ATAD1 (ATPase Family AAA Domain Containing 1)
A mitochondrial AAA-ATPase regulating protein quality control and neurodegeneration
Gene Information Card
| Symbol | ATAD1 |
|---|---|
| Full Name | ATPase family AAA domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q23.31 |
| NCBI Gene ID | 84896 ncbi.nlm.nih.gov/gene/84896 |
| Ensembl ID | ENSG00000138135 |
| UniProt ID | Q5TCZ1 |
| OMIM ID | 615163 |
| HGNC ID | 26030 |
| Aliases | THORASE, DKFZp761E198, FLJ14953 |
Description
ATAD1 encodes a mitochondrial AAA-ATPase that functions as a protein unfoldase and dislocase, extracting mislocalized or misfolded membrane proteins from the mitochondrial outer membrane for degradation. It is involved in mitochondrial protein quality control, synaptic transmission, and regulation of AMPA receptor trafficking. Mutations in ATAD1 have been linked to neurodevelopmental disorders and neurodegeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia, seizures, and absent language (NEDHSAL) | Loss-of-function mutations impair mitochondrial protein quality control, leading to neuronal dysfunction and synaptic defects. | ClinVar, OMIM |
| Hereditary spastic paraplegia (possible) | Altered mitochondrial dynamics and protein homeostasis may contribute to axonal degeneration. | UniProt, literature |
| Cancer (potential) | Dysregulation of ATAD1 expression may affect mitochondrial apoptosis and tumor progression. | COSMIC (limited data) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Heart | 8.2 | Low |
| Liver | 6.1 | Low |
| Testis | 15.3 | Medium |
| Skeletal muscle | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.2 | High expression; relevant for neuronal studies |
| HeLa (cervical carcinoma) | 9.7 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 7.3 | Low expression |
| A549 (lung carcinoma) | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.686C>T (p.Pro229Leu) | Missense | Rare (MAF <0.01) | Likely damaging; associated with NEDHSAL in compound heterozygosity |
| c.1048C>T (p.Arg350Ter) | Nonsense | Rare | Loss-of-function; leads to truncated protein and disease phenotype |
| c.1123A>G (p.Thr375Ala) | Missense | Rare | Uncertain significance; possibly affects ATPase activity |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations are loss-of-function, leading to impaired mitochondrial protein extraction and neuronal dysfunction.
Gain of Function (GOF)
No evidence for gain-of-function mutations in ATAD1.
Dominant Negative (DN)
Not reported; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • ATP hydrolysis activity | • protein binding |
| • mitochondrial outer membrane | • protein quality control |
| • protein homooligomerization | • ATP-dependent protein dislocase activity |
Pathways
• Mitochondrial protein degradation
• Unfolded protein response (UPR)
• AMPA receptor trafficking
Protein Summary
ATAD1 (Thorase) is a mitochondrial AAA-ATPase that forms hexameric rings and uses ATP hydrolysis to unfold and extract membrane proteins, particularly mislocalized tail-anchored proteins, from the mitochondrial outer membrane. It plays a critical role in mitochondrial quality control and synaptic plasticity by regulating the surface expression of AMPA receptors. The protein is ubiquitously expressed but enriched in brain and testis. Defects in ATAD1 lead to severe neurodevelopmental phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GATAD1 Knockout HEK293 Cell Line | EDJ-KQ1027 | Human | 57798 | Details Get a Quote |
| ATAD1 Knockout HEK293 Cell Line | EDJ-KQ10240 | Human | 84896 | Details Get a Quote |
| GATAD1 Knockout A-549 Cell Line | EDJ-KQ20126 | Human | 57798 | Details Get a Quote |
| GATAD1 Knockout HCT 116 Cell Line | EDJ-KQ20127 | Human | 57798 | Details Get a Quote |
| ATAD1 Knockout HCT 116 Cell Line | EDJ-KQ36184 | Human | 84896 | Details Get a Quote |
| GATAD1 Knockout HeLa Cell Line | EDJ-KQ18788 | Human | 57798 | Details Get a Quote |
| ATAD1 Knockout A-549 Cell Line | EDJ-KQ37427 | Human | 84896 | Details Get a Quote |
| ATAD1 Knockout HeLa Cell Line | EDJ-KQ37429 | Human | 84896 | Details Get a Quote |
| GATAD1 Overexpression K-562 Stable Cell Line | EDC01490 | Human | 57798 | Details Get a Quote |
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