EPPK1

EPPK1
Identifikatori
Aliasi	EPPK1
Vanjski ID-jevi	OMIM: 607553 MGI: 2386306 HomoloGene: 20006 GeneCards: EPPK1
Lokacija gena (čovjek)
Hrom.	Hromosom 8 (čovjek)
Kraj	143,878,467 bp
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
	83481
	223650
	ENSG00000261150
	ENSMUSG00000115388
	P58107
	Q8R0W0
	NM_031308
	NM_144848
	NP_112598
	NP_659097
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/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

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

10	20	30	40	50
MSGHTLPPLP	VPGTNSTEQA	SVPRAMAATL	GAGTPPRPQA	RSIAGVYVEA
SGQAQSVYAA	MEQGLLPAGL	GQALLEAQAA	TGGLVDLARG	QLLPVSKALQ
QGLVGLELKE	KLLAAERATT	GYPDPYGGEK	LALFQAIGKE	VVDRALGQSW
LEVQLATGGL	VDPAQGVLVA	PEPACHQGLL	DRETWHKLSE	LEPGTGDLRF
LNPNTLERLT	YHQLLERCVR	APGSGLALLP	LKITFRSMGG	AVSAAELLEV
GILDEQAVQG	LREGRLAAVD	VSARAEVRRY	LEGTGSVAGV	VLLPEGHKKS
FFQAATEHLL	PMGTALPLLE	AQAATHTLVD	PITGQRLWVD	EAVRAGLVSP
ELHEQLLVAE	QAVTGHHDPF	SGSQIPLFQA	MKKGLVDRPL	ALRLLDAQLA
TGGLVCPARR	LRLPLEAALR	CGCLDEDTQR	QLSQAGSFSD	GTHGGLRYEQ
LLALCVTDPE	TGLAFLPLSG	GPRGGEPQGP	PFIKYSTRQA	LSTATATVSV
GKFRGRPVSL	WELLFSEAIS	SEQRAMLAQQ	YQEGTLSVEK	LAAELSATLE
QAAATARVTF	SGLRDTVTPG	ELLKAEIIDQ	DLYERLEHGQ	ATAKDVGSLA
SAQRYLQGTG	CIAGLLLPGS	QERLSIYEAR	CKGLLRPGTA	LILLEAQAAT
GFIIDPKANK	GHSVEEALRA	AVIGPDVFAK	LLSAERAVTG	YTDPYTGQQI
SLFQAMQKGL	IVREHGIRLL	EAQIATGGVI	DPVHSHRVPV	DVAYRRGYFD
QMLNLILLDP	SDDTKGFFDP	NTHENLTYLQ	LLERCVRDPE	TGLYLLPLSS
TQSPLVDSAT	QQAFQNLLLS	VKYGRFQGQR	VSAWELINSE	YFSEGRRRQL
LRRYRQREVT	LGQVAKLLEA	ETQRQADIML	PALRSRVTVH	QLLEAGIIDQ
QLLDQVLAGT	ISPEALLLMD	GVRRYLCGLG	AVGGVRLLPS	GQRLSLYQAM
RQKLLGPRVA	LALLEAQAAT	GTIMDPHSPE	SLSVDEAVRR	GVVGPELYGR
LKRAEGAIAG	FRDPFSGKQV	SVFQAMKKGL	IPWEQAARLL	EAQVATGGII
DPTSHHHLPM	PVAIQRGYVD	QEMETALSSS	SETFPTPDGQ	GRTSYAQLLE
ECPRDETSGL	HLLPLPESAP	ALPTEEQVQR	SLQAVPGAKD	GTSLWDLLSS
CHFTEEQRRG	LLEDVQEGRT	TVPQLLASVQ	RWVQETKLLA	QARVMVPGPR
GEVPAVWLLD	AGIITQETLE	ALAQGTQSPA	QVAEQPAVKA	CLWGTGCVAG
VLLQPSGAKA	SIAQAVRDGL	LPTGLGQRLL	EAQVASGFLV	DPLNNQRLSV
EDAVKVGLVG	RELSEQLGQA	ERAAAGYPDP	YSRASLSLWQ	AMEKGLVPQN
