• Gene id: 1832

Gene Summary

• Gene Symbol: DSP   Gene   UCSC   Ensembl
• Aliases: DCWHKTA, DP
• Gene name: desmoplakin
• Alternate names: desmoplakin, 250/210 kDa paraneoplastic pemphigus antigen,
• Gene location: 6p24.3 (7541670: 7586713)     Exons: 30     NC_000006.12
• Gene summary(Entrez): This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woo
• OMIM: 125647

Protein Summary

• Protein general information: P15924  
  • Name: Desmoplakin (DP) (250/210 kDa paraneoplastic pemphigus antigen)
  • Length: 2871  
  • Mass: 331774
  • Tissue specificity: Isoform DPI is apparently an obligate constituent of all desmosomes. Isoform DPII resides predominantly in tissues and cells of stratified origin.
• Sequence:

  MSCNGGSHPRINTLGRMIRAESGPDLRYEVTSGGGGTSRMYYSRRGVITDQNSDGYCQTGTMSRHQNQNTIQELL
  QNCSDCLMRAELIVQPELKYGDGIQLTRSRELDECFAQANDQMEILDSLIREMRQMGQPCDAYQKRLLQLQEQMR
  ALYKAISVPRVRRASSKGGGGYTCQSGSGWDEFTKHVTSECLGWMRQQRAEMDMVAWGVDLASVEQHINSHRGIH
  NSIGDYRWQLDKIKADLREKSAIYQLEEEYENLLKASFERMDHLRQLQNIIQATSREIMWINDCEEEELLYDWSD
  KNTNIAQKQEAFSIRMSQLEVKEKELNKLKQESDQLVLNQHPASDKIEAYMDTLQTQWSWILQITKCIDVHLKEN
  AAYFQFFEEAQSTEAYLKGLQDSIRKKYPCDKNMPLQHLLEQIKELEKEREKILEYKRQVQNLVNKSKKIVQLKP
  RNPDYRSNKPIILRALCDYKQDQKIVHKGDECILKDNNERSKWYVTGPGGVDMLVPSVGLIIPPPNPLAVDLSCK
  IEQYYEAILALWNQLYINMKSLVSWHYCMIDIEKIRAMTIAKLKTMRQEDYMKTIADLELHYQEFIRNSQGSEMF
  GDDDKRKIQSQFTDAQKHYQTLVIQLPGYPQHQTVTTTEITHHGTCQDVNHNKVIETNRENDKQETWMLMELQKI
  RRQIEHCEGRMTLKNLPLADQGSSHHITVKINELKSVQNDSQAIAEVLNQLKDMLANFRGSEKYCYLQNEVFGLF
  QKLENINGVTDGYLNSLCTVRALLQAILQTEDMLKVYEARLTEEETVCLDLDKVEAYRCGLKKIKNDLNLKKSLL
  ATMKTELQKAQQIHSQTSQQYPLYDLDLGKFGEKVTQLTDRWQRIDKQIDFRLWDLEKQIKQLRNYRDNYQAFCK
  WLYDAKRRQDSLESMKFGDSNTVMRFLNEQKNLHSEISGKRDKSEEVQKIAELCANSIKDYELQLASYTSGLETL
  LNIPIKRTMIQSPSGVILQEAADVHARYIELLTRSGDYYRFLSEMLKSLEDLKLKNTKIEVLEEELRLARDANSE
  NCNKNKFLDQNLQKYQAECSQFKAKLASLEELKRQAELDGKSAKQNLDKCYGQIKELNEKITRLTYEIEDEKRRR
