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 |
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 |