Identity
HGNC
LOCATION
1q25.2
LOCUSID
ALIAS
LAP1,LAP1B,LAP1C,LGMD2Y
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 26092
MIM: 614512
HGNC: 29456
Ensembl: ENSG00000143337
Variants:
dbSNP: 26092
ClinVar: 26092
TCGA: ENSG00000143337
COSMIC: TOR1AIP1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37108075 | 2023 | TOR1AIP1-Associated Nuclear Envelopathies. | 0 |
| 37108075 | 2023 | TOR1AIP1-Associated Nuclear Envelopathies. | 0 |
| 32055997 | 2020 | Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies. | 8 |
| 32055997 | 2020 | Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies. | 8 |
| 30723199 | 2019 | Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy. | 31 |
| 30723199 | 2019 | Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy. | 31 |
| 28110863 | 2017 | Gene co-expression network analysis of dysferlinopathy: Altered cellular processes and functional prediction of TOR1AIP1, a novel muscular dystrophy gene. | 2 |
| 28110863 | 2017 | Gene co-expression network analysis of dysferlinopathy: Altered cellular processes and functional prediction of TOR1AIP1, a novel muscular dystrophy gene. | 2 |
| 25323962 | 2015 | LAP1 is a crucial protein for the maintenance of the nuclear envelope structure and cell cycle progression. | 12 |
| 25323962 | 2015 | LAP1 is a crucial protein for the maintenance of the nuclear envelope structure and cell cycle progression. | 12 |
| 24856141 | 2014 | Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. | 42 |
| 25149450 | 2014 | How lamina-associated polypeptide 1 (LAP1) activates Torsin. | 58 |
| 24856141 | 2014 | Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. | 42 |
| 25149450 | 2014 | How lamina-associated polypeptide 1 (LAP1) activates Torsin. | 58 |
| 24116158 | 2013 | The nuclear envelope protein, LAP1B, is a novel protein phosphatase 1 substrate. | 12 |
Citation
Dessen P
TOR1AIP1 (torsin 1A interacting protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75061/gene-fusions/case-report-explorer/