EGLPLLQVQL	ATGGVVDPVH	GVHLPQAAAC	RLGLLDTQTS	QVLTAVDKDN
KFFFDPSARD	QVTYQQLRER	CVCDSETGLL	LLPLPSDTVL	EVDDHTAVAL
RAMKVPVSTG	RFKGCSVSLW	DLLLSEYVGA	DKRRELVALC	RSGRAAALRQ
VVSAVTALVE	AAERQPLQAT	FRGLRKQVSA	RDLFRAQLIS	RKTLDELSQG
TTTVKEVAEM	DSVKRSLEGG	NFIAGVLIQG	TQERMSIPEA	LRRHILRPGT
ALVLLEAQAA	TGFIIDPAEN	RKLTVEEAFK	AGMFGKETYV	KLLSAERAVT
GYTDPYTGQQ	ISLFQAMQKD	LIVREHGIRL	LEAQIATGGI	IDPVHSHRVP
VDVAYRCGYF	DEEMNRILAD	PSDDTKGFFD	PNTHENLTYL	QLLERCVEDP
ETGLYLLQII	KKGENYVYIN	EATRHVLQSR	TAKMRVGRFA	DQVVSFWDLL
SSPYFTEDRK	RELIQEYGAQ	SGGLEKLLEI	ITTTIEETET	QNQGIKVAAI
RGEVTAADLF	NSRVIDQKTL	HTLRVGRTGG	QALSTLECVK	PYLEGSDCIA
GVTVPSTREV	MSLHEASRKE	LIPAAFATWL	LEAQAATGFL	LDPCTRQKLS
VDEAVDVGLV	NEELRERLLK	AERAATGYRD	PATGDTIPLF	QAMQKQLIEK
AEALRLLEVQ	VATGGVIDPQ	HHHRLPLETA	YRRGCLHKDI	YALISDQKHM
RKRFVDPNTQ	EKVSYRELQE	RCRPQEDTGW	VLFPVNKAAR	DSEHIDDETR
RALEAEQVEI	TVGRFRGQKP	TLWALLNSEY	VTEEKKLQLV	RMYRTHTRRA
LQTVAQLILE	LIEKQETSNK	HLWFQGIRRQ	ITASELLSSA	IITEEMLQDL
ETGRSTTQEL	MEDDRVKRYL	EGTSCIAGVL	VPAKDQPGRQ	EKMSIYQAMW
KGVLRPGTAL	VLLEAQAATG	FVIDPVRNLR	LSVEEPVPAG	VVGSEIQEKL
LSAERAVTGY	TDPYTGQQIS	LFQAMQKDLI	VREHGIRLLE	AQIATGGVID
PVHSHRVPVD	VAYRRGYFDE	EMNRVLADPS	DDTKGFFDPN	THENLTYVQL
LRRCVPDPDT	GLYMLQLAGR	GSAVHQLSEE	LRCALRDARV	TPGSGALQGQ
SVSVWELLFY	REVSEDRRQD	LLSRYRAGTL	TVEELGATLT	SLLAQAQAQA
RAEAEAGSPR	PDPREALRAA	TMEVKVGRLR	GRAVPVWDVL	ASGYVSRAAR
EELLAEFGSG	TLDLPALTRR	LTAIIEEAEE	APGARPQLQD	ARRGPREPGP
AGRGDGDSGR	SQREGQGEGE	TQEAAAAAAA	ARRQEQTLRD	ATMEVQRGQF
QGRPVSVWDV	LFSSYLSEAR	RDELLAQHAA	GALGLPDLVA	VLTRVIEETE
ERLSKVSFRG	LRRQVSASEL	HTSGILGPET	LRDLAQGTKT	LQEVTEMDSV
KRYLEGTSCI	AGVLVPAKDQ	PGRQEKMSIY	QAMWKGVLRP	GTALVLLEAQ
AATGFVIDPV	RNLRLSVEEA	VAAGVVGGEI	QEKLLSAERA	VTGYTDPYTG
QQISLFQAMQ	KDLIVREHGI	RLLEAQIATG	GVIDPVHSHR	VPVDVAYRRG
YFDEEMNRVL	ADPSDDTKGF	FDPNTHENLT	YVQLLRRCVP	DPDTGLYMLQ
LAGRGSAVHQ	LSEELRCALR	DARVTPGSGA	LQGQSVSVWE	LLFYREVSED
RRQDLLSRYR	AGTLTVEELG	ATLTSLLAQA	QAQARAEAEA	GSPRPDPREA
LRAATMEVKV	GRLRGRAVPV	WDVLASGYVS	GAAREELLAE	FGSGTLDLPA
LTRRLTAIIE	EAEEAPGARP	QLQDAWRGPR	EPGPAGRGDG	DSGRSQREGQ
GEGETQEAAA	AAAAARRQEQ	TLRDATMEVQ	RGQFQGRPVS	VWDVLFSSYL
SEARRDELLA	QHAAGALGLP	DLVAVLTRVI	EETEERLSKV	SFRGLRRQVS
