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Mišićni interaktivni protein LMNA (MLIP) jest protein koji je kod ljudi kodiran genom MLIP .[1]
Dužina polipeptidnog lanca je 458 aminokiselina , а molekulska težina 50.429 Da .[2]
10 20 30 40 50 MELEKREKRS LLNKNLEEKL TVSAGGSEAK PLIFTFVPTV RRLPTHTQLA DTSKFLVKIP EESSDKSPET VNRSKSNDYL TLNAGSQQER DQAKLTCPSE VSGTILQERE FEANKLQGMQ QSDLFKAEYV LIVDSEGEDE AASRKVEQGP PGGIGTAAVR PKSLAISSSL VSDVVRPKTQ GTDLKTSSHP EMLHGMAPQQ KHGQQYKTKS SYKAFAAIPT NTLLLEQKAL DEPAKTESVS KDNTLEPPVE LYFPAQLRQQ TEELCATIDK VLQDSLSMHS SDSPSRSPKT LLGSDTVKTP TTLPRAAGRE TKYANLSSPS STVSESQLTK PGVIRPVPVK SRILLKKEEE VYEPNPFSKY LEDNSDLFSE QDVTVPPKPV SLHPLYQTKL YPPAKSLLHP QTLSHADCLA PGPFSHLSFS LSDEQENSHT LLSHNACNKL SHPMVAIPEH EALDSKEQ
Interaktivni protein u mišićnoj LMNAima brojne pseudonime, uključujući MLIP, C6orf142, CIP i proteine u interakciji s laminom A-tipa obogaćene mišićima.[1] [3]
MLIP se nalazi na kratkom kraku hromosoma 6 kod ljudi sa tačnim lokusom 6p12.1. Gen se proteže od 53929982 do 54266280 bp, na plus lancu hromosoma 6.[4] egzona i13 prerađenih varianti veličine od 23 do 57 kDa.[5] [6]
MLIP se nalazi samo u amniota (gmizavci , ptice i sisari ), gdje je visoko konzervirana . Mšji homolog je 2310046A06rik.[1] [6]
MLI je eksprimiran u cijelom tijelu, s većim nivoima u srčanim mišićnim ćelijama. On stupa u interakciju s jedarnim omotačem , proteinima lamin A/C , što je dovelo do njegovog otkrića. Također stupa u interakciju s transkripcijskim faktorom Islet1.[3]
Funkcija MLIP -a nije poznata, ali se pretpostavlja da može imati ulogu u rastu srca i srčanih oboljenja. Postoje neki dokazi da MLIP može biti uključen u održavanje srčane homeostaze i u početnu reakciju na promjene u radnom opterećenju. Međutim, model nokaut-miševa imao je normalnu srčanu funkciju i bez strukturnih abnormalnosti, što pokazuje da MLIP nije od vitalnog značaja za ove procese.[3]
^ a b c "Entrez Gene: C6orf142 chromosome 6 open reading frame 142" .^ "UniProt, Q5VWP3" (jezik: engleski). Pristupljeno 3. 10. 2021 .^ a b c Cattin ME, Wang J, Weldrick JJ, Roeske CL, Mak E, Thorn SL, DaSilva JN, Wang Y, Lusis AJ, Burgon PG (oktobar 2015). "Deletion of MLIP (muscle-enriched A-type lamin-interacting protein) leads to cardiac hyperactivation of Akt/mammalian target of rapamycin (mTOR) and impaired cardiac adaptation" . The Journal of Biological Chemistry . 290 (44): 26699–714. doi :10.1074/jbc.M115.678433 . PMC 4646324 PMID 26359501 . ^ "MLIP Gene (Protein Coding)" . Genecards.org . GeneCards, Human gene database. Pristupljeno 10. 11. 2016 .^ Šablon:Ensembl ^ a b Ahmady E, Deeke SA, Rabaa S, Kouri L, Kenney L, Stewart AF, Burgon PG (juni 2011). "Identification of a novel muscle A-type lamin-interacting protein (MLIP)" . The Journal of Biological Chemistry . 286 (22): 19702–13. doi :10.1074/jbc.M110.165548 . PMC 3103349 PMID 21498514 .
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