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UniProtKB - P15924 (DESP_HUMAN)

Protein

Desmoplakin

Gene

DSP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 adhesion molecule binding Source: InterPro
  • cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication Source: BHF-UCL
  • protein binding, bridging Source: UniProtKB
  • 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: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

ReactomeiR-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
SIGNORiP15924

Names & Taxonomyi

Protein namesi
Recommended name:
Desmoplakin
Short name:
DP
Alternative name(s):
250/210 kDa paraneoplastic pemphigus antigen
Gene namesi
Name:DSP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000096696.13
HGNCiHGNC:3052 DSP
MIMi125647 gene
neXtProtiNX_P15924

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Keratoderma, palmoplantar, striate 2 (SPPK2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA dermatological disorder characterized by thickening of the skin on the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present.
See also OMIM:612908
Cardiomyopathy, dilated, with woolly hair and keratoderma (DCWHK)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy.
See also OMIM:605676
Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
See also OMIM:607450
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015402299S → R in ARVD8; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs121912992EnsemblClinVar.1
Natural variantiVAR_065693445I → V in ARVD8. Corresponds to variant dbSNP:rs934142779Ensembl.1
Natural variantiVAR_0238141255R → K in ARVD8. 2 PublicationsCorresponds to variant dbSNP:rs777407386Ensembl.1
Natural variantiVAR_0238161775R → I in ARVD8; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs34738426EnsemblClinVar.1
Skin fragility-woolly hair syndrome (SFWHS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive genodermatosis characterized by skin fragility with blistering, focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia.
See also OMIM:607655
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015569287N → K in SFWHS. 1 PublicationCorresponds to variant dbSNP:rs121912993EnsemblClinVar.1
Natural variantiVAR_0155702366R → C in SFWHS. 1 PublicationCorresponds to variant dbSNP:rs28931610EnsemblClinVar.1
Epidermolysis bullosa, lethal acantholytic (EBLA)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epidermolysis bullosa characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus.
See also OMIM:609638
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA cardiocutaneous syndrome characterized by biventricular dilated cardiomyopathy, hyperkeratosis, woolly hair, palmoplantar keratoderma, and hypo/oligodontia.
See also OMIM:615821
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072432564T → I in DCWHKTA. 1 PublicationCorresponds to variant dbSNP:rs606231295EnsemblClinVar.1
Natural variantiVAR_072433597S → L in DCWHKTA. 1 PublicationCorresponds to variant dbSNP:rs606231294EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi2849S → G: Increases association with KRT5-KRT14, KRT8-KRT18 or VIM intermediate filaments. 1 Publication1

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Epidermolysis bullosa, Palmoplantar keratoderma

Organism-specific databases

DisGeNETi1832
GeneReviewsiDSP
MalaCardsiDSP
MIMi605676 phenotype
607450 phenotype
607655 phenotype
609638 phenotype
612908 phenotype
615821 phenotype
OpenTargetsiENSG00000096696
Orphaneti293899 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
2032 Idiopathic pulmonary fibrosis
50942 Keratosis palmoplantaris striata
158687 Lethal acantholytic epidermolysis bullosa
293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome
65282 Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
PharmGKBiPA27505

Polymorphism and mutation databases

BioMutaiDSP
DMDMi115502381

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000781441 – 2871DesmoplakinAdd BLAST2871

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei22PhosphoserineCombined sources1
Modified residuei53PhosphoserineCombined sources1
Modified residuei56PhosphotyrosineBy similarity1
Modified residuei61PhosphothreonineBy similarity1
Modified residuei165PhosphoserineCombined sources1
Modified residuei166PhosphoserineCombined sources1
Modified residuei176PhosphoserineCombined sources1
Modified residuei1658PhosphoserineCombined sources1
Modified residuei1708PhosphoserineCombined sources1
Modified residuei2024PhosphoserineCombined sources1
Modified residuei2207PhosphoserineCombined sources1
Modified residuei2209PhosphoserineCombined sources1
Modified residuei2225PhosphoserineCombined sources1
Modified residuei2810PhosphoserineCombined sources1
Modified residuei2815PhosphoserineCombined sources1
Modified residuei2817PhosphotyrosineCombined sources1
Modified residuei2820PhosphoserineCombined sources1
Modified residuei2821PhosphoserineCombined sources1
Modified residuei2825PhosphoserineCombined sources1
Modified residuei2826Omega-N-methylarginineBy similarity1
Modified residuei2847Omega-N-methylarginineBy similarity1
Modified residuei2849PhosphoserineCombined sources1
Modified residuei2853PhosphothreonineCombined sources1
Modified residuei2868PhosphoserineCombined sources1

Post-translational modificationi

Ser-2849 is probably phosphorylated by a cAMP-dependent protein kinase. Phosphorylation on Ser-2849 probably affects its association with epidermal, simple cytokeratins and VIM intermediate filaments.

