TOR1B: Torsin Family 1 Member B
A AAA+ ATPase involved in nuclear envelope dynamics and neurological function
Gene Information Card
| Symbol | TOR1B |
|---|---|
| Full Name | Torsin Family 1 Member B |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 27348 ncbi.nlm.nih.gov/gene/27348 |
| Ensembl ID | ENSG00000136826 |
| UniProt ID | Q14657 |
| OMIM ID | 605052 |
| HGNC ID | 11996 |
| Aliases | DQ2, TOR1B, torsin-1B, torsin B |
Description
TOR1B (Torsin Family 1 Member B) encodes a member of the AAA+ (ATPases Associated with Diverse Cellular Activities) family of ATPases. The protein is localized to the endoplasmic reticulum and nuclear envelope, where it functions in membrane trafficking, nuclear envelope dynamics, and protein quality control. TOR1B is closely related to TOR1A, and mutations in TOR1A cause early-onset torsion dystonia, while TOR1B may modulate disease severity. TOR1B is widely expressed in human tissues, with highest levels in brain, testis, and heart.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dystonia, early-onset (DYT1) | TOR1B variants may modify penetrance of TOR1A mutations; TOR1B interacts with TOR1A and LULL1 | ClinVar, OMIM |
| Primary dystonia | Altered ATPase activity affecting nuclear envelope integrity | ClinVar |
| Cancer (pan-cancer) | Somatic mutations and copy number alterations observed in various tumors | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 15.2 | Medium |
| Heart | 10.8 | Medium |
| Liver | 6.3 | Low |
| Kidney | 8.1 | Low |
| Lung | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Embryonic kidney |
| SH-SY5Y | 11.2 | Neuroblastoma |
| HeLa | 9.5 | Cervical carcinoma |
| HepG2 | 7.8 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.646G>A (p.Gly216Arg) | Missense | Rare | Unknown functional effect; reported in dystonia patients |
| c.907C>T (p.Arg303Cys) | Missense | Rare | Potential loss of ATPase activity |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) predicted to abolish protein expression.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants (e.g., p.Gly216Arg) may interfere with wild-type TOR1B function in heterozygotes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Torsin-mediated nuclear envelope reassembly
• Endoplasmic reticulum stress response
• Protein folding and quality control
Protein Summary
Torsin-1B is a 332-amino acid AAA+ ATPase with an N-terminal signal peptide, a central ATPase domain, and a C-terminal region. It resides in the lumen of the endoplasmic reticulum and nuclear envelope. Torsin-1B requires cofactors LAP1 and LULL1 for ATPase activation. It participates in nuclear envelope formation after mitosis, lipid droplet metabolism, and protection against ER stress. Torsin-1B shares 70% sequence identity with torsin-1A (TOR1A).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TOR1B Knockout HEK293 Cell Line | EDJ-KQ8772 | Human | 27348 | Details Get a Quote |
| TOR1B Knockout A-549 Cell Line | EDJ-KQ35041 | Human | 27348 | Details Get a Quote |
| TOR1B Knockout HCT 116 Cell Line | EDJ-KQ35042 | Human | 27348 | Details Get a Quote |
| TOR1B Knockout HeLa Cell Line | EDJ-KQ35043 | Human | 27348 | Details Get a Quote |
