Protein Description

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

No databases found.

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