Wikipedia

DSP (gen)

Dezmoplakin jest protein koji je kod ljudi kodiran genom DSP.[5][6][7] Dezmoplakin je kritična komponenta dezmosomskih struktura u srčanim mišićima i epidermnim ćelijama, koje funkcioniraju za održavanje strukturnog integriteta na susjednim međućelijskim kontaktima. U srčanom mišiću, dezmoplakin se nalazi na interkalarnim diskovima koji mehanički povezuje srčane ćelije, kako bi funkcionirale u koordiniranoj sincicijskoj strukturi. Pokazalo se da mutacije u dezmoplakinu imaju ulogu u proširenoj kardiomiopatiji, aritmogenoj kardiomiopatiji desne komore, prugastoj dlanskostopalnoj keratodermiji, Carvajalljevom sindromu i paravajajoplastičnom pemfigusu.

DSP
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

3R6N, 1LM5, 1LM7, 5DZZ

Identifikatori
AliasiDSP
Vanjski ID-jeviOMIM: 125647 MGI: 109611 HomoloGene: 37922 GeneCards: DSP
Lokacija gena (čovjek)
Hromosom 6 (čovjek)
Hrom.Hromosom 6 (čovjek)[1]
Hromosom 6 (čovjek)
Genomska lokacija za DSP
Genomska lokacija za DSP
Bend6p24.3Početak7,541,617 bp[1]
Kraj7,586,714 bp[1]
Lokacija gena (miš)
Hromosom 13 (miš)
Hrom.Hromosom 13 (miš)[2]
Hromosom 13 (miš)
Genomska lokacija za DSP
Genomska lokacija za DSP
Bend13|13 A3.3Početak38,335,270 bp[2]
Kraj38,382,553 bp[2]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija• protein-macromolecule adaptor activity
• scaffold protein binding
• structural molecule activity
• structural constituent of cytoskeleton
• GO:0001948, GO:0016582 vezivanje za proteine
• cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication
• cell adhesion molecule binding
• protein kinase C binding
• vezivanje sa RNK
Ćelijska komponenta• citoplazma
• membrana
• Interkalirani disk
• cell-cell junction
• ćelijska membrana
• Dezmosom
• međućelijske veze
• basolateral plasma membrane
• fascia adherens
• Egzosom
• citoskelet
• Intermedijarni filament
• jedro
• GO:0005578 Vanćelijski matriks
• cornified envelope
• ficolin-1-rich granule membrane
Biološki proces• intermediate filament organization
• desmosome organization
• ventricular compact myocardium morphogenesis
• Zarastanje rana
• bundle of His cell-Purkinje myocyte adhesion involved in cell communication
• keratinocyte differentiation
• GO:0051357, GO:0051358, GO:0051359 peptide cross-linking
• protein localization to adherens junction
• epidermis development
• intermediate filament cytoskeleton organization
• adherens junction organization
• regulation of heart rate by cardiac conduction
• regulation of ventricular cardiac muscle cell action potential
• skin development
• keratinization
• neutrophil degranulation
• cornification
• cell-cell adhesion
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez

1832

109620

Ensembl

ENSG00000096696

ENSMUSG00000054889

UniProt

P15924

E9Q557

RefSeq (mRNK)

NM_001008844
NM_004415
NM_001319034

NM_023842

RefSeq (bjelančevina)

NP_001008844
NP_001305963
NP_004406

NP_076331

Lokacija (UCSC)Chr 6: 7.54 – 7.59 MbChr 13: 38.34 – 38.38 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš
Ćelijska adhezija u dezmosomu

Aminokiselinska sekvenca

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Dužina polipeptidnog lanca je 2.871 aminokiselina, а molekulska težina 331.774 Da.[8].

