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EPPK1

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EPPK1
Identifikatori
AliasiEPPK1
Vanjski ID-jeviOMIM: 607553 MGI: 2386306 HomoloGene: 20006 GeneCards: EPPK1
Lokacija gena (čovjek)
Hromosom 8 (čovjek)
Hrom.Hromosom 8 (čovjek)[1]
Hromosom 8 (čovjek)
Genomska lokacija za EPPK1
Genomska lokacija za EPPK1
Bend8q24.3Početak143,857,324 bp[1]
Kraj143,878,467 bp[1]
Ontologija gena
Molekularna funkcija vezivanje sa RNK
cytoskeletal protein binding
intermediate filament binding
structural molecule activity
keratin filament binding
Ćelijska komponenta citoplazma
citoskelet
ćelijska membrana
bicellular tight junction
membrana
basolateral plasma membrane
apicolateral plasma membrane
međućelijske veze
Hemidezmosom
projekcija ćelije
keratin filament
cell periphery
perinucleolar compartment
Intermedijarni filament
Biološki proces negative regulation of keratinocyte proliferation
negative regulation of cell migration
Zarastanje rana
intermediate filament organization
negative regulation of epithelial cell proliferation
negative regulation of keratinocyte migration
negative regulation of wound healing
regulation of epithelium regeneration
cytoskeleton organization
intermediate filament cytoskeleton organization
intermediate filament bundle assembly
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_031308

NM_144848

RefSeq (bjelančevina)

NP_112598

NP_659097

Lokacija (UCSC)Chr 8: 143.86 – 143.88 Mbn/a
PubMed pretraga[2][3]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Epiplakin je protein koji je kod ljudi kodiran genom EPPK1.[4][5][6] Pripada porodici plakinskih proteina i nalazi se u ljudskoj epidermi.[4] Sastoji se od 13 domena, od kojih su svi slični domenu B koji se nalazi na C-kraju ljudske epiderme i srčanomišićnog proteina dezmoplakina.[4] Domeni u epiplakinu kreću se od 46-70% u homologiji ovog B domena u dezmoplakinu.[7] Prvi put je identificiran kao autoantigen kod osobe koja boluje od rijetke autoimunske kožne bolesti.[4] Epiplakin je sekvenciran tako da ima ukupno 5.065 aminokiselinskih ostataka i, na osnovu aminokiselinskog sastava, ima molekulsku masu od oko 552 kDa.[4] Gen EPPK1 je značajan po nedostatku introna u svom kodirajućem području - cijelo njegovo kodirajuće područje od 15 kbp kodirano je jednim exon.[8]

Aminokiselinska sekvenca

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Dužina polipeptidnog lanca je 5.090 aminokiselina, а molekulska težina 555.621 Da.[9]

