UniProtKB - P15924 (DESP_HUMAN)
Desmoplakin
DSP
Functioni
Major 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.
GO - Molecular functioni
- cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication Source: BHF-UCL
- protein kinase C binding Source: BHF-UCL
- RNA binding Source: UniProtKB
- scaffold protein binding Source: BHF-UCL
- structural constituent of cytoskeleton Source: ProtInc
- structural molecule activity Source: GO_Central
GO - Biological processi
- adherens junction organization Source: Ensembl
- bundle of His cell-Purkinje myocyte adhesion involved in cell communication Source: BHF-UCL
- cell-cell adhesion Source: GO_Central
- desmosome organization Source: BHF-UCL
- epidermis development Source: ProtInc
- epithelial cell-cell adhesion Source: MGI
- intermediate filament cytoskeleton organization Source: GO_Central
- intermediate filament organization Source: BHF-UCL
- keratinocyte differentiation Source: UniProtKB
- peptide cross-linking Source: UniProtKB
- protein localization to cell-cell junction Source: BHF-UCL
- regulation of heart rate by cardiac conduction Source: BHF-UCL
- regulation of ventricular cardiac muscle cell action potential Source: BHF-UCL
- skin development Source: GO_Central
- ventricular compact myocardium morphogenesis Source: BHF-UCL
- wound healing Source: GO_Central
Enzyme and pathway databases
PathwayCommonsi | P15924 |
Reactomei | R-HSA-351906, Apoptotic cleavage of cell adhesion proteins R-HSA-6798695, Neutrophil degranulation R-HSA-6805567, Keratinization R-HSA-6809371, Formation of the cornified envelope R-HSA-9696264, RND3 GTPase cycle R-HSA-9696273, RND1 GTPase cycle |
SignaLinki | P15924 |
SIGNORi | P15924 |
Names & Taxonomyi
Protein namesi | Recommended name: DesmoplakinShort name: DP Alternative name(s): 250/210 kDa paraneoplastic pemphigus antigen |
Gene namesi | Name:DSP |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3052, DSP |
MIMi | 125647, gene |
neXtProti | NX_P15924 |
VEuPathDBi | HostDB:ENSG00000096696 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity
Cytoskeleton
- cytoskeleton 1 Publication
Other locations
- desmosome 1 Publication
Note: Innermost portion of the desmosomal plaque. Colocalizes with epidermal KRT5-KRT14 and simple KRT8-KRT18 keratins and VIM intermediate filaments network (PubMed:12802069). Localizes at the intercalated disk in cardiomyocytes (By similarity).By similarity1 Publication
Cytoskeleton
- intermediate filament Source: Ensembl
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Nucleus
- nucleus Source: UniProtKB
Plasma Membrane
- basolateral plasma membrane Source: Ensembl
- cornified envelope Source: UniProtKB
- plasma membrane Source: UniProtKB
Other locations
- cytoplasm Source: GO_Central
- desmosome Source: UniProtKB-SubCell
- fascia adherens Source: Ensembl
- ficolin-1-rich granule membrane Source: Reactome
- intercalated disc Source: BHF-UCL
- membrane Source: GO_Central
Keywords - Cellular componenti
Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, MembranePathology & Biotechi
Involvement in diseasei
Keratoderma, palmoplantar, striate 2 (SPPK2)1 Publication
Cardiomyopathy, dilated, with woolly hair and keratoderma (DCWHK)1 Publication
Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015402 | 299 | S → R in ARVD8; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs121912992EnsemblClinVar. | 1 | |
Natural variantiVAR_065693 | 445 | I → V in ARVD8. Corresponds to variant dbSNP:rs934142779Ensembl. | 1 | |
Natural variantiVAR_023814 | 1255 | R → K in ARVD8. 2 PublicationsCorresponds to variant dbSNP:rs777407386EnsemblClinVar. | 1 | |
Natural variantiVAR_023816 | 1775 | R → I in ARVD8; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs34738426EnsemblClinVar. | 1 |
Skin fragility-woolly hair syndrome (SFWHS)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015569 | 287 | N → K in SFWHS. 1 PublicationCorresponds to variant dbSNP:rs121912993EnsemblClinVar. | 1 | |
Natural variantiVAR_015570 | 2366 | R → C in SFWHS. 1 PublicationCorresponds to variant dbSNP:rs28931610EnsemblClinVar. | 1 |
Epidermolysis bullosa, lethal acantholytic (EBLA)
