Protein Description

Gene Symbol DMD
Entrez ID 1756
Uniprot ID P11532
Description dystrophin
Chromosomal Location chrX: 31,097,677-33,339,441
Ontology GO ID GO Term Definition Evidence

BP

GO:0002027

regulation of heart rate

Any process that modulates the frequency or rate of heart contraction.

IMP

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.

IEA

BP

GO:0007517

muscle organ development

The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work.

NAS

BP

GO:0010880

regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum

Any process that modulates the rate, frequency or extent of release of sequestered calcium ion into cytosol by the sarcoplasmic reticulum, the process in which the release of sequestered calcium ion by sarcoplasmic reticulum into cytosol occurs via calcium release channels.

ISS

BP

GO:0010881

regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion

Any process that modulates the frequency, rate or extent of cardiac muscle contraction via the regulation of the release of sequestered calcium ion by sarcoplasmic reticulum into cytosol. The sarcoplasmic reticulum is the endoplasmic reticulum of striated muscle, specialised for the sequestration of calcium ions that are released upon receipt of a signal relayed by the T tubules from the neuromuscular junction.

ISS

BP

GO:0014809

regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion

Any process that modulates the frequency, rate or extent of skeletal muscle contraction via the regulation of the release of sequestered calcium ion by sarcoplasmic reticulum into cytosol. The sarcoplasmic reticulum is the endoplasmic reticulum of striated muscle, specialised for the sequestration of calcium ions that are released upon receipt of a signal relayed by the T tubules from the neuromuscular junction.

ISS

BP

GO:0014819

regulation of skeletal muscle contraction

Any process that modulates the frequency, rate or extent of skeletal muscle contraction.

ISS

BP

GO:0016203

muscle attachment

The developmental process in which a skeletal muscle attaches to its target (such as bone or body wall).

IEA

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:0033137

negative regulation of peptidyl-serine phosphorylation

Any process that stops, prevents, or reduces the frequency, rate or extent of the phosphorylation of peptidyl-serine.

ISS

BP

GO:0034613

cellular protein localization

Any process in which a protein is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell.

IMP

BP

GO:0035994

response to muscle stretch

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a myofibril being extended beyond its slack length.

ISS

BP

GO:0043043

peptide biosynthetic process

The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide.

IDA

BP

GO:0043623

cellular protein complex assembly

The aggregation, arrangement and bonding together of a set of components to form a protein complex, occurring at the level of an individual cell.

ISS

BP

GO:0046716

muscle cell cellular homeostasis

The cellular homeostatic process that preserves a muscle cell in a stable functional or structural state.

ISS

BP

GO:0048747

muscle fiber development

The process whose specific outcome is the progression of the muscle fiber over time, from its formation to the mature structure. In skeletal muscle, fibers are formed by the maturation of myotubes. They can be classed as slow, intermediate/fast or fast.

ISS

BP

GO:0060048

cardiac muscle contraction

Muscle contraction of cardiac muscle tissue.

IMP

BP

GO:0060314

regulation of ryanodine-sensitive calcium-release channel activity

Any process that modulates the activity of a ryanodine-sensitive calcium-release channel. The ryanodine-sensitive calcium-release channel catalyzes the transmembrane transfer of a calcium ion by a channel that opens when a ryanodine class ligand has been bound by the channel complex or one of its constituent parts.

ISS

BP

GO:0086001

cardiac muscle cell action potential

An action potential that occurs in a cardiac muscle cell.

ISS

BP

GO:1901385

regulation of voltage-gated calcium channel activity

Any process that modulates the frequency, rate or extent of voltage-gated calcium channel activity.

ISS

BP

GO:1902083

negative regulation of peptidyl-cysteine S-nitrosylation

Any process that stops, prevents or reduces the frequency, rate or extent of peptidyl-cysteine S-nitrosylation.

ISS

BP

GO:2000651

positive regulation of sodium ion transmembrane transporter activity

Any process that activates or increases the frequency, rate or extent of sodium ion transmembrane transporter activity.

ISS

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:0005856

cytoskeleton

Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.

IEA

CC

GO:0009986

cell surface

The external part of the cell wall and/or plasma membrane.

IDA

CC

GO:0016010

dystrophin-associated glycoprotein complex

A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase.

