TOR1AIP1

TOR1AIP1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4TVS
Identifiers
Aliases	TOR1AIP1, LAP1, LAP1B, torsin 1A interacting protein 1, LGMD2Y, LAP1C
External IDs	OMIM: 614512; MGI: 3582693; HomoloGene: 9208; GeneCards: TOR1AIP1; OMA:TOR1AIP1 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	179,920,077 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	155,912,226 bp
RNA expression pattern
	Top expressed in
	Epithelium of choroid plexus; ; urethra; ; Achilles tendon; ; Skeletal muscle tissue of rectus abdominis; ; tail of epididymis; ; caput epididymis; ; decidua; ; corpus epididymis; ; germinal epithelium; ; parietal pleura;
	Top expressed in
	spermatid; ; seminiferous tubule; ; muscle of thigh; ; triceps brachii muscle; ; granulocyte; ; ankle; ; myocardium of ventricle; ; extraocular muscle; ; mesenteric lymph nodes; ; digastric muscle;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	cytoskeletal protein binding; ATPase binding; ATPase activator activity; protein binding; lamin binding;
Cellular component	integral component of membrane; nuclear inner membrane; nuclear envelope; membrane; nucleus; nuclear membrane;
Biological process	positive regulation of ATP-dependent activity; nuclear membrane organization; protein localization to nucleus; protein localization to nuclear envelope;
	Sources:Amigo / QuickGO
Orthologs
	26092
	208263
	ENSG00000143337
	ENSMUSG00000026466
	Q5JTV8
	Q921T2
	NM_001267578; NM_015602; NM_032678
	NM_001160018; NM_001160019; NM_144791
	NP_001254507; NP_056417
NP_001153490; NP_001153491; NP_659040; NP_001392364; NP_001392365;
	NP_001392366; NP_001392367
	Wikidata
View/Edit Human	View/Edit Mouse

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