ASELHTSGIL	GPETLRDLAQ	GTKTLQEVTE	MDSVKRYLEG	TSCIAGVLVP
AKDQPGRQEK	MSIYQAMWKG	VLRPGTALVL	LEAQAATGFV	IDPVRNLRLS
VEEAVAAGVV	GGEIQEKLLS	AERAVTGYTD	PYTGQQISLF	QAMQKDLIVR
EHGIRLLEAQ	IATGGVIDPV	HSHRVPVDVA	YRRGYFDEEM	NRVLADPSDD
TKGFFDPNTH	ENLTYVQLLR	RCVPDPDTGL	YMLQLAGRGS	AVHQLSEELR
CALRDARVTP	GSGALQGQSV	SVWELLFYRE	VSEDRRQDLL	SRYRAGTLTV
EELGATLTSL	LAQAQAQARA	EAEAGSPRPD	PREALRAATM	EVKVGRLRGR
AVPVWDVLAS	GYVSGAAREE	LLAEFGSGTL	DLPALTRRLT	AIIEEAEEAP
GARPQLQDAW	RGPREPGPAG	RGDGDSGRSQ	REGQGEGETQ	EAAAAAAAAR
RQEQTLRDAT	MEVQRGQFQG	RPVSVWDVLF	SSYLSEARRD	ELLAQHAAGA
LGLPDLVAVL	TRVIEETEER	LSKVSFRGLR	RQVSASELHT	SGILGPETLR
DLAQGTKTLQ	EVTEMDSVKR	YLEGTSCIAG	VLVPAKDQPG	RQEKMSIYQA
MWKGVLRPGT	ALVLLEAQAA	TGFVIDPVRN	LRLSVEEAVA	AGVVGGEIQE
KLLSAERAVT	GYTDPYTGQQ	ISLFQAMQKD	LIVREHGIRL	LEAQIATGGV
IDPVHSHRVP	VDVAYRRGYF	DEEMNRVLAD	PSDDTKGFFD	PNTHENLTYV
QLLRRCVPDP	DTGLYMLQLA	GRGSAVHQLS	EELRCALRDA	RVTPGSGALQ
GQSVSVWELL	FYREVSEDRR	QDLLSRYRAS	TLTVEELGAT	LTSLLAQAQA
QARAEAEAGS	PRPDPREALR	AATMEVKVGR	LRGRAVPVWD	VLASGYVSRA
AREELLAEFG	SGTLDLPALT	RRLTAIIEEA	EEAPGARPQL	QDAWRGPREP
GPAGRGDGDS	GRSQREGQGE	GETQEAAAAT	AAARRQEQTL	RDATMEVQRG
QFQGRPVSVW	DVLFSSYLSE	ARRDELLAQH	AAGALGLPDL	VAVLTRVIEE
TEERLSKVSF	RGLRRQVSAS	ELHTSGILGP	ETLRDLAQGT	KTLQEVTEMD
SVKRYLEGTS	CIAGVLVPAK	DQPGRQEKMS	IYQAMWKGVL	RPGTALVLLE
AQAATGFVID	PVRNLRLSVE	EAVAAGVVGG	EIQEKLLSAE	RAVTGYTDPY
TGQQISLFQA	MQKDLIVREH	GIRLLEAQIA	TGGVIDPVHS	HRVPVDVAYR
RGYFDEEMNR	VLADPSDDTK	GFFDPNTHEN	LTYVQLLRRC	VPDPDTGLYM
LQLAGRGSAV	HQLSEELRCA	LRDARVTPGS	GALQGQSVSV	WELLFYREVS
EDRRQDLLSR	YRAGTLTVEE	LGATLTSLLA	QAQAQARAEA	EAGSPRPDPR
EALRAATMEV	KVGRLRGRAV	PVWDVLASGY	VSGAAREELL	AEFGSGTLDL
PALTRRLTAI	IEEAEEAPGA	RPQLQDAWRG	PREPGPAGRG	DGDSGRSQRE
GQGEGETQEA	AAAAAAARRQ	EQTLRDATME	VQRGQFQGRP	VSVWDVLFSS
YLSEARRDEL	LAQHAAGALG	LPDLVAVLTR	VIEETEERLS	KVSFRGLRRQ
VSASELHTSG	ILGPETLRDL	AQGTKTLQEV	TEMDSVKRYL	EGTSCIAGVL
VPAKDQPGRQ	EKMSIYQAMW	KGVLRPGTAL	VLLEAQAATG	FVIDPVRNLR
LSVEEAVAAG	VVGGEIQEKL	LSAERAVTGY	TDPYTGQQIS	LFQAMQKDLI
VREHGIRLLE	AQIATGGVID	PVHSHRVPVD	VAYRRGYFDE	EMNRVLADPS
DDTKGFFDPN	THENLTYLQL	LQRATLDPET	GLLFLSLSLQ