1020304050
MSGHTLPPLPVPGTNSTEQASVPRAMAATLGAGTPPRPQARSIAGVYVEA
SGQAQSVYAAMEQGLLPAGLGQALLEAQAATGGLVDLARGQLLPVSKALQ
QGLVGLELKEKLLAAERATTGYPDPYGGEKLALFQAIGKEVVDRALGQSW
LEVQLATGGLVDPAQGVLVAPEPACHQGLLDRETWHKLSELEPGTGDLRF
LNPNTLERLTYHQLLERCVRAPGSGLALLPLKITFRSMGGAVSAAELLEV
GILDEQAVQGLREGRLAAVDVSARAEVRRYLEGTGSVAGVVLLPEGHKKS
FFQAATEHLLPMGTALPLLEAQAATHTLVDPITGQRLWVDEAVRAGLVSP
ELHEQLLVAEQAVTGHHDPFSGSQIPLFQAMKKGLVDRPLALRLLDAQLA
TGGLVCPARRLRLPLEAALRCGCLDEDTQRQLSQAGSFSDGTHGGLRYEQ
LLALCVTDPETGLAFLPLSGGPRGGEPQGPPFIKYSTRQALSTATATVSV
GKFRGRPVSLWELLFSEAISSEQRAMLAQQYQEGTLSVEKLAAELSATLE
QAAATARVTFSGLRDTVTPGELLKAEIIDQDLYERLEHGQATAKDVGSLA
SAQRYLQGTGCIAGLLLPGSQERLSIYEARCKGLLRPGTALILLEAQAAT
GFIIDPKANKGHSVEEALRAAVIGPDVFAKLLSAERAVTGYTDPYTGQQI
SLFQAMQKGLIVREHGIRLLEAQIATGGVIDPVHSHRVPVDVAYRRGYFD
QMLNLILLDPSDDTKGFFDPNTHENLTYLQLLERCVRDPETGLYLLPLSS
TQSPLVDSATQQAFQNLLLSVKYGRFQGQRVSAWELINSEYFSEGRRRQL
LRRYRQREVTLGQVAKLLEAETQRQADIMLPALRSRVTVHQLLEAGIIDQ
QLLDQVLAGTISPEALLLMDGVRRYLCGLGAVGGVRLLPSGQRLSLYQAM
RQKLLGPRVALALLEAQAATGTIMDPHSPESLSVDEAVRRGVVGPELYGR
LKRAEGAIAGFRDPFSGKQVSVFQAMKKGLIPWEQAARLLEAQVATGGII
DPTSHHHLPMPVAIQRGYVDQEMETALSSSSETFPTPDGQGRTSYAQLLE
ECPRDETSGLHLLPLPESAPALPTEEQVQRSLQAVPGAKDGTSLWDLLSS
CHFTEEQRRGLLEDVQEGRTTVPQLLASVQRWVQETKLLAQARVMVPGPR
GEVPAVWLLDAGIITQETLEALAQGTQSPAQVAEQPAVKACLWGTGCVAG
VLLQPSGAKASIAQAVRDGLLPTGLGQRLLEAQVASGFLVDPLNNQRLSV
EDAVKVGLVGRELSEQLGQAERAAAGYPDPYSRASLSLWQAMEKGLVPQN
EGLPLLQVQLATGGVVDPVHGVHLPQAAACRLGLLDTQTSQVLTAVDKDN
KFFFDPSARDQVTYQQLRERCVCDSETGLLLLPLPSDTVLEVDDHTAVAL
RAMKVPVSTGRFKGCSVSLWDLLLSEYVGADKRRELVALCRSGRAAALRQ
VVSAVTALVEAAERQPLQATFRGLRKQVSARDLFRAQLISRKTLDELSQG
TTTVKEVAEMDSVKRSLEGGNFIAGVLIQGTQERMSIPEALRRHILRPGT
ALVLLEAQAATGFIIDPAENRKLTVEEAFKAGMFGKETYVKLLSAERAVT
GYTDPYTGQQISLFQAMQKDLIVREHGIRLLEAQIATGGIIDPVHSHRVP
VDVAYRCGYFDEEMNRILADPSDDTKGFFDPNTHENLTYLQLLERCVEDP
ETGLYLLQIIKKGENYVYINEATRHVLQSRTAKMRVGRFADQVVSFWDLL
SSPYFTEDRKRELIQEYGAQSGGLEKLLEIITTTIEETETQNQGIKVAAI
RGEVTAADLFNSRVIDQKTLHTLRVGRTGGQALSTLECVKPYLEGSDCIA
GVTVPSTREVMSLHEASRKELIPAAFATWLLEAQAATGFLLDPCTRQKLS
VDEAVDVGLVNEELRERLLKAERAATGYRDPATGDTIPLFQAMQKQLIEK
AEALRLLEVQVATGGVIDPQHHHRLPLETAYRRGCLHKDIYALISDQKHM
RKRFVDPNTQEKVSYRELQERCRPQEDTGWVLFPVNKAARDSEHIDDETR
RALEAEQVEITVGRFRGQKPTLWALLNSEYVTEEKKLQLVRMYRTHTRRA
LQTVAQLILELIEKQETSNKHLWFQGIRRQITASELLSSAIITEEMLQDL
ETGRSTTQELMEDDRVKRYLEGTSCIAGVLVPAKDQPGRQEKMSIYQAMW
KGVLRPGTALVLLEAQAATGFVIDPVRNLRLSVEEPVPAGVVGSEIQEKL
LSAERAVTGYTDPYTGQQISLFQAMQKDLIVREHGIRLLEAQIATGGVID
PVHSHRVPVDVAYRRGYFDEEMNRVLADPSDDTKGFFDPNTHENLTYVQL
LRRCVPDPDTGLYMLQLAGRGSAVHQLSEELRCALRDARVTPGSGALQGQ
SVSVWELLFYREVSEDRRQDLLSRYRAGTLTVEELGATLTSLLAQAQAQA
RAEAEAGSPRPDPREALRAATMEVKVGRLRGRAVPVWDVLASGYVSRAAR
