Protein Description

Gene Symbol DSP
Entrez ID 1832
Uniprot ID P15924
Description desmoplakin
Chromosomal Location chr6: 7,541,575-7,586,717
Ontology GO ID GO Term Definition Evidence

BP

GO:0002934

desmosome organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a desmosome. A desmosome is a patch-like intercellular junction found in vertebrate tissues, consisting of parallel zones of two cell membranes, separated by an space of 25-35 nm, and having dense fibrillar plaques in the subjacent cytoplasm.

ISS

BP

GO:0003223

ventricular compact myocardium morphogenesis

The process in which the anatomical structures of the compact cardiac ventricle muscle are generated and organized.

ISS

BP

GO:0008544

epidermis development

The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species.

TAS

BP

GO:0018149

peptide cross-linking

The formation of a covalent cross-link between or within protein chains.

IDA

BP

GO:0030216

keratinocyte differentiation

The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte.

IDA

BP

GO:0034332

adherens junction organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an adherens junction. An adherens junction is a cell junction at which the cytoplasmic face of the plasma membrane is attached to actin filaments.

IEA

BP

GO:0042060

wound healing

The series of events that restore integrity to a damaged tissue, following an injury.

IEA

BP

GO:0045109

intermediate filament organization

Control of the spatial distribution of intermediate filaments; includes organizing filaments into meshworks, bundles, or other structures, as by cross-linking.

ISS

BP

GO:0071896

protein localization to adherens junction

Any process in which a protein is transported to, and/or maintained at the adherens junction.

ISS

BP

GO:0086073

bundle of His cell-Purkinje myocyte adhesion involved in cell communication

The attachment of a bundle of His cell to a Purkinje myocyte via adhesion molecules that results in the cells being juxtaposed so that they can communicate.

IMP

BP

GO:0086091

regulation of heart rate by cardiac conduction

A cardiac conduction process that modulates the frequency or rate of heart contraction.

IMP

BP

GO:0098911

regulation of ventricular cardiac muscle cell action potential

Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in a ventricular cardiac muscle cell contributing to the regulation of its contraction. This typically occurs via modulation of the activity or expression of voltage-gated ion channels.

IMP

CC

GO:0001533

cornified envelope

A type of plasma membrane that has been modified through addition of distinct intracellular and extracellular components, including ceramide, found in cornifying epithelial cells (corneocytes).

IDA

CC

GO:0005634

nucleus

A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

IDA

CC

GO:0005737

cytoplasm

All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

IEA

CC

GO:0005882

intermediate filament

A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins.

ISS

CC

GO:0005886

plasma membrane

The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

IDA|TAS

CC

GO:0005916

fascia adherens

A cell-cell adherens junction that contains the transmembrane protein N-cadherin, which interacts with identical molecules from neighboring cells to form a tight mechanical intercellular link; forms a large portion of the intercalated disc, the structure at which myofibrils terminate in cardiomyocytes.

IEA

CC

GO:0014704

intercalated disc

A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells.

IDA|ISS

CC

GO:0016323

basolateral plasma membrane

The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.

IEA

CC

GO:0030057

desmosome

A cell-cell junction in which: on the cytoplasmic surface of each interacting plasma membrane is a dense plaque composed of a mixture of intracellular anchor proteins; a bundle of keratin intermediate filaments is attached to the surface of each plaque; transmembrane adhesion proteins of the cadherin family bind to the plaques and interact through their extracellular domains to hold the adjacent membranes together by a Ca2+-dependent mechanism.

IEA

CC

GO:0031012

extracellular matrix

A structure lying external to one or more cells, which provides structural support for cells or tissues.

IDA

CC

GO:0070062

extracellular exosome

A membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.

IDA

MF

GO:0005080

protein kinase C binding

Interacting selectively and non-covalently with protein kinase C.

IPI

MF

GO:0005198

structural molecule activity

The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell.

IDA

MF

GO:0005200

structural constituent of cytoskeleton

The action of a molecule that contributes to the structural integrity of a cytoskeletal structure.

