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DSP (gen)

S Wikipedije, slobodne enciklopedije
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

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.

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.
  5. ^ Arnemann J, Spurr NK, Wheeler GN, Parker AE, Buxton RS (oktobar 1991). "Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP)". Genomics. 10 (3): 640–5. doi:10.1016/0888-7543(91)90446-L. PMID 1889810.
  6. ^ "Entrez Gene: DSP desmoplakin".
  7. ^ Bornslaeger EA, Corcoran CM, Stappenbeck TS, Green KJ (august 1996). "Breaking the connection: displacement of the desmosomal plaque protein desmoplakin from cell-cell interfaces disrupts anchorage of intermediate filament bundles and alters intercellular junction assembly". J. Cell Biol. 134 (4): 985–1001. doi:10.1083/jcb.134.4.985. PMC 2120955. PMID 8769422.
  8. ^ "UniProt, P15924" (jezik: engleski). Pristupljeno 2. 10. 2021.
  9. ^ "Protein sequence of human desmoplakin (Uniprot ID: P15924)". Cardiac Organellar Protein Atlas Knowledgabase (COPaKB). Arhivirano s originala, 27. 6. 2015. Pristupljeno 26. 6. 2015.
  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.
  11. ^ Al-Jassar C, Bikker H, Overduin M, Chidgey M (Nov 2013). "Mechanistic basis of desmosome-targeted diseases". Journal of Molecular Biology. 425 (21): 4006–22. doi:10.1016/j.jmb.2013.07.035. PMC 3807649. PMID 23911551.
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  18. ^ Stappenbeck TS, Bornslaeger EA, Corcoran CM, Luu HH, Virata ML, Green KJ (Nov 1993). "Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks". The Journal of Cell Biology. 123 (3): 691–705. doi:10.1083/jcb.123.3.691. PMC 2200123. PMID 7693716.
  19. ^ Stappenbeck TS, Lamb JA, Corcoran CM, Green KJ (Nov 1994). "Phosphorylation of the desmoplakin COOH terminus negatively regulates its interaction with keratin intermediate filament networks". The Journal of Biological Chemistry. 269 (47): 29351–4. doi:10.1016/S0021-9258(18)43881-1. PMID 7525582.
  20. ^ a b Garrod D, Chidgey M (Mar 2008). "Desmosome structure, composition and function". Biochimica et Biophysica Acta (BBA) - Biomembranes. 1778 (3): 572–87. doi:10.1016/j.bbamem.2007.07.014. PMID 17854763.
  21. ^ Kartenbeck J, Schwechheimer K, Moll R, Franke WW (Mar 1984). "Attachment of vimentin filaments to desmosomal plaques in human meningiomal cells and arachnoidal tissue". The Journal of Cell Biology. 98 (3): 1072–81. doi:10.1083/jcb.98.3.1072. PMC 2113124. PMID 6365927.
  22. ^ Kartenbeck J, Franke WW, Moser JG, Stoffels U (1983). "Specific attachment of desmin filaments to desmosomal plaques in cardiac myocytes". The EMBO Journal. 2 (5): 735–42. doi:10.1002/j.1460-2075.1983.tb01493.x. PMC 555178. PMID 6416832.
  23. ^ Gallicano GI, Kouklis P, Bauer C, Yin M, Vasioukhin V, Degenstein L, Fuchs E (Dec 1998). "Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage". The Journal of Cell Biology. 143 (7): 2009–22. doi:10.1083/jcb.143.7.2009. PMC 2175222. PMID 9864371.
  24. ^ a b Yang Z, Bowles NE, Scherer SE, Taylor MD, Kearney DL, Ge S, Nadvoretskiy VV, DeFreitas G, Carabello B, Brandon LI, Godsel LM, Green KJ, Saffitz JE, Li H, Danieli GA, Calkins H, Marcus F, Towbin JA (Sep 2006). "Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy". Circulation Research. 99 (6): 646–55. doi:10.1161/01.RES.0000241482.19382.c6. PMID 16917092.
  25. ^ Awad MM, Calkins H, Judge DP (maj 2008). "Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy". Nature Clinical Practice Cardiovascular Medicine. 5 (5): 258–67. doi:10.1038/ncpcardio1182. PMC 2822988. PMID 18382419.
  26. ^ a b Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP (Nov 2000). "Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma". Human Molecular Genetics. 9 (18): 2761–6. doi:10.1093/hmg/9.18.2761. PMID 11063735.
  27. ^ a b Carvajal-Huerta L (Sep 1998). "Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy". Journal of the American Academy of Dermatology. 39 (3): 418–21. doi:10.1016/s0190-9622(98)70317-2. PMID 9738775.
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  29. ^ Alcalai R, Metzger S, Rosenheck S, Meiner V, Chajek-Shaul T (Jul 2003). "A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair". Journal of the American College of Cardiology. 42 (2): 319–27. doi:10.1016/s0735-1097(03)00628-4. PMID 12875771.
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  31. ^ van der Zwaag PA, Jongbloed JD, van den Berg MP, van der Smagt JJ, Jongbloed R, Bikker H, Hofstra RM, van Tintelen JP (Sep 2009). "A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy". Human Mutation. 30 (9): 1278–83. doi:10.1002/humu.21064. PMID 19569224. S2CID 7138963.
  32. ^ Armstrong DK, McKenna KE, Purkis PE, Green KJ, Eady RA, Leigh IM, Hughes AE (Jan 1999). "Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma". Human Molecular Genetics. 8 (1): 143–8. doi:10.1093/hmg/8.1.143. PMID 9887343.
  33. ^ Whittock NV, Ashton GH, Dopping-Hepenstal PJ, Gratian MJ, Keane FM, Eady RA, McGrath JA (Dec 1999). "Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency". The Journal of Investigative Dermatology. 113 (6): 940–6. doi:10.1046/j.1523-1747.1999.00783.x. PMID 10594734.
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