TOR1AIP1

{{Short description|Protein-coding gene in the species Homo sapiens}} {{Infobox_gene}} '''Torsin-1A-interacting protein 1''' is a protein that in humans is encoded by the ''TOR1AIP1'' gene.<ref name="pmid12061773">{{cite journal | vauthors = Kondo Y, Kondoh J, Hayashi D, Ban T, Takagi M, Kamei Y, Tsuji L, Kim J, Yoneda Y | title = Molecular cloning of one isotype of human lamina-associated polypeptide 1s and a topological analysis using its deletion mutants | journal = Biochem Biophys Res Commun | volume = 294 | issue = 4 | pages = 770–8 |date=Jun 2002 | pmid = 12061773 | doi = 10.1016/S0006-291X(02)00563-6 }}</ref><ref name="pmid15767459">{{cite journal | vauthors = Goodchild RE, Dauer WT | title = The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein | journal = J Cell Biol | volume = 168 | issue = 6 | pages = 855–62 |date=Mar 2005 | pmid = 15767459 | pmc = 2171781 | doi = 10.1083/jcb.200411026 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: TOR1AIP1 torsin A interacting protein 1| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=26092}}</ref> 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.<ref>Shin JY, Méndez-López I, Wang Y, Hays AP, Tanji K, Lefkowitch JH, Schulze PC, Worman HJ, Dauer WT. (2013) Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance. ''Dev Cell.'' '''26:'''591-603. doi: 10.1016/j.devcel.2013.08.012.</ref><ref>Shin JY, Le Dour C, Sera F, Iwata S, Homma S, Joseph LC, Morrow JP, Dauer WT, Worman HJ. (2014) Depletion of lamina-associated polypeptide 1 from cardiomyocytes causes cardiac dysfunction in mice. ''Nucleus''. '''5:'''260-459. doi: 10.4161/nucl.29227.</ref> Mutations in ''TOR1AIP1'' have been linked to muscular dystrophy and cardiomyopathy.<ref>Kayman-Kurekci G, Talim B, Korkusuz P, Sayar N, Sarioglu T, Oncel I, Sharafi P, Gundesli H, Balci-Hayta B, Purali N, Serdaroglu-Oflazer P, Topaloglu H, Dincer P. (2014) Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. ''Neuromuscul Disord''. '''24:'''624-33. doi: 10.1016/j.nmd.2014.04.007</ref><ref>Ghaoui R, Benavides T, Lek M, Waddell LB, Kaur S, North KN, MacArthur DG, Clarke NF, Cooper ST. (2016) TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy. ''Neuromuscul Disord''. '''26:'''500-503. doi: 10.1016/j.nmd.2016.05.013.</ref> 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<ref>Shin JY, Hernandez-Ono A, Fedotova T, Östlund C, Lee MJ, Gibeley SB, Liang CC, Dauer WT, Ginsberg HN, Worman HJ. (2019) Nuclear envelope-localized torsinA-LAP1 complex regulates hepatic VLDL secretion and steatosis. ''J Clin Invest''. '''130:'''4885-4900. doi: 10.1172/JCI129769.</ref>

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==Further reading== {{refbegin | 2}} *{{cite journal | vauthors=Foisner R, Gerace L |title=Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation |journal=Cell |volume=73 |issue= 7 |pages= 1267–79 |year= 1993 |pmid= 8324822 |doi=10.1016/0092-8674(93)90355-T |doi-access=free }} *{{cite journal | vauthors=Maison C, Pyrpasopoulou A, Theodoropoulos PA, Georgatos SD |title=The inner nuclear membrane protein LAP1 forms a native complex with B-type lamins and partitions with spindle-associated mitotic vesicles |journal=EMBO J. |volume=16 |issue= 16 |pages= 4839–50 |year= 1997 |pmid= 9305626 |doi= 10.1093/emboj/16.16.4839 | pmc=1170119 }} *{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }} *{{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }} *{{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }} *{{cite journal |vauthors=Rual JF, Venkatesan K, Hao T, etal |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |bibcode=2005Natur.437.1173R |s2cid=4427026 }} *{{cite journal |vauthors=Gregory SG, Barlow KF, McLay KE, etal |title=The DNA sequence and biological annotation of human chromosome 1 |journal=Nature |volume=441 |issue= 7091 |pages= 315–21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 |bibcode=2006Natur.441..315G |doi-access= free }} *{{cite journal |vauthors=Olsen JV, Blagoev B, Gnad F, etal |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 |s2cid=7827573 |doi-access=free }} {{refend}}