  KSVEDRFDQQKNDYDQLQKARQCEKENLGWQKLESEKAIKEKEYEIERLRVLLQEEGTRKREYENELAKVRNHYN
  EEMSNLRNKYETEINITKTTIKEISMQKEDDSKNLRNQLDRLSRENRDLKDEIVRLNDSILQATEQRRRAEENAL
  QQKACGSEIMQKKQHLEIELKQVMQQRSEDNARHKQSLEEAAKTIQDKNKEIERLKAEFQEEAKRRWEYENELSK
  VRNNYDEEIISLKNQFETEINITKTTIHQLTMQKEEDTSGYRAQIDNLTRENRSLSEEIKRLKNTLTQTTENLRR
  VEEDIQQQKATGSEVSQRKQQLEVELRQVTQMRTEESVRYKQSLDDAAKTIQDKNKEIERLKQLIDKETNDRKCL
  EDENARLQRVQYDLQKANSSATETINKLKVQEQELTRLRIDYERVSQERTVKDQDITRFQNSLKELQLQKQKVEE
  ELNRLKRTASEDSCKRKKLEEELEGMRRSLKEQAIKITNLTQQLEQASIVKKRSEDDLRQQRDVLDGHLREKQRT
  QEELRRLSSEVEALRRQLLQEQESVKQAHLRNEHFQKAIEDKSRSLNESKIEIERLQSLTENLTKEHLMLEEELR
  NLRLEYDDLRRGRSEADSDKNATILELRSQLQISNNRTLELQGLINDLQRERENLRQEIEKFQKQALEASNRIQE
  SKNQCTQVVQERESLLVKIKVLEQDKARLQRLEDELNRAKSTLEAETRVKQRLECEKQQIQNDLNQWKTQYSRKE
  EAIRKIESEREKSEREKNSLRSEIERLQAEIKRIEERCRRKLEDSTRETQSQLETERSRYQREIDKLRQRPYGSH
  RETQTECEWTVDTSKLVFDGLRKKVTAMQLYECQLIDKTTLDKLLKGKKSVEEVASEIQPFLRGAGSIAGASASP
  KEKYSLVEAKRKKLISPESTVMLLEAQAATGGIIDPHRNEKLTVDSAIARDLIDFDDRQQIYAAEKAITGFDDPF
  SGKTVSVSEAIKKNLIDRETGMRLLEAQIASGGVVDPVNSVFLPKDVALARGLIDRDLYRSLNDPRDSQKNFVDP
  VTKKKVSYVQLKERCRIEPHTGLLLLSVQKRSMSFQGIRQPVTVTELVDSGILRPSTVNELESGQISYDEVGERI
  KDFLQGSSCIAGIYNETTKQKLGIYEAMKIGLVRPGTALELLEAQAATGFIVDPVSNLRLPVEEAYKRGLVGIEF
  KEKLLSAERAVTGYNDPETGNIISLFQAMNKELIEKGHGIRLLEAQIATGGIIDPKESHRLPVDIAYKRGYFNEE
  LSEILSDPSDDTKGFFDPNTEENLTYLQLKERCIKDEETGLCLLPLKEKKKQVQTSQKNTLRKRRVVIVDPETNK
  EMSVQEAYKKGLIDYETFKELCEQECEWEEITITGSDGSTRVVLVDRKTGSQYDIQDAIDKGLVDRKFFDQYRSG
  SLSLTQFADMISLKNGVGTSSSMGSGVSDDVFSSSRHESVSKISTISSVRNLTIRSSSFSDTLEESSPIAAIFDT
  ENLEKISITEGIERGIVDSITGQRLLEAQACTGGIIHPTTGQKLSLQDAVSQGVIDQDMATRLKPAQKAFIGFEG
  VKGKKKMSAAEAVKEKWLPYEAGQRFLEFQYLTGGLVDPEVHGRISTEEAIRKGFIDGRAAQRLQDTSSYAKILT
  CPKTKLKISYKDAINRSMVEDITGLRLLEAASVSSKGLPSPYNMSSAPGSRSGSRSGSRSGSRSGSRSGSRRGSF
  DATGNSSYSYSYSFSSSSIGH

