Torzin-1A-interaktivni protein 1 jest protein koji je kod ljudi kodiran genom TOR1AIP1 sa hromosoma 1.
Aminokiselinska sekvenca Dužina polipeptidnog lanca je 583 aminokiseline, a molekulska težina 66.248 Da.
1020304050 MAGDGRRAEAVREGWGVYVTPRAPIREGRGRLAPQNGGSSDAPAYRTPPS RQGRREVRFSDEPPEVYGDFEPLVAKERSPVGKRTRLEEFRSDSAKEEVR ESAYYLRSRQRRQPRPQETEEMKTRRTTRLQQQHSEQPPLQPSPVMTRRG LRDSHSSEEDEASSQTDLSQTISKKTVRSIQEAPVSEDLVIRLRRPPLRY PRYEATSVQQKVNFSEEGETEEDDQDSSHSSVTTVKARSRDSDESGDKTT RSSSQYIESFWQSSQSQNFTAHDKQPSVLSSGYQKTPQEWAPQTARIRTR MQNDSILKSELGNQSPSTSSRQVTGQPQNASFVKRNRWWLLPLIAALASG SFWFFSTPEVETTAVQEFQNQMNQLKNKYQGQDEKLWKRSQTFLEKHLNS SHPRSQPAILLLTAARDAEEALRCLSEQIADAYSSFRSVRAIRIDGTDKA TQDSDTVKLEVDQELSNGFKNGQNAAVVHRFESFPAGSTLIFYKYCDHEN AAFKDVALVLTVLLEEETLGTSLGLKEVEEKVRDFLKVKFTNSNTPNSYN HMDPDKLNGLWSRISHLVLPVQPENALKRGICL
Funkcija Ovaj proteim poznatiji je kao polipeptid 1 vwzan sa laminom (LAP1), tip II integralnih membranskih proteina koji se nalazi u unutrašnjoj jedarnoj membrani. Lumenski domen LAP1 je u interakciji sa torzinom-A i neophodan je za aktivnost ATPaznog torzina A. LAP1 ima ključnu ulogu u skeletnim i srčanom mišiću.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.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. Mutacije u TOR1AIP1 povezane su sa mišićnom distrofijom i kardiomiopatijom.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.2014.04.007Ghaoui 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. Njegova delecija u mišjim hepatocitima uzrokuje pojavu lučenja defektnih lipoproteina vrlo niske gustoće, što izaziva poremećaje zvane bolest nealkohplna masna jetra i nealkoholni steatohepatitisShin 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.
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Dopunska literatura
Kategorija:Geni na hromosomu 1 Kategorija:Ljudski proteini Kategorija:Proteomika