1020304050
MSCNGGSHPRINTLGRMIRAESGPDLRYEVTSGGGGTSRMYYSRRGVITD
QNSDGYCQTGTMSRHQNQNTIQELLQNCSDCLMRAELIVQPELKYGDGIQ
LTRSRELDECFAQANDQMEILDSLIREMRQMGQPCDAYQKRLLQLQEQMR
ALYKAISVPRVRRASSKGGGGYTCQSGSGWDEFTKHVTSECLGWMRQQRA
EMDMVAWGVDLASVEQHINSHRGIHNSIGDYRWQLDKIKADLREKSAIYQ
LEEEYENLLKASFERMDHLRQLQNIIQATSREIMWINDCEEEELLYDWSD
KNTNIAQKQEAFSIRMSQLEVKEKELNKLKQESDQLVLNQHPASDKIEAY
MDTLQTQWSWILQITKCIDVHLKENAAYFQFFEEAQSTEAYLKGLQDSIR
KKYPCDKNMPLQHLLEQIKELEKEREKILEYKRQVQNLVNKSKKIVQLKP
RNPDYRSNKPIILRALCDYKQDQKIVHKGDECILKDNNERSKWYVTGPGG
VDMLVPSVGLIIPPPNPLAVDLSCKIEQYYEAILALWNQLYINMKSLVSW
HYCMIDIEKIRAMTIAKLKTMRQEDYMKTIADLELHYQEFIRNSQGSEMF
GDDDKRKIQSQFTDAQKHYQTLVIQLPGYPQHQTVTTTEITHHGTCQDVN
HNKVIETNRENDKQETWMLMELQKIRRQIEHCEGRMTLKNLPLADQGSSH
HITVKINELKSVQNDSQAIAEVLNQLKDMLANFRGSEKYCYLQNEVFGLF
QKLENINGVTDGYLNSLCTVRALLQAILQTEDMLKVYEARLTEEETVCLD
LDKVEAYRCGLKKIKNDLNLKKSLLATMKTELQKAQQIHSQTSQQYPLYD
LDLGKFGEKVTQLTDRWQRIDKQIDFRLWDLEKQIKQLRNYRDNYQAFCK
WLYDAKRRQDSLESMKFGDSNTVMRFLNEQKNLHSEISGKRDKSEEVQKI
AELCANSIKDYELQLASYTSGLETLLNIPIKRTMIQSPSGVILQEAADVH
ARYIELLTRSGDYYRFLSEMLKSLEDLKLKNTKIEVLEEELRLARDANSE
NCNKNKFLDQNLQKYQAECSQFKAKLASLEELKRQAELDGKSAKQNLDKC
YGQIKELNEKITRLTYEIEDEKRRRKSVEDRFDQQKNDYDQLQKARQCEK
ENLGWQKLESEKAIKEKEYEIERLRVLLQEEGTRKREYENELAKVRNHYN
EEMSNLRNKYETEINITKTTIKEISMQKEDDSKNLRNQLDRLSRENRDLK
DEIVRLNDSILQATEQRRRAEENALQQKACGSEIMQKKQHLEIELKQVMQ
QRSEDNARHKQSLEEAAKTIQDKNKEIERLKAEFQEEAKRRWEYENELSK
VRNNYDEEIISLKNQFETEINITKTTIHQLTMQKEEDTSGYRAQIDNLTR
ENRSLSEEIKRLKNTLTQTTENLRRVEEDIQQQKATGSEVSQRKQQLEVE
LRQVTQMRTEESVRYKQSLDDAAKTIQDKNKEIERLKQLIDKETNDRKCL
EDENARLQRVQYDLQKANSSATETINKLKVQEQELTRLRIDYERVSQERT
VKDQDITRFQNSLKELQLQKQKVEEELNRLKRTASEDSCKRKKLEEELEG
MRRSLKEQAIKITNLTQQLEQASIVKKRSEDDLRQQRDVLDGHLREKQRT
QEELRRLSSEVEALRRQLLQEQESVKQAHLRNEHFQKAIEDKSRSLNESK
IEIERLQSLTENLTKEHLMLEEELRNLRLEYDDLRRGRSEADSDKNATIL
ELRSQLQISNNRTLELQGLINDLQRERENLRQEIEKFQKQALEASNRIQE
SKNQCTQVVQERESLLVKIKVLEQDKARLQRLEDELNRAKSTLEAETRVK
QRLECEKQQIQNDLNQWKTQYSRKEEAIRKIESEREKSEREKNSLRSEIE
RLQAEIKRIEERCRRKLEDSTRETQSQLETERSRYQREIDKLRQRPYGSH
RETQTECEWTVDTSKLVFDGLRKKVTAMQLYECQLIDKTTLDKLLKGKKS
VEEVASEIQPFLRGAGSIAGASASPKEKYSLVEAKRKKLISPESTVMLLE
AQAATGGIIDPHRNEKLTVDSAIARDLIDFDDRQQIYAAEKAITGFDDPF
SGKTVSVSEAIKKNLIDRETGMRLLEAQIASGGVVDPVNSVFLPKDVALA
RGLIDRDLYRSLNDPRDSQKNFVDPVTKKKVSYVQLKERCRIEPHTGLLL
LSVQKRSMSFQGIRQPVTVTELVDSGILRPSTVNELESGQISYDEVGERI
KDFLQGSSCIAGIYNETTKQKLGIYEAMKIGLVRPGTALELLEAQAATGF
IVDPVSNLRLPVEEAYKRGLVGIEFKEKLLSAERAVTGYNDPETGNIISL
FQAMNKELIEKGHGIRLLEAQIATGGIIDPKESHRLPVDIAYKRGYFNEE
LSEILSDPSDDTKGFFDPNTEENLTYLQLKERCIKDEETGLCLLPLKEKK
KQVQTSQKNTLRKRRVVIVDPETNKEMSVQEAYKKGLIDYETFKELCEQE
CEWEEITITGSDGSTRVVLVDRKTGSQYDIQDAIDKGLVDRKFFDQYRSG
SLSLTQFADMISLKNGVGTSSSMGSGVSDDVFSSSRHESVSKISTISSVR
NLTIRSSSFSDTLEESSPIAAIFDTENLEKISITEGIERGIVDSITGQRL
LEAQACTGGIIHPTTGQKLSLQDAVSQGVIDQDMATRLKPAQKAFIGFEG
VKGKKKMSAAEAVKEKWLPYEAGQRFLEFQYLTGGLVDPEVHGRISTEEA
IRKGFIDGRAAQRLQDTSSYAKILTCPKTKLKISYKDAINRSMVEDITGL
RLLEAASVSSKGLPSPYNMSSAPGSRSGSRSGSRSGSRSGSRSGSRRGSF
DATGNSSYSYSYSFSSSSIGH

