"value":"Mitochondrion inner membrane","id":"SL-0168"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20154147"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20349121"}],"value":"Single-pass membrane protein","id":"SL-9904"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17210950"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18063578"}],"value":"Mitochondrion matrix, mitochondrion nucleoid","id":"SL-0269"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"2"},"isoformIds":["Q9NVI7-2"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"1"},"isoformIds":["Q9NVI7-1"],"sequenceIds":["VSP_062536"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["Q9NVI7-3"],"sequenceIds":["VSP_062535"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20332122"}],"value":"Overexpressed in lung adenocarcinomas (at protein level)"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20154147"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22453275"}],"value":"Up-regulated by Angiotensin/AGT"}],"commentType":"INDUCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20154147"}],"value":"The transmembrane domain and a C-terminal adjacent region contain all information necessary for mitochondrial targeting"}],"commentType":"DOMAIN"},{"commentType":"DISEASE","disease":{"diseaseId":"Harel-Yoon syndrome","diseaseAccession":"DI-04881","acronym":"HAYOS","description":"A syndrome characterized by global developmental delay, hypotonia, intellectual disability, and axonal neuropathy. Some patients have optic atrophy and hypertrophic cardiomyopathy. HAYOS inheritance can be autosomal dominant or autosomal recessive.","diseaseCrossReference":{"database":"MIM","id":"617183"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27640307"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal","diseaseAccession":"DI-05789","acronym":"PHRINL","description":"An autosomal recessive multisystem disorder with onset in utero and death in the neonatal period. Affected infants show respiratory insufficiency and almost no spontaneous movement at birth. Additional features include corneal clouding, seizures, dysmorphic facies, contractures, and progressive pontocerebellar hypoplasia with simplified gyral pattern and white matter abnormalities. Some patients may have cardiac anomalies or cardiac hypertrophy.","diseaseCrossReference":{"database":"MIM","id":"618810"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29053797"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31727539"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the AAA ATPase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Initiator methionine","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1,"modifier":"EXACT"}},"description":"Removed","evidences":[{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.6"}]},{"type":"Chain","location":{"start":{"value":2,"modifier":"EXACT"},"end":{"value":586,"modifier":"EXACT"}},"description":"ATPase family AAA domain-containing protein 3A","featureId":"PRO_0000084799"},{"type":"Topological 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