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiP15924
MaxQBiP15924
PaxDbiP15924
PeptideAtlasiP15924
PRIDEiP15924
ProteomicsDBi53244
53245 [P15924-2]

PTM databases

CarbonylDBiP15924
iPTMnetiP15924
PhosphoSitePlusiP15924
SwissPalmiP15924

Expressioni

Tissue specificityi

Isoform DPI is apparently an obligate constituent of all desmosomes. Isoform DPII resides predominantly in tissues and cells of stratified origin.

Gene expression databases

BgeeiENSG00000096696 Expressed in 190 organ(s), highest expression level in zone of skin
CleanExiHS_DSP
GenevisibleiP15924 HS

Organism-specific databases

HPAiCAB037324
HPA045840
HPA054950

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 Publications

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi108166, 111 interactors
DIPiDIP-109N
IntActiP15924, 60 interactors
MINTiP15924
STRINGi9606.ENSP00000369129

Structurei

Secondary structure

12871
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP15924
SMRiP15924
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP15924

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati178 – 271Spectrin 1Add BLAST94
Repeati272 – 375Spectrin 2Add BLAST104
Repeati376 – 446Spectrin 3aAdd BLAST71
Domaini458 – 515SH3PROSITE-ProRule annotationAdd BLAST58
Repeati516 – 545Spectrin 3bAdd BLAST30
Repeati546 – 627Spectrin 4Add BLAST82
Repeati654 – 769Spectrin 5Add BLAST116
Repeati770 – 883Spectrin 6Add BLAST114
Repeati2009 – 2045Plectin 1Add BLAST37
Repeati2046 – 2083Plectin 2Add BLAST38
Repeati2084 – 2121Plectin 3Add BLAST38
Repeati2122 – 2159Plectin 4Add BLAST38
Repeati2163 – 2197Plectin 5Add BLAST35
Repeati2198 – 2233Plectin 6Add BLAST36
Repeati2251 – 2288Plectin 7Add BLAST38
Repeati2289 – 2326Plectin 8Add BLAST38
Repeati2327 – 2364Plectin 9Add BLAST38
Repeati2365 – 2402Plectin 10Add BLAST38
Repeati2406 – 2440Plectin 11Add BLAST35
Repeati2456 – 2493Plectin 12Add BLAST38
Repeati2507 – 2544Plectin 13Add BLAST38
Repeati2610 – 2647Plectin 14Add BLAST38
Repeati2648 – 2685Plectin 15Add BLAST38
Repeati2724 – 2761Plectin 16Add BLAST38
Repeati2762 – 2799Plectin 17Add BLAST38

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 1056Globular 1Add BLAST1056
Regioni1 – 584Interaction with plakophilin 1 and junction plakoglobinAdd BLAST584
Regioni1057 – 1945Central fibrous rod domainAdd BLAST889
Regioni1946 – 2871Globular 2Add BLAST926
Regioni1960 – 22084.5 X 38 AA tandem repeats (Domain A)Add BLAST249
Regioni2244 – 24464.5 X 38 AA tandem repeats (Domain B)Add BLAST203
Regioni2609 – 28224.5 X 38 AA tandem repeats (Domain C)Add BLAST214
Regioni2824 – 28476 X 4 AA tandem repeats of G-S-R-[SR]Add BLAST24

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1018 – 1945Sequence analysisAdd BLAST928

Domaini

Its association with epidermal and simple keratins is dependent on the tertiary structure induced by heterodimerization of these intermediate filaments proteins and most likely involves recognition sites located in the rod domain of these keratins.
The N-terminal region is required for localization to the desmosomal plaque and interacts with the N-terminal region of plakophilin 1.
The three tandem plakin repeat regions in the C-terminus mediate binding to intermediate filaments.