EELLAEFGSGTLDLPALTRRLTAIIEEAEEAPGARPQLQDARRGPREPGP
AGRGDGDSGRSQREGQGEGETQEAAAAAAAARRQEQTLRDATMEVQRGQF
QGRPVSVWDVLFSSYLSEARRDELLAQHAAGALGLPDLVAVLTRVIEETE
ERLSKVSFRGLRRQVSASELHTSGILGPETLRDLAQGTKTLQEVTEMDSV
KRYLEGTSCIAGVLVPAKDQPGRQEKMSIYQAMWKGVLRPGTALVLLEAQ
AATGFVIDPVRNLRLSVEEAVAAGVVGGEIQEKLLSAERAVTGYTDPYTG
QQISLFQAMQKDLIVREHGIRLLEAQIATGGVIDPVHSHRVPVDVAYRRG
YFDEEMNRVLADPSDDTKGFFDPNTHENLTYVQLLRRCVPDPDTGLYMLQ
LAGRGSAVHQLSEELRCALRDARVTPGSGALQGQSVSVWELLFYREVSED
RRQDLLSRYRAGTLTVEELGATLTSLLAQAQAQARAEAEAGSPRPDPREA
LRAATMEVKVGRLRGRAVPVWDVLASGYVSGAAREELLAEFGSGTLDLPA
LTRRLTAIIEEAEEAPGARPQLQDAWRGPREPGPAGRGDGDSGRSQREGQ
GEGETQEAAAAAAAARRQEQTLRDATMEVQRGQFQGRPVSVWDVLFSSYL
SEARRDELLAQHAAGALGLPDLVAVLTRVIEETEERLSKVSFRGLRRQVS
ASELHTSGILGPETLRDLAQGTKTLQEVTEMDSVKRYLEGTSCIAGVLVP
AKDQPGRQEKMSIYQAMWKGVLRPGTALVLLEAQAATGFVIDPVRNLRLS
VEEAVAAGVVGGEIQEKLLSAERAVTGYTDPYTGQQISLFQAMQKDLIVR
EHGIRLLEAQIATGGVIDPVHSHRVPVDVAYRRGYFDEEMNRVLADPSDD
TKGFFDPNTHENLTYVQLLRRCVPDPDTGLYMLQLAGRGSAVHQLSEELR
CALRDARVTPGSGALQGQSVSVWELLFYREVSEDRRQDLLSRYRAGTLTV
EELGATLTSLLAQAQAQARAEAEAGSPRPDPREALRAATMEVKVGRLRGR
AVPVWDVLASGYVSGAAREELLAEFGSGTLDLPALTRRLTAIIEEAEEAP
GARPQLQDAWRGPREPGPAGRGDGDSGRSQREGQGEGETQEAAAAAAAAR
RQEQTLRDATMEVQRGQFQGRPVSVWDVLFSSYLSEARRDELLAQHAAGA
LGLPDLVAVLTRVIEETEERLSKVSFRGLRRQVSASELHTSGILGPETLR
DLAQGTKTLQEVTEMDSVKRYLEGTSCIAGVLVPAKDQPGRQEKMSIYQA
MWKGVLRPGTALVLLEAQAATGFVIDPVRNLRLSVEEAVAAGVVGGEIQE
KLLSAERAVTGYTDPYTGQQISLFQAMQKDLIVREHGIRLLEAQIATGGV
IDPVHSHRVPVDVAYRRGYFDEEMNRVLADPSDDTKGFFDPNTHENLTYV
QLLRRCVPDPDTGLYMLQLAGRGSAVHQLSEELRCALRDARVTPGSGALQ
GQSVSVWELLFYREVSEDRRQDLLSRYRASTLTVEELGATLTSLLAQAQA
QARAEAEAGSPRPDPREALRAATMEVKVGRLRGRAVPVWDVLASGYVSRA
AREELLAEFGSGTLDLPALTRRLTAIIEEAEEAPGARPQLQDAWRGPREP
GPAGRGDGDSGRSQREGQGEGETQEAAAATAAARRQEQTLRDATMEVQRG
QFQGRPVSVWDVLFSSYLSEARRDELLAQHAAGALGLPDLVAVLTRVIEE
TEERLSKVSFRGLRRQVSASELHTSGILGPETLRDLAQGTKTLQEVTEMD
SVKRYLEGTSCIAGVLVPAKDQPGRQEKMSIYQAMWKGVLRPGTALVLLE
AQAATGFVIDPVRNLRLSVEEAVAAGVVGGEIQEKLLSAERAVTGYTDPY
TGQQISLFQAMQKDLIVREHGIRLLEAQIATGGVIDPVHSHRVPVDVAYR
RGYFDEEMNRVLADPSDDTKGFFDPNTHENLTYVQLLRRCVPDPDTGLYM
LQLAGRGSAVHQLSEELRCALRDARVTPGSGALQGQSVSVWELLFYREVS
EDRRQDLLSRYRAGTLTVEELGATLTSLLAQAQAQARAEAEAGSPRPDPR
EALRAATMEVKVGRLRGRAVPVWDVLASGYVSGAAREELLAEFGSGTLDL
PALTRRLTAIIEEAEEAPGARPQLQDAWRGPREPGPAGRGDGDSGRSQRE
GQGEGETQEAAAAAAAARRQEQTLRDATMEVQRGQFQGRPVSVWDVLFSS
YLSEARRDELLAQHAAGALGLPDLVAVLTRVIEETEERLSKVSFRGLRRQ
VSASELHTSGILGPETLRDLAQGTKTLQEVTEMDSVKRYLEGTSCIAGVL
VPAKDQPGRQEKMSIYQAMWKGVLRPGTALVLLEAQAATGFVIDPVRNLR
LSVEEAVAAGVVGGEIQEKLLSAERAVTGYTDPYTGQQISLFQAMQKDLI
VREHGIRLLEAQIATGGVIDPVHSHRVPVDVAYRRGYFDEEMNRVLADPS
DDTKGFFDPNTHENLTYLQLLQRATLDPETGLLFLSLSLQ

