P15924

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession DESP_HUMAN; P15924;
Entrez ID 1832
GenBank Protein ID NM_001008844.2; NM_001319034.1; NM_004415.3;
GenBank Nucleotide ID NP_001008844.1; NP_001305963.1; NP_004406.2;
Protein Name Desmoplakin (DP) (250/210 kDa paraneoplastic pemphigus antigen)
Gene Name DSP
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionMajor high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes.
Sequence
(Fasta)
MSCNGGSHPR INTLGRMIRA ESGPDLRYEV TSGGGGTSRM YYSRRGVITD QNSDGYCQTG 60
TMSRHQNQNT IQELLQNCSD CLMRAELIVQ PELKYGDGIQ LTRSRELDEC FAQANDQMEI 120
LDSLIREMRQ MGQPCDAYQK RLLQLQEQMR ALYKAISVPR VRRASSKGGG GYTCQSGSGW 180
DEFTKHVTSE CLGWMRQQRA EMDMVAWGVD LASVEQHINS HRGIHNSIGD YRWQLDKIKA 240
DLREKSAIYQ LEEEYENLLK ASFERMDHLR QLQNIIQATS REIMWINDCE EEELLYDWSD 300
KNTNIAQKQE AFSIRMSQLE VKEKELNKLK QESDQLVLNQ HPASDKIEAY MDTLQTQWSW 360
ILQITKCIDV HLKENAAYFQ FFEEAQSTEA YLKGLQDSIR KKYPCDKNMP LQHLLEQIKE 420
LEKEREKILE YKRQVQNLVN KSKKIVQLKP RNPDYRSNKP IILRALCDYK QDQKIVHKGD 480
ECILKDNNER SKWYVTGPGG VDMLVPSVGL IIPPPNPLAV DLSCKIEQYY EAILALWNQL 540
YINMKSLVSW HYCMIDIEKI RAMTIAKLKT MRQEDYMKTI ADLELHYQEF IRNSQGSEMF 600
GDDDKRKIQS QFTDAQKHYQ TLVIQLPGYP QHQTVTTTEI THHGTCQDVN HNKVIETNRE 660
NDKQETWMLM ELQKIRRQIE HCEGRMTLKN LPLADQGSSH HITVKINELK SVQNDSQAIA 720
EVLNQLKDML ANFRGSEKYC YLQNEVFGLF QKLENINGVT DGYLNSLCTV RALLQAILQT 780
EDMLKVYEAR LTEEETVCLD LDKVEAYRCG LKKIKNDLNL KKSLLATMKT ELQKAQQIHS 840
QTSQQYPLYD LDLGKFGEKV TQLTDRWQRI DKQIDFRLWD LEKQIKQLRN YRDNYQAFCK 900
WLYDAKRRQD SLESMKFGDS NTVMRFLNEQ KNLHSEISGK RDKSEEVQKI AELCANSIKD 960
YELQLASYTS GLETLLNIPI KRTMIQSPSG VILQEAADVH ARYIELLTRS GDYYRFLSEM 1020
LKSLEDLKLK NTKIEVLEEE LRLARDANSE NCNKNKFLDQ NLQKYQAECS QFKAKLASLE 1080
ELKRQAELDG KSAKQNLDKC YGQIKELNEK ITRLTYEIED EKRRRKSVED RFDQQKNDYD 1140
QLQKARQCEK ENLGWQKLES EKAIKEKEYE IERLRVLLQE EGTRKREYEN ELAKVRNHYN 1200
EEMSNLRNKY ETEINITKTT IKEISMQKED DSKNLRNQLD RLSRENRDLK DEIVRLNDSI 1260
LQATEQRRRA EENALQQKAC GSEIMQKKQH LEIELKQVMQ QRSEDNARHK QSLEEAAKTI 1320
QDKNKEIERL KAEFQEEAKR RWEYENELSK VRNNYDEEII SLKNQFETEI NITKTTIHQL 1380
TMQKEEDTSG YRAQIDNLTR ENRSLSEEIK RLKNTLTQTT ENLRRVEEDI QQQKATGSEV 1440
SQRKQQLEVE LRQVTQMRTE ESVRYKQSLD DAAKTIQDKN KEIERLKQLI DKETNDRKCL 1500
EDENARLQRV QYDLQKANSS ATETINKLKV QEQELTRLRI DYERVSQERT VKDQDITRFQ 1560
NSLKELQLQK QKVEEELNRL KRTASEDSCK RKKLEEELEG MRRSLKEQAI KITNLTQQLE 1620
QASIVKKRSE DDLRQQRDVL DGHLREKQRT QEELRRLSSE VEALRRQLLQ EQESVKQAHL 1680
RNEHFQKAIE DKSRSLNESK IEIERLQSLT ENLTKEHLML EEELRNLRLE YDDLRRGRSE 1740
ADSDKNATIL ELRSQLQISN NRTLELQGLI NDLQRERENL RQEIEKFQKQ ALEASNRIQE 1800
SKNQCTQVVQ ERESLLVKIK VLEQDKARLQ RLEDELNRAK STLEAETRVK QRLECEKQQI 1860
QNDLNQWKTQ YSRKEEAIRK IESEREKSER EKNSLRSEIE RLQAEIKRIE ERCRRKLEDS 1920
TRETQSQLET ERSRYQREID KLRQRPYGSH RETQTECEWT VDTSKLVFDG LRKKVTAMQL 1980
YECQLIDKTT LDKLLKGKKS VEEVASEIQP FLRGAGSIAG ASASPKEKYS LVEAKRKKLI 2040
SPESTVMLLE AQAATGGIID PHRNEKLTVD SAIARDLIDF DDRQQIYAAE KAITGFDDPF 2100
SGKTVSVSEA IKKNLIDRET GMRLLEAQIA SGGVVDPVNS VFLPKDVALA RGLIDRDLYR 2160
SLNDPRDSQK NFVDPVTKKK VSYVQLKERC RIEPHTGLLL LSVQKRSMSF QGIRQPVTVT 2220
ELVDSGILRP STVNELESGQ ISYDEVGERI KDFLQGSSCI AGIYNETTKQ KLGIYEAMKI 2280
GLVRPGTALE LLEAQAATGF IVDPVSNLRL PVEEAYKRGL VGIEFKEKLL SAERAVTGYN 2340
DPETGNIISL FQAMNKELIE KGHGIRLLEA QIATGGIIDP KESHRLPVDI AYKRGYFNEE 2400
LSEILSDPSD DTKGFFDPNT EENLTYLQLK ERCIKDEETG LCLLPLKEKK KQVQTSQKNT 2460
LRKRRVVIVD PETNKEMSVQ EAYKKGLIDY ETFKELCEQE CEWEEITITG SDGSTRVVLV 2520
DRKTGSQYDI QDAIDKGLVD RKFFDQYRSG SLSLTQFADM ISLKNGVGTS SSMGSGVSDD 2580
VFSSSRHESV SKISTISSVR NLTIRSSSFS DTLEESSPIA AIFDTENLEK ISITEGIERG 2640
IVDSITGQRL LEAQACTGGI IHPTTGQKLS LQDAVSQGVI DQDMATRLKP AQKAFIGFEG 2700
VKGKKKMSAA EAVKEKWLPY EAGQRFLEFQ YLTGGLVDPE VHGRISTEEA IRKGFIDGRA 2760
AQRLQDTSSY AKILTCPKTK LKISYKDAIN RSMVEDITGL RLLEAASVSS KGLPSPYNMS 2820
SAPGSRSGSR SGSRSGSRSG SRSGSRRGSF DATGNSSYSY SYSFSSSSIG H 2872