Struktura

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Desmoplakin javlja se u dvije dominantne izoforme; prvi, poznat kao "DPII", ima molekulsku masu 260,0 kDa (2.272 aminokiseline), a drugi, poznat kao "DPI", ima molekulsku težinu 332,0 kDa (2.871 aminokiselina).[9][10] Ove izoforme su identične, osim za kraći domen štapića u DPII. DPI je dominantna izoforma eksprimirana u srčanom mišiću.[11] Gen DSP nalazi se na hromosomu 6, pozicija p24.3, a sadrži 24 egzona i obuhvata približno 45 kDa genomske DNK.[12] Dezmoplakin je veliki protein dezmosomnog plaka, homodimer koji se izlučuje i dobija konformaciju u obliku tikvice.[12] N-terminalni globulasti domen glave dezmoplakina je sastavljen iz serije alfa-heliksnih snopova, a potreban je i za lokalizaciju u dezmosomu i za interakciju s N-terminalnom regijom plakofilina 1 i plakoglobina, kao i dezmokolin i dezmoglein.[13] Ovo je dalje potpodijeljeno u regiju koja se naziva "Plakinov domen", sačinjen od šest spektara ponavljanja domena odvojenih SH3-domena.[14] Kristalna struktura dijela plakinskog domena je riješena,[15] dok je cijeli domen plakina razjašnjena pomoću rasipanja rendgenskih zraka pod malim uglom koje je otkrilo nelinearnu strukturu, neočekivani rezultat s obzirom na ponavljanje spektra, primijećen je u linearnim orijentacijama.[16] C-terminalna regija dezmoplakina sastoji se od tri domena ponavljanja plakina, zvana A, B i C, koji su bitni za usklađivanje i vezivanje intermedijarnog vlakna.[13][17][18] Na najdistalnijem dijelu C-kraja dezmoplakina nalazi se regija bogata glicin om-serinom-argininom; pokazano je da serinska fosforilacija ovog domena može modificirati dezmoplakinski intermedijarni filament interakcijom protein-protrin.[19] U srednjem dijelu dezmoplakina, upredena zavojnica domena štapa odgovorna je za homodimerizaciju.[20]