Funkcija

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Utvrđeno je da se epiplakin veže za keratinske niti i može pridonijeti inhibiranju njihovog rasta. Sumnja se na to da se epiplakin vezan za keratin nalazi prvenstveno na granama i krajevima keratinskih niti.[10] Blokiranje ekspresije epiplakina u kultiviranim epitelnim ćelijama rožnjače putem siRNK povezano je s bržim zatvaranjem rana i bržom migracijom rožnjačnih ćelija.[11] To može biti posljedica gubitka epiplakina, što dovodi do modifikacije citoskeleta u epitelnim ćelijama.[11]

Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000261150 - Ensembl, maj 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ a b c d e Fujiwara S, Takeo N, Otani Y, Parry DA, Kunimatsu M, Lu R, et al. (april 2001). "Epiplakin, a novel member of the Plakin family originally identified as a 450-kDa human epidermal autoantigen. Structure and tissue localization". The Journal of Biological Chemistry. 276 (16): 13340–7. doi:10.1074/jbc.M011386200. PMID 11278896.
  5. ^ Jang SI, Kalinin A, Takahashi K, Marekov LN, Steinert PM (februar 2005). "Characterization of human epiplakin: RNAi-mediated epiplakin depletion leads to the disruption of keratin and vimentin IF networks". Journal of Cell Science. 118 (Pt 4): 781–93. doi:10.1242/jcs.01647. PMID 15671067.
  6. ^ "Entrez Gene: EPPK1 epiplakin 1".
  7. ^ Takeo N, Wang W, Matsuo N, Sumiyoshi H, Yoshioka H, Fujiwara S (novembar 2003). "Structure and heterogeneity of the human gene for epiplakin (EPPK1)". The Journal of Investigative Dermatology. 121 (5): 1224–6. doi:10.1046/j.1523-1747.2003.12550_5.x. PMID 14708632.
  8. ^ Stewart., Scherer (2008). A short guide to the human genome. Cold Spring Harbor Laboratory Press. ISBN 978-0-87969-791-4. OCLC 301791139.
  9. ^ "UniProt, P58107" (jezik: engleski). Pristupljeno 16. 9. 2021.
  10. ^ Wang W, Sumiyoshi H, Yoshioka H, Fujiwara S (august 2006). "Interactions between epiplakin and intermediate filaments". The Journal of Dermatology. 33 (8): 518–27. doi:10.1111/j.1346-8138.2006.00127.x. PMID 16923132. S2CID 25372989.
  11. ^ a b Kokado M, Okada Y, Miyamoto T, Yamanaka O, Saika S (maj 2016). "Effects of epiplakin-knockdown in cultured corneal epithelial cells". BMC Research Notes. 9 (1): 278. doi:10.1186/s13104-016-2082-7. PMC 4873999. PMID 27206504.

Dopunska literatura

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