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1Serine PhosphorylationArrhythmogenic right ventricular dysplasiaNS29912373648
[Reference]: Here, we report on a genome scan in one Italian family in which the disease appeared unlinked to any of the six different ARVD loci reported so far; we identify a mutation (S299R) in exon 7 of desmoplakin (DSP), which modifies a putative phosphorylation site in the N-terminal domain binding plakoglobin.
2Arginine MethylationCardiovascular/heart diseaseNR283425733715
[Reference]: R2834H blocked the GSK3 phosphorylation cascade and reduced DP-GSK3 interactions in cultured keratinocytes and in the hearts of transgenic R2834H DP mice.

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 10)
(view all)
MESH:C564400 ; Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
MESH:C535581 ; Cardiomyopathy dilated with Woolly hair and keratoderma
OMIM:615821 ; CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
MESH:D016757 ; Death, Sudden, Cardiac
MESH:C535493 ; Epidermolysis bullosa, lethal acantholytic
MESH:D054990 ; Idiopathic Pulmonary Fibrosis
DisGeNet (Curated)
(count: 55)
(view all)
C0000887; Acantholysis
C0002170; Alopecia
C0007193; Cardiomyopathy, Dilated
C0007222; Cardiovascular Diseases
C0018801; Heart failure
C0018802; Congestive heart failure
GWASdb
(count: 8)
(view all)
rs9392904; Bipolar disorder; bipolar disorder
rs12198780; Neuroticism; anxiety disorder|mood disorder|dementia
rs10484325; Interstitial lung disease; interstitial lung disease
rs10484326; Interstitial lung disease; interstitial lung disease
rs2076295; Interstitial lung disease; interstitial lung disease
rs1358904; Interstitial lung disease; interstitial lung disease

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 186)
(view all)
1065      LDQNLQKYQAECSQF     dbPAF
1101      KQNLDKCYGQIKELN     dbPAF
1116      EKITRLTYEIEDEKR     dbPAF
1127      DEKRRRKSVEDRFDQ     dbPAF
1139      FDQQKNDYDQLQKAR     dbPAF
1169      KAIKEKEYEIERLRV     dbPAF
Acetylation
(count: 60)
(view all)
1022      RFLSEMLKSLEDLKL     PLMD
1028      LKSLEDLKLKNTKIE     PLMD
1033      DLKLKNTKIEVLEEE     PLMD
1056      SENCNKNKFLDQNLQ     PLMD
1064      FLDQNLQKYQAECSQ     PLMD
1073      QAECSQFKAKLASLE     PLMD
Ubiquitination
(count: 49)
(view all)
1022      RFLSEMLKSLEDLKL     PLMD
1028      LKSLEDLKLKNTKIE     PLMD
1033      DLKLKNTKIEVLEEE     PLMD
1056      SENCNKNKFLDQNLQ     PLMD
1064      FLDQNLQKYQAECSQ     PLMD
1073      QAECSQFKAKLASLE     PLMD
Malonylation
(count: 5)
1593      EDSCKRKKLEEELEG     PLMD
1820      ESLLVKIKVLEQDKA     PLMD
1993      IDKTTLDKLLKGKKS     PLMD
459       NPDYRSNKPIILRAL     PLMD
931       MRFLNEQKNLHSEIS     PLMD
Methylation
(count: 2)
1802      SNRIQESKNQCTQVV     PLMD
727       AEVLNQLKDMLANFR     PLMD
Succinylation
(count: 3)
1083      LASLEELKRQAELDG     PLMD
1410      RSLSEEIKRLKNTLT     PLMD
2786      TKLKISYKDAINRSM     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource