TOR1AIP1
Sign in to saveAlso known as LAP1, LAP1B, torsin 1A interacting protein 1, LGMD2Y, LAP1C
Torsin-1A-interacting protein 1 is a protein that in humans is encoded by the TOR1AIP1 gene. More commonly known as lamina associated polypeptide 1 (LAP1), it is a type II integral membrane protein that resides in the inner nuclear membrane. The luminal domain of LAP1 interacts with Torsin A and is necessary for the ATPase activity of Torsin A. LAP1 plays a critical role in skeletal and heart muscle. Mutations in TOR1AIP1 have been linked to muscular dystrophy and cardiomyopathy. It's deletion from mouse hepatocytes leads to defected very-low density lipoprotein secretion and causes non-alcoho
Gene data
TOR1AIP1- Name
- torsin 1A interacting protein 1
- Type
- protein-coding
- Aliases
- LAP1, LAP1B, LAP1C, LGMD2Y
This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016].
via MyGene.info
Gene · Ensembl
torsin 1A interacting protein 1
- Symbol
- TOR1AIP1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:179,882,042-179,921,442
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~1 min read
Encyclopedic overview
2 sectionsContents
- References
- Further reading
Torsin-1A-interacting protein 1 is a protein that in humans is encoded by the TOR1AIP1 gene. More commonly known as lamina associated polypeptide 1 (LAP1), it is a type II integral membrane protein that resides in the inner nuclear membrane. The luminal domain of LAP1 interacts with Torsin A and is necessary for the ATPase activity of Torsin A. LAP1 plays a critical role in skeletal and heart muscle. Mutations in TOR1AIP1 have been linked to muscular dystrophy and cardiomyopathy. It's deletion from mouse hepatocytes leads to defected very-low density lipoprotein secretion and causes non-alcoholic fatty liver disease and non-alcoholic steatohepatitis
==References==
Excerpted from Wikipedia’s “TOR1AIP1” article, available under the CC BY-SA 4.0 licence.