TOR1AIP1
Torsin 1A Interacting Protein 1
Gene Information Card
| Symbol | TOR1AIP1 |
|---|---|
| Full Name | Torsin 1A Interacting Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q25.2 |
| NCBI Gene ID | 26092 ncbi.nlm.nih.gov/gene/26092 |
| Ensembl ID | ENSG00000143337 |
| UniProt ID | Q5JTV8 |
| OMIM ID | 614545 |
| HGNC ID | 19988 |
| Aliases | LAP1B, LAP1C, LAP1, TOR1AIP1 |
Description
TOR1AIP1 encodes a nuclear membrane protein that interacts with torsin-1A (TOR1A). It is involved in nuclear envelope integrity, nuclear positioning, and centrosome attachment. Mutations in this gene are associated with autosomal recessive muscular dystrophy and dilated cardiomyopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMDR25) | Loss-of-function mutations disrupt nuclear envelope integrity, leading to muscle fiber degeneration. | ClinVar, OMIM |
| Dilated cardiomyopathy with muscular dystrophy | Defective nuclear membrane stability impairs cardiac and skeletal muscle function. | ClinVar, OMIM |
| Primary dystonia (possible modifier) | Altered interaction with TOR1A may influence dystonia pathogenesis. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 28.5 | High |
| Heart | 22.3 | High |
| Liver | 15.1 | Medium |
| Brain | 10.2 | Medium |
| Kidney | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.7 | Cervical cancer cell line |
| HepG2 | 14.2 | Hepatocellular carcinoma |
| K562 | 9.5 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.186C>G (p.Tyr62*) | Nonsense | Rare | Loss of function; premature termination |
| c.568C>T (p.Arg190Trp) | Missense | Rare | Impaired protein interaction with TOR1A |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, causing muscular dystrophy.
Gain of Function (GOF)
Not reported for TOR1AIP1.
Dominant Negative (DN)
Not reported for TOR1AIP1.
View complete mutation data：
Gene Ontology (GO)
| • Nuclear envelope | • Endoplasmic reticulum membrane |
| • Protein binding | • ATPase activator activity |
| • Nuclear migration |
Pathways
• Nuclear envelope breakdown and reassembly
• Torsin-1A signaling
Protein Summary
TOR1AIP1 (LAP1) is a type II integral membrane protein localized to the inner nuclear membrane. It binds torsin-1A and regulates nuclear envelope dynamics, centrosome attachment, and nuclear movement. Isoforms LAP1B and LAP1C are expressed in muscle and other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TOR1AIP1 Knockout HEK293 Cell Line | EDJ-KQ8396 | Human | 26092 | 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 |
