ATAD3A (ATPase family AAA domain containing 3A)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 55210
Gene name ATPase family AAA domain containing 3A
Gene symbol ATAD3A
Synonyms (NCBI Gene)
HAYOSPHRINL
Chromosome 1
Chromosome location 1p36.33
Summary This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domai
SNPs SNP information provided by dbSNP.
7
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (7)
SNP ID Visualize variation Clinical significance Consequence
rs200344678 C>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs760826883 C>A,G,T Pathogenic Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs1057517686 C>T Likely-pathogenic, pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs1057517687 C>T Likely-pathogenic, uncertain-significance, pathogenic Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant
rs1557458134 C>- Likely-pathogenic Intron variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
10
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (10)
miRTarBase ID miRNA Experiments Reference
MIRT022238 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT030419 hsa-miR-24-3p Microarray 19748357
MIRT048949 hsa-miR-92a-3p CLASH 23622248
MIRT045393 hsa-miR-149-5p CLASH 23622248
MIRT803878 hsa-miR-150 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (29)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001558 Process Regulation of cell growth IMP 20332122
GO:0005515 Function Protein binding IPI 22664726, 30914652, 31522117
GO:0005524 Function ATP binding IEA
GO:0005524 Function ATP binding IMP 20154147
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612316 25567 ENSG00000197785
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NVI7
Protein name ATPase family AAA domain-containing protein 3A (EC 3.6.1.-)
Protein function 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 importa
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12037 DUF3523 29 → 104 Domain of unknown function (DUF3523) Family
PF12037 DUF3523 131 → 334 Domain of unknown function (DUF3523) Family
PF00004 AAA 396 → 523 ATPase family associated with various cellular activities (AAA) Domain
Tissue specificity TISSUE SPECIFICITY: Overexpressed in lung adenocarcinomas (at protein level). {ECO:0000269|PubMed:20332122}.
Sequence
Sequence length 634
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
138
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital cerebellar hypoplasia Pathogenic rs1570345942 RCV000991277
Harel-Yoon syndrome Likely pathogenic; Pathogenic rs902213391, rs1057517686, rs2524212771, rs2524128308, rs1557458134, rs1641698007, rs1641722871, rs1172676832 RCV002227839
RCV000412539
RCV003236238
RCV004555171
RCV000723303
RCV001270778
RCV001293245
RCV001293246
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal Likely pathogenic; Pathogenic rs1464547304, rs2524128308, rs1557458134, rs1570345942, rs760826883, rs1570319915 RCV003223544
RCV004555171
RCV003989590
RCV001171378
RCV001027873
RCV001027874
Show/Hide Unknown Diseases (19)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Conflicting classifications of pathogenicity; Benign rs767198410, rs3118507 RCV005930067
RCV005927779
Adrenocortical carcinoma, hereditary Benign rs541906634 RCV005902472
ATAD3A-related condition Conflicting classifications of pathogenicity rs2524204010 RCV005430865
Cervical cancer Uncertain significance rs200238845 RCV005939058
Show/Hide Text Mining Associations (30)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adrenal Insufficiency Associate 38105692
Alcoholic Neuropathy Associate 28158749
Ataxia Associate 28549128
Brain Diseases Associate 28549128
Carcinoma Hepatocellular Associate 38134103
Cardiomyopathies Associate 37095554, 38105692
Cardiomyopathy Hypertrophic Associate 28158749, 38105692
Cataract Associate 32933822
Cerebellar Diseases Associate 28549128
Cerebral Palsy Associate 28158749