Sequence similaritiesi

Belongs to the plakin or cytolinker family.Curated

Keywords - Domaini

Coiled coil, Repeat, SH3 domain

Phylogenomic databases

eggNOGiENOG410IQBR Eukaryota
ENOG4111ACS LUCA
GeneTreeiENSGT00760000119163
HOGENOMiHOG000112198
HOVERGENiHBG081434
InParanoidiP15924
KOiK10381
OMAiKRSMSFQ
OrthoDBiEOG091G003R
PhylomeDBiP15924
TreeFamiTF106435

Family and domain databases

Gene3Di3.90.1290.10, 3 hits
InterProiView protein in InterPro
IPR028462 Desmoplakin
IPR035915 Plakin_repeat_sf
IPR001101 Plectin_repeat
IPR001452 SH3_domain
IPR018159 Spectrin/alpha-actinin
PANTHERiPTHR44773 PTHR44773, 1 hit
PfamiView protein in Pfam
PF00681 Plectin, 8 hits
SMARTiView protein in SMART
SM00250 PLEC, 18 hits
SM00150 SPEC, 3 hits
SUPFAMiSSF75399 SSF75399, 5 hits
PROSITEiView protein in PROSITE
PS50002 SH3, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform DPI (identifier: P15924-1) [UniParc]FASTAAdd to basket
Also known as: DP1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:2,871
Mass (Da):331,774
Last modified:October 3, 2006 - v3
Checksum:i5770CC6B4F9F9F7B
GO
Isoform DPII (identifier: P15924-2) [UniParc]FASTAAdd to basket
Also known as: DP2

The sequence of this isoform differs from the canonical sequence as follows:
     1195-1793: Missing.

Show »
Length:2,272
Mass (Da):260,119
Checksum:i84F0CD39B48E1339
GO
Isoform DSPIa (identifier: P15924-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1351-1793: Missing.

Note: Minor isoform.
Show »
Length:2,428
Mass (Da):278,916
Checksum:iB26951DA08A0620C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti905A → R in AAA85135 (PubMed:1731325).Curated1
Sequence conflicti1120D → R in AAA35766 (PubMed:1689290).Curated1
Sequence conflicti2687 – 2688RL → SV in AAA85135 (PubMed:1731325).Curated2
Sequence conflicti2687 – 2688RL → SV in AAA35766 (PubMed:1689290).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015569287N → K in SFWHS. 1 PublicationCorresponds to variant dbSNP:rs121912993EnsemblClinVar.1
Natural variantiVAR_015402299S → R in ARVD8; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs121912992EnsemblClinVar.1
Natural variantiVAR_033862305I → F2 PublicationsCorresponds to variant dbSNP:rs17604693EnsemblClinVar.1
Natural variantiVAR_065693445I → V in ARVD8. Corresponds to variant dbSNP:rs934142779Ensembl.1
Natural variantiVAR_072432564T → I in DCWHKTA. 1 PublicationCorresponds to variant dbSNP:rs606231295EnsemblClinVar.1
Natural variantiVAR_072433597S → L in DCWHKTA. 1 PublicationCorresponds to variant dbSNP:rs606231294EnsemblClinVar.1
Natural variantiVAR_0238141255R → K in ARVD8. 2 PublicationsCorresponds to variant dbSNP:rs777407386Ensembl.1
Natural variantiVAR_0656941505A → V1 PublicationCorresponds to variant dbSNP:rs375919492EnsemblClinVar.1
Natural variantiVAR_0204681512Y → C2 PublicationsCorresponds to variant dbSNP:rs2076299EnsemblClinVar.1
Natural variantiVAR_0656951526N → K2 PublicationsCorresponds to variant dbSNP:rs28763966EnsemblClinVar.1
Natural variantiVAR_0656961537R → C2 PublicationsCorresponds to variant dbSNP:rs28763967EnsemblClinVar.1
Natural variantiVAR_0238151738R → Q2 PublicationsCorresponds to variant dbSNP:rs6929069EnsemblClinVar.1
Natural variantiVAR_0238161775R → I in ARVD8; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs34738426EnsemblClinVar.1
Natural variantiVAR_0656971833E → V2 PublicationsCorresponds to variant dbSNP:rs78652302EnsemblClinVar.1
Natural variantiVAR_0155702366R → C in SFWHS. 1 PublicationCorresponds to variant dbSNP:rs28931610EnsemblClinVar.1
Natural variantiVAR_0181582375G → R in a case of recessive arrhythmogenic right ventricular cardiomyopathy with skin abnormalities and woolly hair. 1 PublicationCorresponds to variant dbSNP:rs376923069Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0050701195 – 1793Missing in isoform DPII. 1 PublicationAdd BLAST599
Alternative sequenceiVSP_0537691351 – 1793Missing in isoform DSPIa. 1 PublicationAdd BLAST443