• Structural information:
  • Protein Domains: (458..51-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR028462  IPR041615  IPR041573  IPR035915  IPR001101   IPR001452  IPR018159  
  • Prosite: PS50002
  • PDB: 1LM5 1LM7 3R6N 5DZZ
  • PDBsum: 1LM5 1LM7 3R6N 5DZZ
  • DIP: 109
  • STRING: ENSP00000369129
• Other Databases: GeneCards:  DSP  Malacards:  DSP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0005882	intermediate filament	IBA	colocalizes with
GO:0005886	plasma membrane	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0043588	skin development	IBA	biological process
GO:0005198	structural molecule activity	IBA	molecular function
GO:0014704	intercalated disc	IBA	cellular component
GO:0030054	cell junction	IBA	cellular component
GO:0042060	wound healing	IBA	biological process
GO:0045104	intermediate filament cytoskeleton organization	IBA	biological process
GO:0098609	cell-cell adhesion	IBA	biological process
GO:0014704	intercalated disc	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0045104	intermediate filament cytoskeleton organization	IEA	biological process
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0050839	cell adhesion molecule binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0008544	epidermis development	TAS	biological process
GO:0090136	epithelial cell-cell adhesion	IMP	biological process
GO:0001533	cornified envelope	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0031424	keratinization	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0101003	ficolin-1-rich granule membrane	TAS	cellular component
GO:0070268	cornification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0045109	intermediate filament organization	IEA	biological process
GO:0045104	intermediate filament cytoskeleton organization	IEA	biological process
GO:0034332	adherens junction organization	IEA	biological process
GO:0030057	desmosome	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0014704	intercalated disc	IEA	cellular component
GO:0005911	cell-cell junction	IEA	cellular component
GO:0042060	wound healing	IEA	biological process
GO:0030057	desmosome	IEA	cellular component
GO:0150105	protein localization to cell-cell junction	IEA	biological process
GO:0043588	skin development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0003223	ventricular compact myocardium morphogenesis	IEA	biological process
GO:0002934	desmosome organization	IEA	biological process
GO:0005916	fascia adherens	IEA	cellular component
GO:0005080	protein kinase C binding	IPI	molecular function
GO:0086083	cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	IC	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097110	scaffold protein binding	IPI	molecular function
GO:0014704	intercalated disc	IDA	cellular component
GO:0014704	intercalated disc	IDA	cellular component
GO:0014704	intercalated disc	IDA	cellular component
GO:0045109	intermediate filament organization	ISS	biological process
GO:0098911	regulation of ventricular cardiac muscle cell action potential	IMP	biological process
GO:0086073	bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0002934	desmosome organization	ISS	biological process
GO:0003223	ventricular compact myocardium morphogenesis	ISS	biological process
GO:0005882	intermediate filament	ISS	colocalizes with
GO:0150105	protein localization to cell-cell junction	ISS	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0030057	desmosome	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0030216	keratinocyte differentiation	IDA	biological process
GO:0018149	peptide cross-linking	IDA	biological process
GO:0001533	cornified envelope	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05412	Arrhythmogenic right ventricular cardiomyopathy

Diseases

Associated diseases	References
Arrhythmogenic right ventricular cardiomyopathy	KEGG:H00293
Epidermolysis bullosa simplex	KEGG:H00584
Striate palmoplantar keratoderma	KEGG:H00717
Skin fragility-woolly hair syndrome	KEGG:H00893
Carvajal syndrome	KEGG:H02094
Arrhythmogenic right ventricular cardiomyopathy	KEGG:H00293
Epidermolysis bullosa simplex	KEGG:H00584
Striate palmoplantar keratoderma	KEGG:H00717
Skin fragility-woolly hair syndrome	KEGG:H00893
Carvajal syndrome	KEGG:H02094
Arrhythmogenic right ventricular cardiomyopathy	PMID:12875771
hypertrophic cardiomyopathy	PMID:8944586
Cardiomyopathy	PMID:11063735
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 21412036
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881