C: Cistein
D: Aspartat
E: Glutamat
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin

W: Triptofan

Y: Tirozin

Funkcija

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000261150 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^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.
^ 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.
^ "Entrez Gene: EPPK1 epiplakin 1".
^ 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.
^ Stewart., Scherer (2008). A short guide to the human genome. Cold Spring Harbor Laboratory Press. ISBN 978-0-87969-791-4. OCLC 301791139.
^ "UniProt, P58107" (jezik: engleski). Pristupljeno 16. 9. 2021.
^ 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.
^ ^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

Fujiwara S, Kohno K, Iwamatsu A, Naito I, Shinkai H (maj 1996). "Identification of a 450-kDa human epidermal autoantigen as a new member of the plectin family". The Journal of Investigative Dermatology. 106 (5): 1125–30. doi:10.1111/1523-1747.ep12340171. PMID 8618051.
Blagoev B, Kratchmarova I, Ong SE, Nielsen M, Foster LJ, Mann M (mart 2003). "A proteomics strategy to elucidate functional protein-protein interactions applied to EGF signaling". Nature Biotechnology. 21 (3): 315–8. doi:10.1038/nbt790. PMID 12577067. S2CID 26838266.
Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J (maj 2003). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nature Biotechnology. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801. S2CID 23783563.
Spazierer D, Fuchs P, Pröll V, Janda L, Oehler S, Fischer I, et al. (august 2003). "Epiplakin gene analysis in mouse reveals a single exon encoding a 725-kDa protein with expression restricted to epithelial tissues". The Journal of Biological Chemistry. 278 (34): 31657–66. doi:10.1074/jbc.M303055200. PMID 12791695.
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.
Kim JE, Tannenbaum SR, White FM (2005). "Global phosphoproteome of HT-29 human colon adenocarcinoma cells". Journal of Proteome Research. 4 (4): 1339–46. doi:10.1021/pr050048h. PMID 16083285.
Nousiainen M, Silljé HH, Sauer G, Nigg EA, Körner R (april 2006). "Phosphoproteome analysis of the human mitotic spindle". Proceedings of the National Academy of Sciences of the United States of America. 103 (14): 5391–6. Bibcode:2006PNAS..103.5391N. doi:10.1073/pnas.0507066103. PMC 1459365. PMID 16565220.
Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (novembar 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.

[refGRCh38Ensembl-1] 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.

[Fujiwara_2001-4] 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.

[pmid15671067-5] 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.

[entrez-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.

[UniProt-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.

[Kokado_2016-11] 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.

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