MLIP

MLIP
Identifikatori
Aliasi
Vanjski ID-jeviGeneCards: [1]
Ortolozi
VrsteČovjekMiš
Entrez

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Ensembl

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UniProt

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a

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RefSeq (mRNK)

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RefSeq (bjelančevina)

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Lokacija (UCSC)n/an/a
PubMed pretragan/an/a
Wikipodaci
Pogledaj/uredi – čovjek

Mišićni interaktivni protein LMNA (MLIP) jest protein koji je kod ljudi kodiran genom MLIP.[1]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 458 aminokiselina, а molekulska težina 50.429 Da.[2]

1020304050
MELEKREKRSLLNKNLEEKLTVSAGGSEAKPLIFTFVPTVRRLPTHTQLA
DTSKFLVKIPEESSDKSPETVNRSKSNDYLTLNAGSQQERDQAKLTCPSE
VSGTILQEREFEANKLQGMQQSDLFKAEYVLIVDSEGEDEAASRKVEQGP
PGGIGTAAVRPKSLAISSSLVSDVVRPKTQGTDLKTSSHPEMLHGMAPQQ
KHGQQYKTKSSYKAFAAIPTNTLLLEQKALDEPAKTESVSKDNTLEPPVE
LYFPAQLRQQTEELCATIDKVLQDSLSMHSSDSPSRSPKTLLGSDTVKTP
TTLPRAAGRETKYANLSSPSSTVSESQLTKPGVIRPVPVKSRILLKKEEE
VYEPNPFSKYLEDNSDLFSEQDVTVPPKPVSLHPLYQTKLYPPAKSLLHP
QTLSHADCLAPGPFSHLSFSLSDEQENSHTLLSHNACNKLSHPMVAIPEH
EALDSKEQ

Gen

Alijasi

Interaktivni protein u mišićnoj LMNAima brojne pseudonime, uključujući MLIP, C6orf142, CIP i proteine u interakciji s laminom A-tipa obogaćene mišićima.[1][3]

Lokus i veličina

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] Ima 19 egzona i13 prerađenih varianti veličine od 23 do 57 kDa.[5][6]

Ortolozi i homolozi

MLIP se nalazi samo u amniota (gmizavci, ptice i sisari), gdje je visoko konzervirana. Mšji homolog je 2310046A06rik.[1][6]

Ekspresija i interakcije

MLI je eksprimiran u cijelom tijelu, s većim nivoima u srčanimmišićnim 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

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]

Reference

  1. ^ a b c "Entrez Gene: C6orf142 chromosome 6 open reading frame 142".
  2. ^ "UniProt, Q5VWP3" (jezik: engleski). Pristupljeno 3. 10. 2021.
  3. ^ 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.
  4. ^ "MLIP Gene (Protein Coding)". Genecards.org. GeneCards, Human gene database. Pristupljeno 10. 11. 2016.
  5. ^ Šablon:Ensembl
  6. ^ 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.

Dopunska literatura

Vanjski linkovi

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