TAS

MF

GO:0005515

protein binding

Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules).

IPI

MF

GO:0030674

protein binding, bridging

The binding activity of a molecule that brings together two or more protein molecules, or a protein and another macromolecule or complex, through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way.

IDA

MF

GO:0044822

poly(A) RNA binding

Interacting non-covalently with a poly(A) RNA, a RNA molecule which has a tail of adenine bases.

IDA

MF

GO:0050839

cell adhesion molecule binding

Interacting selectively and non-covalently with a cell adhesion molecule.

IEA

MF

GO:0086083

cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication

Interacting selectively and non-covalently with any protein or protein complex that results in the connection of a bundle of His cell with a Purkinje myocyte and contributes to the communication between the two cells.

IC

MF

GO:0097110

scaffold protein binding

Interacting selectively and non-covalently with a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes.

IPI

Domain ID Description

IPR001101

Plectin repeat

IPR018159

Spectrin/alpha-actinin

IPR028462

Desmoplakin

Pathway ID Pathway Term Pathway Source

hsa05412

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

KEGG

WP2118

Arrhythmogenic Right Ventricular Cardiomyopathy

WikiPathways

WP3624

Lung fibrosis

WikiPathways

UMLS CUI UMLS Term

C0007193

Cardiomyopathy, Dilated

C0017661

Iga Glomerulonephritis

C0023976

Long Qt Syndrome

C0042510

Ventricular Fibrillation

C0085298

Sudden Cardiac Death

C0206062

Lung Diseases, Interstitial

C0349788

Arrhythmogenic Right Ventricular Dysplasia

C0878544

Cardiomyopathies

C1800706

Idiopathic Pulmonary Fibrosis

Tissue Cell Type

heart muscle

myocytes

skin

keratinocytes

vagina

squamous epithelial cells

No databases found.

Pubmed ID Author Year Title

12734205

Wood et al.

2003

The Molecular Phenotype of Polycystic Ovary Syndrome (PCOS) Theca Cells and New Candidate PCOS Genes Defined by Microarray Analysis

22617121

Ouandaogo et al.

2012

Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation

22951915

Haozi et al.