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
CCDSiCCDS4501.1 [P15924-1]
CCDS47368.1 [P15924-2]
PIRiA38194
RefSeqiNP_001008844.1, NM_001008844.2 [P15924-2]
NP_001305963.1, NM_001319034.1 [P15924-3]
NP_004406.2, NM_004415.3 [P15924-1]
UniGeneiHs.519873

Genome annotation databases

EnsembliENST00000379802; ENSP00000369129; ENSG00000096696 [P15924-1]
ENST00000418664; ENSP00000396591; ENSG00000096696 [P15924-2]
GeneIDi1832
KEGGihsa:1832
UCSCiuc003mxp.2 human [P15924-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS4501.1 [P15924-1]
CCDS47368.1 [P15924-2]
PIRiA38194
RefSeqiNP_001008844.1, NM_001008844.2 [P15924-2]
NP_001305963.1, NM_001319034.1 [P15924-3]
NP_004406.2, NM_004415.3 [P15924-1]
UniGeneiHs.519873

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1LM5X-ray1.80A/B2609-2822[»]
1LM7X-ray3.00A/B2209-2456[»]
3R6NX-ray2.95A/B178-627[»]
5DZZX-ray2.60A1960-2448[»]
ProteinModelPortaliP15924
SMRiP15924
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108166, 111 interactors
DIPiDIP-109N
IntActiP15924, 60 interactors
MINTiP15924
STRINGi9606.ENSP00000369129

PTM databases

CarbonylDBiP15924
iPTMnetiP15924
PhosphoSitePlusiP15924
SwissPalmiP15924

Polymorphism and mutation databases

BioMutaiDSP
DMDMi115502381

Proteomic databases

EPDiP15924
MaxQBiP15924
PaxDbiP15924
PeptideAtlasiP15924
PRIDEiP15924
ProteomicsDBi53244
53245 [P15924-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379802; ENSP00000369129; ENSG00000096696 [P15924-1]
ENST00000418664; ENSP00000396591; ENSG00000096696 [P15924-2]
GeneIDi1832
KEGGihsa:1832
UCSCiuc003mxp.2 human [P15924-1]

Organism-specific databases

CTDi1832
DisGeNETi1832
EuPathDBiHostDB:ENSG00000096696.13
GeneCardsiDSP
GeneReviewsiDSP
HGNCiHGNC:3052 DSP
HPAiCAB037324
HPA045840
HPA054950
MalaCardsiDSP
MIMi125647 gene
605676 phenotype
607450 phenotype
607655 phenotype
609638 phenotype
612908 phenotype
615821 phenotype
neXtProtiNX_P15924
OpenTargetsiENSG00000096696
Orphaneti293899 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
2032 Idiopathic pulmonary fibrosis
50942 Keratosis palmoplantaris striata
158687 Lethal acantholytic epidermolysis bullosa
293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome
65282 Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
PharmGKBiPA27505
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQBR Eukaryota
ENOG4111ACS LUCA
GeneTreeiENSGT00760000119163
HOGENOMiHOG000112198
HOVERGENiHBG081434
InParanoidiP15924
KOiK10381
OMAiKRSMSFQ
OrthoDBiEOG091G003R
PhylomeDBiP15924
TreeFamiTF106435

Enzyme and pathway databases

ReactomeiR-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
SIGNORiP15924

Miscellaneous databases

ChiTaRSiDSP human
EvolutionaryTraceiP15924
GeneWikiiDesmoplakin
GenomeRNAii1832
PROiPR:P15924
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000096696 Expressed in 190 organ(s), highest expression level in zone of skin
CleanExiHS_DSP
GenevisibleiP15924 HS

Family and domain databases

Gene3Di3.90.1290.10, 3 hits
InterProiView protein in InterPro
IPR028462 Desmoplakin
IPR035915 Plakin_repeat_sf
IPR001101 Plectin_repeat
IPR001452 SH3_domain
IPR018159 Spectrin/alpha-actinin
PANTHERiPTHR44773 PTHR44773, 1 hit
PfamiView protein in Pfam
PF00681 Plectin, 8 hits
SMARTiView protein in SMART
SM00250 PLEC, 18 hits
SM00150 SPEC, 3 hits
SUPFAMiSSF75399 SSF75399, 5 hits
PROSITEiView protein in PROSITE
PS50002 SH3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDESP_HUMAN
AccessioniPrimary (citable) accession number: P15924
Secondary accession number(s): B2RTT2
, D7RX09, O75993, Q14189, Q9UHN4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: October 3, 2006
Last modified: October 10, 2018
This is version 227 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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