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072432 | 564 | T → I in DCWHKTA. 1 PublicationCorresponds to variant dbSNP:rs606231295EnsemblClinVar. | 1 | |
Natural variantiVAR_072433 | 597 | S → L in DCWHKTA. 1 PublicationCorresponds to variant dbSNP:rs606231294EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 2849 | S → G: Increases association with KRT5-KRT14, KRT8-KRT18 or VIM intermediate filaments. 1 Publication | 1 |
Keywords - Diseasei
Cardiomyopathy, Disease variant, Epidermolysis bullosa, Palmoplantar keratodermaOrganism-specific databases
DisGeNETi | 1832 |
GeneReviewsi | DSP |
MalaCardsi | DSP |
MIMi | 605676, phenotype 607450, phenotype 607655, phenotype 609638, phenotype 612908, phenotype 615821, phenotype |
OpenTargetsi | ENSG00000096696 |
Orphaneti | 65282, Carvajal syndrome 476096, Erythrokeratodermia-cardiomyopathy syndrome 293899, Familial isolated arrhythmogenic ventricular dysplasia, biventricular form 293888, Familial isolated arrhythmogenic ventricular dysplasia, left dominant form 293910, Familial isolated arrhythmogenic ventricular dysplasia, right dominant form 154, Familial isolated dilated cardiomyopathy 2032, Idiopathic pulmonary fibrosis 158687, Lethal acantholytic erosive disorder 369992, Severe dermatitis-multiple allergies-metabolic wasting syndrome 293165, Skin fragility-woolly hair-palmoplantar keratoderma syndrome 50942, Striate palmoplantar keratoderma |
PharmGKBi | PA27505 |
Miscellaneous databases
Pharosi | P15924, Tbio |
Chemistry databases
DrugBanki | DB11638, Artenimol DB01593, Zinc DB14487, Zinc acetate |
Genetic variation databases
BioMutai | DSP |
DMDMi | 115502381 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000078144 | 1 – 2871 | DesmoplakinAdd BLAST | 2871 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 22 | PhosphoserineCombined sources | 1 | |
Modified residuei | 53 | PhosphoserineCombined sources | 1 | |
Modified residuei | 56 | PhosphotyrosineBy similarity | 1 | |
Modified residuei | 61 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 165 | PhosphoserineCombined sources | 1 | |
Modified residuei | 166 | PhosphoserineCombined sources | 1 | |
Modified residuei | 176 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1658 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1708 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2024 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2207 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2209 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2225 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2810 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2815 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2817 | PhosphotyrosineCombined sources | 1 | |
Modified residuei | 2820 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2821 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2825 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2826 | Omega-N-methylarginineBy similarity | 1 | |
Modified residuei | 2847 | Omega-N-methylarginineBy similarity | 1 | |
Modified residuei | 2849 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2853 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 2868 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Methylation, PhosphoproteinProteomic databases
CPTACi | CPTAC-498 CPTAC-499 |
EPDi | P15924 |
jPOSTi | P15924 |
MassIVEi | P15924 |
MaxQBi | P15924 |
PaxDbi | P15924 |
PeptideAtlasi | P15924 |
PRIDEi | P15924 |
ProteomicsDBi | 53244 [P15924-1] 53245 [P15924-2] |
PTM databases
CarbonylDBi | P15924 |
GlyGeni | P15924, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | P15924 |
MetOSitei | P15924 |
PhosphoSitePlusi | P15924 |
SwissPalmi | P15924 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000096696, Expressed in zone of skin and 203 other tissues |
Genevisiblei | P15924, HS |
Organism-specific databases
HPAi | ENSG00000096696, Group enriched (esophagus, skin, vagina) |
Interactioni
Subunit structurei
Homodimer.
Interacts with COL17A1 (via cytoplasmic region). Associates (via C-terminal) with KRT5-KRT14 (via rod region), KRT8-KRT18 and VIM intermediate filaments.
Interacts with DSC2.
Interacts with PKP2.
Interacts weakly with TMEM65 (By similarity).
