TOR1A
Torsin Family 1 Member A
Gene Information Card
| Symbol | TOR1A |
|---|---|
| Full Name | Torsin Family 1 Member A |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 1861 ncbi.nlm.nih.gov/gene/1861 |
| Ensembl ID | ENSG00000136827 |
| UniProt ID | O14656 |
| OMIM ID | 605204 |
| HGNC ID | 11995 |
| Aliases | DYT1, DQ2, TA, torsin A |
Description
TOR1A encodes torsin 1A, an ATPase of the AAA+ family localized to the endoplasmic reticulum and nuclear envelope. It functions in protein folding, membrane trafficking, and nuclear envelope dynamics. A recurrent in-frame deletion (c.907_909delGAG, p.Glu303del) is the primary cause of DYT1 early-onset torsion dystonia, an autosomal dominant movement disorder with reduced penetrance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Early-onset torsion dystonia (DYT1) | Dominant-negative effect of mutant torsin 1A (p.Glu303del) disrupts nuclear envelope and ER function, impairing protein quality control and neuronal homeostasis. | OMIM #128100; ClinVar; multiple case-control studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 12.3 | Medium |
| Brain (cortex) | 9.8 | Low |
| Testis | 8.5 | Low |
| Liver | 6.2 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HEK293 (embryonic kidney) | 11.4 | Common overexpression system |
| HeLa (cervical carcinoma) | 9.7 | Epithelial model |
| HepG2 (hepatocellular carcinoma) | 7.3 | Liver model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.907_909delGAG (p.Glu303del) | In-frame deletion | ~80% of DYT1 cases | Dominant-negative; impairs ATPase activity and causes nuclear envelope blebbing |
| c.862G>A (p.Glu288Lys) | Missense | Rare | Reduced ATPase activity; uncertain pathogenicity |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; likely benign |
Mutation functional classification
Loss of Function (LOF)
Not established as disease mechanism; homozygous null mice are lethal but not dystonic.
Gain of Function (GOF)
Not supported; mutant protein retains partial function but exerts dominant-negative effects.
Dominant Negative (DN)
Primary mechanism for p.Glu303del; mutant torsin 1A interferes with wild-type function at the nuclear envelope.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Unfolded Protein Response (UPR)
• Endoplasmic Reticulum Stress Pathway
• Nuclear Envelope Integrity Pathway
Protein Summary
Torsin 1A is a 332-amino-acid AAA+ ATPase with an N-terminal signal peptide, a central ATPase domain, and a C-terminal domain. It resides in the ER lumen and perinuclear space, where it uses ATP hydrolysis to remodel proteins and membranes. The p.Glu303del mutation in the ATPase domain reduces ATP turnover and causes abnormal accumulation of torsin 1A at the nuclear envelope, leading to neuronal dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TOR1A Knockout HEK293 Cell Line | EDJ-KQ2038 | Human | 1861 | Details Get a Quote |
| TOR1AIP1 Knockout HEK293 Cell Line | EDJ-KQ8396 | Human | 26092 | Details Get a Quote |
| TOR1AIP2 Knockout HEK293 Cell Line | EDJ-KQ15885 | Human | 163590 | Details Get a Quote |
| TOR1A Knockout A-549 Cell Line | EDJ-KQ22079 | Human | 1861 | Details Get a Quote |
| TOR1A Knockout HCT 116 Cell Line | EDJ-KQ22080 | Human | 1861 | Details Get a Quote |
| TOR1A Knockout HeLa Cell Line | EDJ-KQ22081 | Human | 1861 | Details Get a Quote |
| TOR1AIP2 Knockout A-549 Cell Line | EDJ-KQ49106 | Human | 163590 | Details Get a Quote |
| TOR1AIP2 Knockout HCT 116 Cell Line | EDJ-KQ49107 | Human | 163590 | Details Get a Quote |
| TOR1AIP2 Knockout HeLa Cell Line | EDJ-KQ49108 | Human | 163590 | Details Get a Quote |
| TOR1AIP1 Knockout A-549 Cell Line | EDJ-KQ34465 | Human | 26092 | Details Get a Quote |
| TOR1AIP1 Knockout HCT 116 Cell Line | EDJ-KQ34466 | Human | 26092 | Details Get a Quote |
| TOR1AIP1 Knockout HeLa Cell Line | EDJ-KQ34467 | Human | 26092 | Details Get a Quote |
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