TOR1AIP1

TOR1AIP1
Identifiers
Aliases	TOR1AIP1, LAP1, LAP1B, torsin 1A interacting protein 1, LGMD2Y, LAP1C
External IDs	OMIM: 614512; MGI: 3582693; GeneCards: TOR1AIP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4TVS
Gene location (Human) Chr. Chromosome 1 (human) Band 1q25.2 Start 179,882,042 bp End 179,920,077 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1|1 G3 Start 155,880,345 bp End 155,912,226 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 26092 208263 Ensembl ENSG00000143337 ENSMUSG00000026466 UniProt Q5JTV8 Q921T2 RefSeq (mRNA) NM_001267578 NM_015602 NM_032678 NM_001160018 NM_001160019 NM_144791 RefSeq (protein) NP_001254507 NP_056417 NP_001153490 NP_001153491 NP_659040 NP_001392364 NP_001392365 NP_001392366 NP_001392367 Location (UCSC) Chr 1: 179.88 – 179.92 Mb Chr 1: 155.88 – 155.91 Mb PubMed search
Wikidata
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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