By similarity3 PublicationsBinary interactionsi
P15924
With | #Exp. | IntAct |
---|---|---|
DSG1 [Q02413] | 2 | EBI-355041,EBI-1045757 |
MAPRE1 [Q15691] | 7 | EBI-355041,EBI-1004115 |
PKP1 - isoform 1 [Q13835-2] | 2 | EBI-355041,EBI-9087684 |
GO - Molecular functioni
- cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication Source: BHF-UCL
- protein kinase C binding Source: BHF-UCL
- scaffold protein binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 108166, 231 interactors |
DIPi | DIP-109N |
IntActi | P15924, 109 interactors |
MINTi | P15924 |
STRINGi | 9606.ENSP00000369129 |
Miscellaneous databases
RNActi | P15924, protein |
Structurei
Secondary structure
3D structure databases
SASBDBi | P15924 |
SMRi | P15924 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P15924 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 178 – 271 | Spectrin 1Add BLAST | 94 | |
Repeati | 272 – 375 | Spectrin 2Add BLAST | 104 | |
Repeati | 376 – 446 | Spectrin 3aAdd BLAST | 71 | |
Domaini | 458 – 515 | SH3PROSITE-ProRule annotationAdd BLAST | 58 | |
Repeati | 516 – 545 | Spectrin 3bAdd BLAST | 30 | |
Repeati | 546 – 627 | Spectrin 4Add BLAST | 82 | |
Repeati | 654 – 769 | Spectrin 5Add BLAST | 116 | |
Repeati | 770 – 883 | Spectrin 6Add BLAST | 114 | |
Repeati | 2009 – 2045 | Plectin 1Add BLAST | 37 | |
Repeati | 2046 – 2083 | Plectin 2Add BLAST | 38 | |
Repeati | 2084 – 2121 | Plectin 3Add BLAST | 38 | |
Repeati | 2122 – 2159 | Plectin 4Add BLAST | 38 | |
Repeati | 2163 – 2197 | Plectin 5Add BLAST | 35 | |
Repeati | 2198 – 2233 | Plectin 6Add BLAST | 36 | |
Repeati | 2251 – 2288 | Plectin 7Add BLAST | 38 | |
Repeati | 2289 – 2326 | Plectin 8Add BLAST | 38 | |
Repeati | 2327 – 2364 | Plectin 9Add BLAST | 38 | |
Repeati | 2365 – 2402 | Plectin 10Add BLAST | 38 | |
Repeati | 2406 – 2440 | Plectin 11Add BLAST | 35 | |
Repeati | 2456 – 2493 | Plectin 12Add BLAST | 38 | |
Repeati | 2507 – 2544 | Plectin 13Add BLAST | 38 | |
Repeati | 2610 – 2647 | Plectin 14Add BLAST | 38 | |
Repeati | 2648 – 2685 | Plectin 15Add BLAST | 38 | |
Repeati | 2724 – 2761 | Plectin 16Add BLAST | 38 | |
Repeati | 2762 – 2799 | Plectin 17Add BLAST | 38 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 1056 | Globular 1Add BLAST | 1056 | |
Regioni | 1 – 584 | Interaction with plakophilin 1 and junction plakoglobinAdd BLAST | 584 | |
Regioni | 1057 – 1945 | Central fibrous rod domainAdd BLAST | 889 | |
Regioni | 1946 – 2871 | Globular 2Add BLAST | 926 | |
Regioni | 1960 – 2208 | 4.5 X 38 AA tandem repeats (Domain A)Add BLAST | 249 | |
Regioni | 2244 – 2446 | 4.5 X 38 AA tandem repeats (Domain B)Add BLAST | 203 | |
Regioni | 2609 – 2822 | 4.5 X 38 AA tandem repeats (Domain C)Add BLAST | 214 | |
Regioni | 2810 – 2871 | DisorderedSequence analysisAdd BLAST | 62 | |
