Gene Symbol | DES |
Entrez ID | 1674 |
Uniprot ID | P17661 |
Description | desmin |
Chromosomal Location | chr2: 219,418,377-219,426,739 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0006936 |
muscle contraction |
A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
TAS |
BP |
GO:0007010 |
cytoskeleton organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. |
TAS |
BP |
GO:0008016 |
regulation of heart contraction |
Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body. |
TAS |
BP |
GO:0030049 |
muscle filament sliding |
The sliding of actin thin filaments and myosin thick filaments past each other in muscle contraction. This involves a process of interaction of myosin located on a thick filament with actin located on a thin filament. During this process ATP is split and forces are generated. |
TAS |
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. |
IMP |
CC |
GO:0005829 |
cytosol |
The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
TAS |
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. |
IEA |
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 |
CC |
GO:0030018 |
Z disc |
Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
IDA |
CC |
GO:0031594 |
neuromuscular junction |
The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. |
IEA |
CC |
GO:0042383 |
sarcolemma |
The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. |
IDA |
CC |
GO:0045111 |
intermediate filament cytoskeleton |
Cytoskeletal structure made from intermediate filaments, typically organized in the cytosol as an extended system that stretches from the nuclear envelope to the plasma membrane. Some intermediate filaments run parallel to the cell surface, while others traverse the cytosol; together they form an internal framework that helps support the shape and resilience of the cell. |
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: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:0008092 |
cytoskeletal protein binding |
Interacting selectively and non-covalently with any protein component of any cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton). |
IPI |
MF |
GO:0042802 |
identical protein binding |
Interacting selectively and non-covalently with an identical protein or proteins. |
IPI |
Domain ID | Description |
---|---|
IPR001664 |
Intermediate filament protein |
IPR006821 |
Intermediate filament head, DNA-binding domain |
IPR018039 |
Intermediate filament protein, conserved site |
IPR027698 |
Desmin |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa05410 |
Hypertrophic cardiomyopathy (HCM) |
KEGG |
hsa05412 |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) |
KEGG |
hsa05414 |
Dilated cardiomyopathy |
KEGG |
WP2118 |
Arrhythmogenic Right Ventricular Cardiomyopathy |
WikiPathways |
WP383 |
Striated Muscle Contraction |
WikiPathways |
UMLS CUI | UMLS Term |
---|---|
C0004238 |
Atrial Fibrillation |
C0007193 |
Cardiomyopathy, Dilated |
C0017658 |
Glomerulonephritis |
C0024667 |
Animal Mammary Neoplasms |
C0024668 |
Mammary Neoplasms, Experimental |
C0027720 |
Nephrosis |
C0038356 |
Stomach Neoplasms |
C0598608 |
Hyperhomocysteinemia |
C0949658 |
Cardiomyopathy, Hypertrophic, Familial |
Tissue | Cell Type |
---|---|
heart muscle |
myocytes |
skeletal muscle |
myocytes |
smooth muscle |
smooth muscle cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
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 |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
HADHB |
3032 |
P55084 |
0.49 |
JUP |
3728 |
P14923 |
0.49 |
MYL6 |
4637 |
P60660 |
0.49 |
RPL17 |
6139 |
P18621 |
0.49 |
RPL29 |
6159 |
P47914 |
0.49 |
SNRNP70 |
6625 |
P08621 |
0.49 |
CCT7 |
10574 |
Q99832 |
0.49 |
HNRNPUL1 |
11100 |
Q9BUJ2 |
0.49 |
HSP90AA5P |
730211 |
Q58FG0 |
0.49 |
DES |
1674 |
P17661 |
0.55 |
BRCA1 |
672 |
P38398 |
0.63 |
EHHADH |
1962 |
Q08426 |
0.63 |
ENO1 |
2023 |
P06733 |
0.63 |
HSPB1 |
3315 |
P04792 |
0.63 |
SHBG |
6462 |
P04278 |
0.63 |
UBE2I |
7329 |
P63279 |
0.63 |
SNAPIN |
23557 |
O95295 |
0.63 |
PPP1R18 |
170954 |
Q6NYC8 |
0.63 |
DYSF |
8291 |
O75923 |
0.65 |
NEB |
4703 |
P20929 |
0.75 |
DSP |
1832 |
P15924 |
0.78 |
MTM1 |
4534 |
Q13496 |
0.79 |
S100B |
6285 |
P04271 |
0.52 |
ROCK1 |
6093 |
Q13464 |
0.55 |
AURKB |
9212 |
Q96GD4 |
0.55 |
CRYAB |
1410 |
P02511 |
0.56 |
SPTAN1 |
6709 |
Q13813 |
0.58 |
CAPN1 |
823 |
P07384 |
0.63 |
ATF2 |
1386 |
P15336 |
0.63 |
JUN |
3725 |
P05412 |
0.63 |
MOV10 |
4343 |
Q9HCE1 |
0.63 |
ITSN1 |
6453 |
Q15811 |
0.63 |
SP1 |
6667 |
P08047 |
0.63 |
YWHAZ |
7534 |
P63104 |
0.63 |
MAPKAPK2 |
9261 |
P49137 |
0.63 |
PTBP3 |
9991 |
O95758 |
0.63 |
SAP18 |
10284 |
O00422 |
0.63 |
UBD |
10537 |
O15205 |
0.63 |
YWHAQ |
10971 |
P27348 |
0.63 |
PLEKHA5 |
54477 |
Q9HAU0 |
0.63 |
IFT57 |
55081 |
Q9NWB7 |
0.63 |
SMURF2 |
64750 |
Q9HAU4 |
0.63 |
CLIP4 |
79745 |
Q8N3C7 |
0.63 |
TRIM7 |
81786 |
Q9C029 |
0.63 |
TRIM55 |
84675 |
Q9BYV6 |
0.63 |
TRIM63 |
84676 |
Q969Q1 |
0.63 |
GLI1 |
2735 |
P08151 |
0.72 |
PKD1 |
5310 |
P98161 |
0.74 |
S100A1 |
6271 |
P23297 |
0.75 |
SYNM |
23336 |
O15061 |
0.75 |
MLH1 |
4292 |
P40692 |
0.78 |
SYNC |
81493 |
Q9H7C4 |
0.84 |