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desmoplakin

Summary

Gene Symbol

Organism

Homo sapiens (human)

External Links

NCBI Gene

1832

PubChem

1832

Alliance of Genome Resources

HGNC:3052

Annotation

Keyword

3D-structure
Alternative splicing
Cardiomyopathy
Cell junction
Cell membrane
Cell projection
Coiled coil
Cytoplasm
DNA-binding
Disease variant
Epidermolysis bullosa
Methylation
Nucleus
Palmoplantar keratoderma
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
SH3 domain

Proteins

Displaying **all 3** entries
UniProt	Protein Name
A0AAQ5BH43
P15924	250/210 kDa paraneoplastic pemphigus antigen
B4DKX6

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 16 in total

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GO Term	Evidence Code	PMID
desmosome organization	ISS	16917092
ventricular compact myocardium morphogenesis	ISS	16917092
epidermis development	TAS	9887343
peptide cross-linking	IDA
keratinocyte differentiation	IDA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

peptide cross-linking

primary metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

peptide cross-linking

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

peptide cross-linking

macromolecule modification [inference]

protein modification process [inference]

peptide cross-linking

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

peptide cross-linking

cellular process [inference]

cell adhesion [inference]

cell-cell adhesion

homotypic cell-cell adhesion [inference]

cardiac muscle cell-cardiac muscle cell adhesion [inference]

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

heterotypic cell-cell adhesion [inference]

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

epithelial cell-cell adhesion

intermediate filament-based process [inference]

intermediate filament cytoskeleton organization

intermediate filament organization

cellular developmental process [inference]

cell differentiation [inference]

epithelial cell differentiation [inference]

epidermal cell differentiation [inference]

keratinocyte differentiation

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to cell junction [inference]

protein localization to cell-cell junction

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization [inference]

intermediate filament cytoskeleton organization

intermediate filament organization

cell junction organization [inference]

cell-cell junction organization [inference]

supramolecular fiber organization [inference]

intermediate filament organization

developmental process [inference]

anatomical structure morphogenesis [inference]

tissue morphogenesis [inference]

muscle tissue morphogenesis [inference]

cardiac muscle tissue morphogenesis [inference]

ventricular cardiac muscle tissue morphogenesis [inference]

ventricular compact myocardium morphogenesis

anatomical structure development [inference]

tissue development [inference]

epidermis development

animal organ development [inference]

skin development

cellular developmental process [inference]

cell differentiation [inference]

epithelial cell differentiation [inference]

epidermal cell differentiation [inference]

keratinocyte differentiation

response to stimulus [inference]

response to stress [inference]

response to wounding [inference]

wound healing

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to cell junction [inference]

protein localization to cell-cell junction

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to cell junction [inference]

protein localization to cell-cell junction

biological regulation [inference]

regulation of biological process [inference]

regulation of cellular process [inference]

regulation of actin filament-based process [inference]

regulation of actin filament-based movement [inference]

regulation of cardiac muscle cell contraction [inference]

regulation of ventricular cardiac muscle cell action potential

regulation of multicellular organismal process [inference]

regulation of system process [inference]

regulation of muscle system process [inference]

regulation of muscle contraction [inference]

regulation of striated muscle contraction [inference]

regulation of cardiac muscle contraction [inference]

regulation of cardiac muscle cell contraction [inference]

regulation of ventricular cardiac muscle cell action potential

regulation of blood circulation [inference]

regulation of heart contraction [inference]

regulation of heart rate [inference]

regulation of heart rate by cardiac conduction

regulation of cardiac muscle contraction [inference]

regulation of cardiac muscle cell contraction [inference]

regulation of ventricular cardiac muscle cell action potential

cardiac conduction [inference]

regulation of heart rate by cardiac conduction

regulation of action potential [inference]

regulation of cardiac muscle cell action potential [inference]

regulation of ventricular cardiac muscle cell action potential

regulation of biological quality [inference]

regulation of heart rate [inference]

regulation of heart rate by cardiac conduction

regulation of membrane potential [inference]

regulation of action potential [inference]

regulation of cardiac muscle cell action potential [inference]

regulation of ventricular cardiac muscle cell action potential

Displaying entries **1 - 5** of 20 in total

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GO Term	Evidence Code	PMID
cornified envelope	TAS
cornified envelope	IDA
nucleus	HDA	21630459
cytoplasm	ISS
cytoplasm	IBA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytoplasm

membrane [inference]

plasma membrane

cornified envelope

organelle membrane [inference]

vesicle membrane [inference]

cytoplasmic vesicle membrane [inference]

secretory granule membrane [inference]

ficolin-1-rich granule membrane

bounding membrane of organelle [inference]

secretory granule membrane [inference]

ficolin-1-rich granule membrane

plasma membrane region [inference]

basolateral plasma membrane

cell junction [inference]

anchoring junction [inference]

cell-cell junction [inference]

cell-cell contact zone [inference]

intercalated disc

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

nucleus

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

polymeric cytoskeletal fiber [inference]

intermediate filament

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
RNA binding	HDA	22658674
protein kinase C binding	IPI	18474624
structural molecule activity	IBA
structural constituent of cytoskeleton	TAS	9887343
protein binding	IPI	10852826 11790773 12482924 16917092 19136012 21062920 23444369 25225338 25852190 32707033

GO Hierarchy

molecular function

structural molecule activity

structural constituent of cytoskeleton

binding [inference]

protein binding

enzyme binding [inference]

kinase binding [inference]

protein kinase binding [inference]

protein kinase C binding

cell adhesion molecule binding [inference]

cell adhesion mediator activity [inference]

cell-cell adhesion mediator activity [inference]

protein binding involved in heterotypic cell-cell adhesion [inference]

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

scaffold protein binding

organic cyclic compound binding [inference]

nucleic acid binding [inference]

RNA binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Desmoplakin

Functional Category

E: Amino acid transport and metabolism
G: Carbohydrate transport and metabolism
O: Posttranslational modification, protein turnover, chaperones

Displaying **all 4** entries
Gene Ontology
intermediate filament cytoskeleton organization
skin development
structural molecule activity
wound healing

Displaying **all 7** entries
InterPro
Desmoplakin, SH3 domain
Desmoplakin, spectrin-like domain
Plakin repeat superfamily
Plakin
Plectin repeat
SH3 domain
Spectrin/alpha-actinin

Disease

Disease Ontology

Displaying **all 5** entries
DO ID	Disease Name	Source
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	Alliance of Genome Resources
DOID:0081109	keratosis palmoplantaris striata 2	Alliance of Genome Resources
DOID:0090128	Carvajal syndrome	Alliance of Genome Resources
DOID:0110076	arrhythmogenic right ventricular dysplasia 8	Alliance of Genome Resources
DOID:12930	dilated cardiomyopathy	Alliance of Genome Resources