Regioni | 2824 – 2847 | 6 X 4 AA tandem repeats of G-S-R-[SR]Add BLAST | 24 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 1018 – 1945 | Sequence analysisAdd BLAST | 928 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 2811 – 2871 | Polar residuesSequence analysisAdd BLAST | 61 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Coiled coil, Repeat, SH3 domainPhylogenomic databases
eggNOGi | KOG0516, Eukaryota |
GeneTreei | ENSGT00940000154843 |
HOGENOMi | CLU_000679_1_0_1 |
InParanoidi | P15924 |
OMAi | SLGWQKM |
PhylomeDBi | P15924 |
TreeFami | TF106435 |
Family and domain databases
Gene3Di | 3.90.1290.10, 3 hits |
InterProi | View protein in InterPro IPR028462, Desmoplakin IPR041615, Desmoplakin_SH3 IPR041573, Desmoplakin_Spectrin-like IPR043197, Plakin IPR035915, Plakin_repeat_sf IPR001101, Plectin_repeat IPR001452, SH3_domain IPR018159, Spectrin/alpha-actinin |
PANTHERi | PTHR23169, PTHR23169, 1 hit PTHR23169:SF26, PTHR23169:SF26, 1 hit |
Pfami | View protein in Pfam PF00681, Plectin, 8 hits PF17902, SH3_10, 1 hit PF18373, Spectrin_like, 1 hit |
SMARTi | View protein in SMART SM00250, PLEC, 18 hits SM00150, SPEC, 3 hits |
SUPFAMi | SSF75399, SSF75399, 4 hits |
PROSITEi | View protein in PROSITE PS50002, SH3, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSCNGGSHPR INTLGRMIRA ESGPDLRYEV TSGGGGTSRM YYSRRGVITD
60 70 80 90 100
QNSDGYCQTG TMSRHQNQNT IQELLQNCSD CLMRAELIVQ PELKYGDGIQ
110 120 130 140 150
LTRSRELDEC FAQANDQMEI LDSLIREMRQ MGQPCDAYQK RLLQLQEQMR
160 170 180 190 200
ALYKAISVPR VRRASSKGGG GYTCQSGSGW DEFTKHVTSE CLGWMRQQRA
210 220 230 240 250
EMDMVAWGVD LASVEQHINS HRGIHNSIGD YRWQLDKIKA DLREKSAIYQ
260 270 280 290 300
LEEEYENLLK ASFERMDHLR QLQNIIQATS REIMWINDCE EEELLYDWSD
310 320 330 340 350
KNTNIAQKQE AFSIRMSQLE VKEKELNKLK QESDQLVLNQ HPASDKIEAY
360 370 380 390 400
MDTLQTQWSW ILQITKCIDV HLKENAAYFQ FFEEAQSTEA YLKGLQDSIR
410 420 430 440 450
KKYPCDKNMP LQHLLEQIKE LEKEREKILE YKRQVQNLVN KSKKIVQLKP
460 470 480 490 500
RNPDYRSNKP IILRALCDYK QDQKIVHKGD ECILKDNNER SKWYVTGPGG
510 520 530 540 550
VDMLVPSVGL IIPPPNPLAV DLSCKIEQYY EAILALWNQL YINMKSLVSW
560 570 580 590 600
HYCMIDIEKI RAMTIAKLKT MRQEDYMKTI ADLELHYQEF IRNSQGSEMF
610 620 630 640 650
GDDDKRKIQS QFTDAQKHYQ TLVIQLPGYP QHQTVTTTEI THHGTCQDVN
660 670 680 690 700
HNKVIETNRE NDKQETWMLM ELQKIRRQIE HCEGRMTLKN LPLADQGSSH
710 720 730 740 750
HITVKINELK SVQNDSQAIA EVLNQLKDML ANFRGSEKYC YLQNEVFGLF
760 770 780 790 800
QKLENINGVT DGYLNSLCTV RALLQAILQT EDMLKVYEAR LTEEETVCLD
810 820 830 840 850
LDKVEAYRCG LKKIKNDLNL KKSLLATMKT ELQKAQQIHS QTSQQYPLYD
860 870 880 890 900
LDLGKFGEKV TQLTDRWQRI DKQIDFRLWD LEKQIKQLRN YRDNYQAFCK
910 920 930 940 950
WLYDAKRRQD SLESMKFGDS NTVMRFLNEQ KNLHSEISGK RDKSEEVQKI
960 970 980 990 1000
AELCANSIKD YELQLASYTS GLETLLNIPI KRTMIQSPSG VILQEAADVH
1010 1020 1030 1040 1050
ARYIELLTRS GDYYRFLSEM LKSLEDLKLK NTKIEVLEEE LRLARDANSE
1060 1070 1080 1090 1100
NCNKNKFLDQ NLQKYQAECS QFKAKLASLE ELKRQAELDG KSAKQNLDKC
1110 1120 1130 1140 1150
YGQIKELNEK ITRLTYEIED EKRRRKSVED RFDQQKNDYD QLQKARQCEK
1160 1170 1180 1190 1200
