TOR1AIP1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | TOR1AIP1 |
| Official Name | torsin 1A interacting protein 1 [Source:HGNC Symbol;Acc:HGNC:29456] |
| Ensembl ID | ENSG00000143337 |
| Bio databases IDs | |
| Aliases | torsin 1A interacting protein 1, lamina associated polypeptide 1B |
| Synonyms | LAP1, Lap1B, LGMD2Y, torsin 1A interacting protein 1, torsin A interacting protein 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TOR1AIP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATPase stimulator
- ATPase binding
- cytoskeletal protein binding
- Lamina-associated polypeptide 1, AAA+ activator domain
- lumenal domain
- lamin binding
- protein binding
- Lamina-associated polypeptide 1, N-terminal
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dystonia progressive cerebellar atrophy and dilated cardiomyopathy
- limb-girdle muscular dystrophy type 2Y
- peripheral arterial disease
- refractive error
- centronuclear myopathy
role in cell
- expression in
- differentiation
- organization
- formation
- invasion by
- migration
- number
- blebbing
- morphology
- cell-cell fusion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- endoplasmic reticulum mitochondria contact site
- nuclear pores
- inner nuclear membrane
- nucleoplasm
- nuclear envelope
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TOR1AIP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of ATPase activity
- nuclear membrane organization
- protein localization to nucleus
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear inner membrane
- nuclear membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- cytoskeletal protein binding
- lamin binding
- ATPase activator activity
- ATPase binding