2012

Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome

Gene Symbol Entrez ID Uniprot ID Score

MED9

55090

Q9NWA0

0.00

AK2

204

P54819

0.49

HNMT

3176

P50135

0.49

KRT16

3868

P08779

0.49

PRKCA

5578

P17252

0.49

RAB5B

5869

P61020

0.49

VTN

7448

P04004

0.49

TECR

9524

Q9NZ01

0.49

OVCA2

124641

Q8WZ82

0.49

KRT6A

3853

P02538

0.55

DSC2

1824

Q02487

0.56

KRT5

3852

P13647

0.58

ENO3

2027

P13929

0.63

KRT8

3856

P05787

0.63

MYC

4609

P01106

0.63

PRKCE

5581

Q02156

0.63

TPR

7175

P12270

0.63

SEC22A

26984

Q96IW7

0.63

MAPRE1

22919

Q15691

0.70

NAP1L4

4676

Q99733

0.72

TELO2

9894

Q9Y4R8

0.72

HEATR3

55027

Q7Z4Q2

0.72

CEP72

55722

Q9P209

0.72

DSC1

1823

Q08554

0.75

IVL

3713

P07476

0.75

DSP

1832

P15924

0.78

PSEN1

5663

P49768

0.78

PKP4

8502

Q99569

0.78

HIST1H3A

8350

P68431

0.49

OFD1

8481

O75665

0.49

CNTRL

11064

Q7Z7A1

0.49

NINL

22981

Q9Y2I6

0.49

CEP152

22995

O94986

0.49

AHI1

54806

Q8N157

0.49

CNTROB

116840

Q8N137

0.49

CEP128

145508

Q6ZU80

0.49

CASP2

835

P42575

0.52

CASP4

837

P49662

0.52

CASP6

839

P55212

0.52

CASP7

840

P55210

0.52

CASP9

842

P55211

0.52

CASP10

843

Q92851

0.52

ARID3A

1820

Q99856

0.52

PRKACA

5566

P17612

0.52

PTEN

5728

P60484

0.56

SUMO1

7341

P63165

0.56

UCHL5

51377

Q9Y5K5

0.56

EVPL

2125

Q92817

0.62

AKR1B1

231

P15121

0.63

CD81

975

P60033

0.63

CDC5L

988

Q99459

0.63

CDK2

1017

P24941

0.63

MAP3K8

1326

P41279

0.63

MAPK14

1432

Q16539

0.63

ESR1

2099

P03372

0.63

ESR2

2100

Q92731

0.63

GH1

2688

P01241

0.63

HNRNPA1

3178

P09651

0.63

KRT18

3875

P05783

0.63

MCM2

4171

P49736

0.63

MCM5

4174

P33992

0.63

MDM2

4193

Q00987

0.63

NEDD8

4738

Q15843

0.63

NFKB1

4790

P19838

0.63

NFKBIB

4793

Q15653

0.63

NTRK1

4914

P04629

0.63

PPP2R2A

5520

P63151

0.63

PPP4C

5531

P60510

0.63

RPA1

6117

P27694

0.63

RPA2

6118

P15927

0.63

RPA3

6119

P35244

0.63

RPL31

6160

P62899

0.63

TUBG1

7283

P23258

0.63

VRK1

7443

Q99986

0.63

CUL3

8452

Q13618

0.63

CUL2

8453

Q13617

0.63

BECN1

8678

Q14457

0.63

EED

8726

O75530

0.63

PSTPIP1

9051

O43586

0.63

KIAA0101

9768

Q15004

0.63

CUL7

9820

Q14999

0.63

UBAC1

10422

Q9BSL1

0.63

SSSCA1

10534

O60232

0.63

COPS5

10987

Q92905

0.63

PKP3

11187

Q9Y446

0.63

GABARAP

11337

O95166

0.63

GABARAPL2

11345

P60520

0.63

ZBTB1

22890

Q9Y2K1

0.63

SNW1

22938

Q13573

0.63

OBSL1

23363

O75147

0.63

TARDBP

23435

Q13148

0.63

GABARAPL1

23710

Q9H0R8

0.63

BRD1

23774

O95696

0.63

INSIG2

51141

Q9Y5U4

0.63

SIRT7

51547

Q9NRC8

0.63

SIRT6

51548

Q8N6T7

0.63

WWOX

51741

Q9NZC7

0.63

CAND1

55832

Q86VP6

0.63

PBK

55872

Q96KB5

0.63

DOCK5

80005

Q9H7D0

0.63

MAP1LC3B

81631

Q9GZQ8

0.63

HDAC10

83933

Q969S8

0.63

CCDC8

83987

Q9H0W5

0.63

MAP1LC3A

84557

Q9H492

0.63

COL17A1

1308

Q9UMD9

0.65

PPP2R2B

5521

Q00005

0.68

YWHAZ

7534

P63104

0.68

FES

2242

P07332

0.72

FOXE1

2304

O00358

0.72

FOXA3

3171

P55318

0.72

IFIT3

3437

O14879

0.72

JAK1

3716

P23458

0.72

NFKB2

4791

Q00653

0.72

PCM1

5108

Q15154

0.72

RELB

5971

Q01201

0.72

DYNLL1

8655

P63167

0.72

IKBKE

9641

Q14164

0.72

IQCB1

9657

Q15051

0.72

SEC16A

9919

O15027

0.72

VCP

7415

P55072

0.73

CSTA

1475

P01040

0.75

STK24

8428

Q9Y6E0

0.76

CDH5

1003

P33151

0.77

PECAM1

5175

P16284

0.77

DES

1674

P17661

0.78

VIM

7431

P08670

0.78

PKP1

5317

Q13835

0.79

KRT1

3848

P04264

0.87

PKP2

5318

Q99959

0.87

JUP

3728

P14923

0.89