ENLGWQKLES EKAIKEKEYE IERLRVLLQE EGTRKREYEN ELAKVRNHYN
1210 1220 1230 1240 1250
EEMSNLRNKY ETEINITKTT IKEISMQKED DSKNLRNQLD RLSRENRDLK
1260 1270 1280 1290 1300
DEIVRLNDSI LQATEQRRRA EENALQQKAC GSEIMQKKQH LEIELKQVMQ
1310 1320 1330 1340 1350
QRSEDNARHK QSLEEAAKTI QDKNKEIERL KAEFQEEAKR RWEYENELSK
1360 1370 1380 1390 1400
VRNNYDEEII SLKNQFETEI NITKTTIHQL TMQKEEDTSG YRAQIDNLTR
1410 1420 1430 1440 1450
ENRSLSEEIK RLKNTLTQTT ENLRRVEEDI QQQKATGSEV SQRKQQLEVE
1460 1470 1480 1490 1500
LRQVTQMRTE ESVRYKQSLD DAAKTIQDKN KEIERLKQLI DKETNDRKCL
1510 1520 1530 1540 1550
EDENARLQRV QYDLQKANSS ATETINKLKV QEQELTRLRI DYERVSQERT
1560 1570 1580 1590 1600
VKDQDITRFQ NSLKELQLQK QKVEEELNRL KRTASEDSCK RKKLEEELEG
1610 1620 1630 1640 1650
MRRSLKEQAI KITNLTQQLE QASIVKKRSE DDLRQQRDVL DGHLREKQRT
1660 1670 1680 1690 1700
QEELRRLSSE VEALRRQLLQ EQESVKQAHL RNEHFQKAIE DKSRSLNESK
1710 1720 1730 1740 1750
IEIERLQSLT ENLTKEHLML EEELRNLRLE YDDLRRGRSE ADSDKNATIL
1760 1770 1780 1790 1800
ELRSQLQISN NRTLELQGLI NDLQRERENL RQEIEKFQKQ ALEASNRIQE
1810 1820 1830 1840 1850
SKNQCTQVVQ ERESLLVKIK VLEQDKARLQ RLEDELNRAK STLEAETRVK
1860 1870 1880 1890 1900
QRLECEKQQI QNDLNQWKTQ YSRKEEAIRK IESEREKSER EKNSLRSEIE
1910 1920 1930 1940 1950
RLQAEIKRIE ERCRRKLEDS TRETQSQLET ERSRYQREID KLRQRPYGSH
1960 1970 1980 1990 2000
RETQTECEWT VDTSKLVFDG LRKKVTAMQL YECQLIDKTT LDKLLKGKKS
2010 2020 2030 2040 2050
VEEVASEIQP FLRGAGSIAG ASASPKEKYS LVEAKRKKLI SPESTVMLLE
2060 2070 2080 2090 2100
AQAATGGIID PHRNEKLTVD SAIARDLIDF DDRQQIYAAE KAITGFDDPF
2110 2120 2130 2140 2150
SGKTVSVSEA IKKNLIDRET GMRLLEAQIA SGGVVDPVNS VFLPKDVALA
2160 2170 2180 2190 2200
RGLIDRDLYR SLNDPRDSQK NFVDPVTKKK VSYVQLKERC RIEPHTGLLL
2210 2220 2230 2240 2250
LSVQKRSMSF QGIRQPVTVT ELVDSGILRP STVNELESGQ ISYDEVGERI
2260 2270 2280 2290 2300
KDFLQGSSCI AGIYNETTKQ KLGIYEAMKI GLVRPGTALE LLEAQAATGF
2310 2320 2330 2340 2350
IVDPVSNLRL PVEEAYKRGL VGIEFKEKLL SAERAVTGYN DPETGNIISL
2360 2370 2380 2390 2400
FQAMNKELIE KGHGIRLLEA QIATGGIIDP KESHRLPVDI AYKRGYFNEE
2410 2420 2430 2440 2450
LSEILSDPSD DTKGFFDPNT EENLTYLQLK ERCIKDEETG LCLLPLKEKK
2460 2470 2480 2490 2500
KQVQTSQKNT LRKRRVVIVD PETNKEMSVQ EAYKKGLIDY ETFKELCEQE
2510 2520 2530 2540 2550
CEWEEITITG SDGSTRVVLV DRKTGSQYDI QDAIDKGLVD RKFFDQYRSG
2560 2570 2580 2590 2600
SLSLTQFADM ISLKNGVGTS SSMGSGVSDD VFSSSRHESV SKISTISSVR
2610 2620 2630 2640 2650
NLTIRSSSFS DTLEESSPIA AIFDTENLEK ISITEGIERG IVDSITGQRL
2660 2670 2680 2690 2700
LEAQACTGGI IHPTTGQKLS LQDAVSQGVI DQDMATRLKP AQKAFIGFEG
2710 2720 2730 2740 2750
VKGKKKMSAA EAVKEKWLPY EAGQRFLEFQ YLTGGLVDPE VHGRISTEEA
2760 2770 2780 2790 2800
IRKGFIDGRA AQRLQDTSSY AKILTCPKTK LKISYKDAIN RSMVEDITGL
2810 2820 2830 2840 2850
RLLEAASVSS KGLPSPYNMS SAPGSRSGSR SGSRSGSRSG SRSGSRRGSF
2860 2870
DATGNSSYSY SYSFSSSSIG H
The sequence of this isoform differs from the canonical sequence as follows:
1195-1793: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1351-1793: Missing.
