Recombinant Human Torsin-1A-interacting protein 1 (TOR1AIP1)

1. LAP1 protein encoded by TOR1AIP1 may play a role in dysferlinopathy pathogenesis PMID:28110863
2. LAP1 co-localizes with acetylated alpha-tubulin in the mitotic spindle and with gamma-tubulin in centrosomes (main microtubule organizing center) in mitotic cells. PMID:25323962
3. Data show that mutation of arginine 563 in lamina-associated polypeptide 1 (LAP1) reduces its ability to stimulate TorsinA ATPase hydrolysis. PMID:25149450
4. study described a new autosomal recessive nuclear envelope disease caused by a homozygous mutation in exon 1 of TOR1AIP1 encoding LAP1B; study expands the spectrum of genes associated with nuclear envelopathies and highlights critical function for LAP1B in striated muscle PMID:24856141
5. Data indicate that the protein phosphatase 1 (PP1) binding domain in nuclear membrane protein lamina associated polypeptide 1B (LAP1B) was here identified as the REVRF motif at amino acids 55-59. PMID:24116158
6. Molecular cloning of LAP1B & the role of the protein domains in localization of LAP1B to nuclear and endoplasmic reticulum membranes was determined PMID:12061773

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HGNC: 29456

UNIGENE: Hs.496459

KEGG: hsa:26092

STRING: 9606.ENSP00000393292

OMIM: 614512