Funkcija

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Dezmosomi su međućelijski spojevi koji čvrsto povezuju susjedne ćelije. Dezmoplakin je obavezna komponenta funkcionalnih dezmosoma koji učvršćuje posredne niti za dezmosomske plakove. U kardiomiocit ima, dezmoplakin formira dezmosomne plakove s intermedijarnim filamentom dezmina, dok se u endotelnim ćelijama regrutiraju intermedijarni filamenti s citokeratinskog tipa, a vimentin u tipovima arahnoidnih i folikulnih dendritskih ćelija.[20][21] Oba tipa intermedijarnih vlakana vežu se lateralno za dezmoplakin i formiraju plak.[22] U srčanom mišiću, dezmoplakin je na dezmosomima u interkalarnim diskovima. DPI izoforma dezmoplakina je visoko eksprimirana i smatra se da ima ulogu u sastavljanju i stabilizaciji dezmosoma; njegova uloga je kritična, jer nokaut-miševi na dezmoplakinu imaju letalnost embriona.[23] Kod miševa s prekomjernom ekspresijom C-kraja mutiranog dezmoplakina, u srčanom mišiću, poremećeno je negovo vezivanje za dezmin, a srca pokazuju abnormalno formiranje i strukturu interkalaranog diska.[24] Mnogo je naučeno o funkciji dezmoplakina iz mutacija u pacijenata s amiogenom kardiomiopatijom desne komore, gdje mutacije u specifičnim veznim domenama mijenjaju vezivanje dezmoplakina za plakoglobin ili dezmin i rezultiraju ćelijskom smrću i disfunkcijom.[25]

Klinički značaj

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Mutacije u ovom genu uzrok su nekoliko kardiomiopatija, uključujući dilatacijsku kardiomiopatiju [26][27] aritmogenu kardiomiopatiju desne komore.[16][24][28][29][30][31] Mutacije u DSP-u su također povezane sa prugastom dlanskostopalnom keratodermijom.[26][30][32][33][34] Carvajallov sindrom posljedica je autosomno recesivne mutacije pomaka okvira (7901delG) u DSP-u, koja rezultira kombinacijom gore navedenih stanja, uključujući dilatiranu kardiomiopatiju, keratodermiju i vunastu kosu.[27] Pacijenti s Carvajalovim sindromom često pate od zatajenja srca u tinejdžerskim godinama. Zabilježen je slučaj složene heterozigotnosti za dvije nonsens mutacije "DSP" koje su rezultirale smrtonosnom akantolitskoma epidermolysis bullosa.[35][36] Autoantitijela na DSP su znak autoimunske bolesti paraneoplazijski pemfigus.[37][38] Smanjena ekspresija dezmoplakina pronađena je kod pacijenata s orofaringeusnim karcinomom i rakom dojke, što može promijeniti svojstva adhezije ćelija i umnožiti metastaze.[39][40]

Interakcije

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Pokazalo se da dezmoplakin stupa u interakcije s:

Također pogledajte

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Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000096696 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000054889 - Ensembl, maj 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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  10. ^ "Protein sequence of human desmoplakin (Uniprot ID: P15924-2)". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Arhivirano s originala, 27. 6. 2015. Pristupljeno 26. 6. 2015.
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