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A804HL18 | A0A804HL18_HUMAN | Desmoplakin | DSP | 77 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 905 | A → R in AAA85135 (PubMed:1731325).Curated | 1 | |
Sequence conflicti | 1120 | D → R in AAA35766 (PubMed:1689290).Curated | 1 | |
Sequence conflicti | 2687 – 2688 | RL → SV in AAA85135 (PubMed:1731325).Curated | 2 | |
Sequence conflicti | 2687 – 2688 | RL → SV in AAA35766 (PubMed:1689290).Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015569 | 287 | N → K in SFWHS. 1 PublicationCorresponds to variant dbSNP:rs121912993EnsemblClinVar. | 1 | |
Natural variantiVAR_015402 | 299 | S → R in ARVD8; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs121912992EnsemblClinVar. | 1 | |
Natural variantiVAR_033862 | 305 | I → F2 PublicationsCorresponds to variant dbSNP:rs17604693EnsemblClinVar. | 1 | |
Natural variantiVAR_065693 | 445 | I → V in ARVD8. Corresponds to variant dbSNP:rs934142779Ensembl. | 1 | |
Natural variantiVAR_072432 | 564 | T → I in DCWHKTA. 1 PublicationCorresponds to variant dbSNP:rs606231295EnsemblClinVar. | 1 | |
Natural variantiVAR_072433 | 597 | S → L in DCWHKTA. 1 PublicationCorresponds to variant dbSNP:rs606231294EnsemblClinVar. | 1 | |
Natural variantiVAR_023814 | 1255 | R → K in ARVD8. 2 PublicationsCorresponds to variant dbSNP:rs777407386EnsemblClinVar. | 1 | |
Natural variantiVAR_065694 | 1505 | A → V1 PublicationCorresponds to variant dbSNP:rs375919492EnsemblClinVar. | 1 | |
Natural variantiVAR_020468 | 1512 | Y → C2 PublicationsCorresponds to variant dbSNP:rs2076299EnsemblClinVar. | 1 | |
Natural variantiVAR_065695 | 1526 | N → K2 PublicationsCorresponds to variant dbSNP:rs28763966EnsemblClinVar. | 1 | |
Natural variantiVAR_065696 | 1537 | R → C2 PublicationsCorresponds to variant dbSNP:rs28763967EnsemblClinVar. | 1 | |
Natural variantiVAR_023815 | 1738 | R → Q2 PublicationsCorresponds to variant dbSNP:rs6929069EnsemblClinVar. | 1 | |
Natural variantiVAR_023816 | 1775 | R → I in ARVD8; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs34738426EnsemblClinVar. | 1 | |
Natural variantiVAR_065697 | 1833 | E → V2 PublicationsCorresponds to variant dbSNP:rs78652302EnsemblClinVar. | 1 | |
Natural variantiVAR_015570 | 2366 | R → C in SFWHS. 1 PublicationCorresponds to variant dbSNP:rs28931610EnsemblClinVar. | 1 | |
Natural variantiVAR_018158 | 2375 | G → R in a case of recessive arrhythmogenic right ventricular cardiomyopathy with skin abnormalities and woolly hair. 1 PublicationCorresponds to variant dbSNP:rs376923069EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_005070 | 1195 – 1793 | Missing in isoform DPII. 1 PublicationAdd BLAST | 599 | |
Alternative sequenceiVSP_053769 | 1351 – 1793 | Missing in isoform DSPIa. 1 PublicationAdd BLAST | 443 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M77830 mRNA Translation: AAA85135.1 HM151899 mRNA Translation: ADI58529.1 AL031058 Genomic DNA No translation available. BC140802 mRNA Translation: AAI40803.1 J05211 mRNA Translation: AAA35766.1 AF139065 mRNA Translation: AAF19785.1 |
CCDSi | CCDS4501.1 [P15924-1] CCDS47368.1 [P15924-2] |
PIRi | A38194 |
RefSeqi | NP_001008844.1, NM_001008844.2 [P15924-2] NP_001305963.1, NM_001319034.1 [P15924-3] NP_004406.2, NM_004415.3 [P15924-1] |
Genome annotation databases
Ensembli | ENST00000379802; ENSP00000369129; ENSG00000096696 ENST00000418664; ENSP00000396591; ENSG00000096696 [P15924-2] |
GeneIDi | 1832 |
KEGGi | hsa:1832 |
MANE-Selecti | ENST00000379802.8; ENSP00000369129.3; NM_004415.4; NP_004406.2 |
UCSCi | uc003mxp.2, human [P15924-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Wikipedia Desmoplakin entry |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M77830 mRNA Translation: AAA85135.1 HM151899 mRNA Translation: ADI58529.1 AL031058 Genomic DNA No translation available. BC140802 mRNA Translation: AAI40803.1 J05211 mRNA Translation: AAA35766.1 AF139065 mRNA Translation: AAF19785.1 |
CCDSi | CCDS4501.1 [P15924-1] CCDS47368.1 [P15924-2] |
PIRi | A38194 |
RefSeqi | NP_001008844.1, NM_001008844.2 [P15924-2] NP_001305963.1, NM_001319034.1 [P15924-3] NP_004406.2, NM_004415.3 [P15924-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1LM5 | X-ray | 1.80 | A/B | 2609-2822 | [»] | |
1LM7 | X-ray | 3.00 | A/B | 2209-2456 | [»] | |
3R6N | X-ray | 2.95 | A/B | 178-627 | [»] | |
5DZZ | X-ray | 2.60 | A | 1960-2448 | [»] | |
SASBDBi | P15924 | |||||
SMRi | P15924 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108166, 231 interactors |
DIPi | DIP-109N |
IntActi | P15924, 109 interactors |
MINTi | P15924 |
STRINGi | 9606.ENSP00000369129 |
Chemistry databases
DrugBanki | DB11638, Artenimol DB01593, Zinc DB14487, Zinc acetate |
PTM databases
CarbonylDBi | P15924 |
GlyGeni | P15924, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | P15924 |
MetOSitei | P15924 |
PhosphoSitePlusi | P15924 |
SwissPalmi | P15924 |
Genetic variation databases
BioMutai | DSP |
DMDMi | 115502381 |
Proteomic databases
CPTACi | CPTAC-498 CPTAC-499 |
EPDi | P15924 |
jPOSTi | P15924 |
MassIVEi | P15924 |
MaxQBi | P15924 |
PaxDbi | P15924 |
PeptideAtlasi | P15924 |
PRIDEi | P15924 |
ProteomicsDBi | 53244 [P15924-1] 53245 [P15924-2] |
Protocols and materials databases
Antibodypediai | 24671, 323 antibodies from 39 providers |
DNASUi | 1832 |
Genome annotation databases
Ensembli | ENST00000379802; ENSP00000369129; ENSG00000096696 ENST00000418664; ENSP00000396591; ENSG00000096696 [P15924-2] |
GeneIDi | 1832 |
KEGGi | hsa:1832 |
MANE-Selecti | ENST00000379802.8; ENSP00000369129.3; NM_004415.4; NP_004406.2 |
UCSCi | uc003mxp.2, human [P15924-1] |
Organism-specific databases
CTDi | 1832 |
DisGeNETi | 1832 |
GeneCardsi | DSP |
GeneReviewsi | DSP |
HGNCi | HGNC:3052, DSP |
HPAi | ENSG00000096696, Group enriched (esophagus, skin, vagina) |
MalaCardsi | DSP |
MIMi | 125647, gene 605676, phenotype 607450, phenotype 607655, phenotype 609638, phenotype 612908, phenotype 615821, phenotype |
neXtProti | NX_P15924 |
OpenTargetsi | ENSG00000096696 |
Orphaneti | 65282, Carvajal syndrome 476096, Erythrokeratodermia-cardiomyopathy syndrome 293899, Familial isolated arrhythmogenic ventricular dysplasia, biventricular form 293888, Familial isolated arrhythmogenic ventricular dysplasia, left dominant form 293910, Familial isolated arrhythmogenic ventricular dysplasia, right dominant form 154, Familial isolated dilated cardiomyopathy 2032, Idiopathic pulmonary fibrosis 158687, Lethal acantholytic erosive disorder 369992, Severe dermatitis-multiple allergies-metabolic wasting syndrome 293165, Skin fragility-woolly hair-palmoplantar keratoderma syndrome 50942, Striate palmoplantar keratoderma |
PharmGKBi | PA27505 |
VEuPathDBi | HostDB:ENSG00000096696 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0516, Eukaryota |
GeneTreei | ENSGT00940000154843 |
HOGENOMi | CLU_000679_1_0_1 |
InParanoidi | P15924 |
OMAi | SLGWQKM |
PhylomeDBi | P15924 |
TreeFami | TF106435 |
Enzyme and pathway databases
PathwayCommonsi | P15924 |
Reactomei | R-HSA-351906, Apoptotic cleavage of cell adhesion proteins R-HSA-6798695, Neutrophil degranulation R-HSA-6805567, Keratinization R-HSA-6809371, Formation of the cornified envelope R-HSA-9696264, RND3 GTPase cycle R-HSA-9696273, RND1 GTPase cycle |
SignaLinki | P15924 |
SIGNORi | P15924 |
Miscellaneous databases
BioGRID-ORCSi | 1832, 7 hits in 1043 CRISPR screens |
ChiTaRSi | DSP, human |
EvolutionaryTracei | P15924 |
GeneWikii | Desmoplakin |
GenomeRNAii | 1832 |
Pharosi | P15924, Tbio |
PROi | PR:P15924 |
RNActi | P15924, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000096696, Expressed in zone of skin and 203 other tissues |
Genevisiblei | P15924, HS |
Family and domain databases
Gene3Di | 3.90.1290.10, 3 hits |
InterProi | View protein in InterPro IPR028462, Desmoplakin IPR041615, Desmoplakin_SH3 IPR041573, Desmoplakin_Spectrin-like IPR043197, Plakin IPR035915, Plakin_repeat_sf IPR001101, Plectin_repeat IPR001452, SH3_domain IPR018159, Spectrin/alpha-actinin |
PANTHERi | PTHR23169, PTHR23169, 1 hit PTHR23169:SF26, PTHR23169:SF26, 1 hit |
Pfami | View protein in Pfam PF00681, Plectin, 8 hits PF17902, SH3_10, 1 hit PF18373, Spectrin_like, 1 hit |
SMARTi | View protein in SMART SM00250, PLEC, 18 hits SM00150, SPEC, 3 hits |
SUPFAMi | SSF75399, SSF75399, 4 hits |
PROSITEi | View protein in PROSITE PS50002, SH3, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | DESP_HUMAN | |
Accessioni | P15924Primary (citable) accession number: P15924 Secondary accession number(s): B2RTT2 Q9UHN4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 1, 1990 |
Last sequence update: | October 3, 2006 | |
Last modified: | February 23, 2022 | |
This is version 249 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families