IDA|NAS|TAS

CC

GO:0016013

syntrophin complex

A protein complex that includes alpha-, beta1-, beta2-syntrophins and syntrophin-like proteins; the syntrophin complex binds to the second half of the carboxy-terminal domain of dystrophin; also associates with neuronal nitric oxide synthase.

TAS

CC

GO:0016328

lateral plasma membrane

The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells.

TAS

CC

GO:0030018

Z disc

Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.

ISS

CC

GO:0030055

cell-substrate junction

A cell junction that forms a connection between a cell and the extracellular matrix.

ISS

CC

GO:0030175

filopodium

Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft.

IDA

CC

GO:0031527

filopodium membrane

The portion of the plasma membrane surrounding a filopodium.

IDA

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:0043034

costamere

Regular periodic sub membranous arrays of vinculin in skeletal and cardiac muscle cells, these arrays link Z-discs to the sarcolemma and are associated with links to extracellular matrix.

IDA

CC

GO:0043234

protein complex

A stable macromolecular complex composed (only) of two or more polypeptide subunits along with any covalently attached molecules (such as lipid anchors or oligosaccharide) or non-protein prosthetic groups (such as nucleotides or metal ions). Prosthetic group in this context refers to a tightly bound cofactor. The component polypeptide subunits may be identical.

IDA

CC

GO:0044306

neuron projection terminus

The specialized, terminal region of a neuron projection such as an axon or a dendrite.

ISS

CC

GO:0045121

membrane raft

Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.

ISS

CC

GO:0045202

synapse

The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

ISS

CC

GO:0045211

postsynaptic membrane

A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane.

IEA

MF

GO:0002162

dystroglycan binding

Interacting selectively and non-covalently with dystroglycan. Dystroglycan is glycoprotein found in non-muscle tissues as well as in muscle tissues, often in association with dystrophin. The native dystroglycan cleaved into two non-covalently associated subunits, alpha (N-terminal) and beta (C-terminal).

IPI

MF

GO:0003779

actin binding

Interacting selectively and non-covalently with monomeric or multimeric forms of actin, including actin filaments.

IDA|TAS

MF

GO:0005200

structural constituent of cytoskeleton

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

IEA

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:0008270

zinc ion binding

Interacting selectively and non-covalently with zinc (Zn) ions.

IEA

MF

GO:0008307

structural constituent of muscle

The action of a molecule that contributes to the structural integrity of a muscle fiber.

IDA|TAS

MF

GO:0017022

myosin binding

Interacting selectively and non-covalently with any part of a myosin complex; myosins are any of a superfamily of molecular motor proteins that bind to actin and use the energy of ATP hydrolysis to generate force and movement along actin filaments.

IDA

MF

GO:0017166

vinculin binding

Interacting selectively and non-covalently with vinculin, a protein found in muscle, fibroblasts, and epithelial cells that binds actin and appears to mediate attachment of actin filaments to integral proteins of the plasma membrane.

IPI

MF

GO:0050998

nitric-oxide synthase binding

Interacting selectively and non-covalently with the enzyme nitric-oxide synthase.

ISS

Domain ID Description

IPR000433

Zinc finger, ZZ-type

IPR001202

WW domain

IPR001589

Actinin-type actin-binding domain, conserved site

IPR001715

Calponin homology domain

IPR002017

Spectrin repeat

IPR011992

EF-hand domain pair

IPR015153

EF-hand domain, type 1

IPR015154

EF-hand domain, type 2

IPR016344

Dystrophin

IPR018159

Spectrin/alpha-actinin

Pathway ID Pathway Term Pathway Source

hsa05410

Hypertrophic cardiomyopathy (HCM)

KEGG

hsa05412

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

KEGG

hsa05414

Dilated cardiomyopathy

KEGG

hsa05416

Viral myocarditis

KEGG

WP2118

Arrhythmogenic Right Ventricular Cardiomyopathy

WikiPathways

WP383

Striated Muscle Contraction

WikiPathways

WP2858

Ectoderm Differentiation

WikiPathways

h_agrPathway

Agrin in Postsynaptic Differentiation

BioCarta

UMLS CUI UMLS Term

C0006663

Calcinosis

C0007193

Cardiomyopathy, Dilated

C0013264

Muscular Dystrophy, Duchenne

C0018800

Cardiomegaly

C0023269

Leiomyosarcoma

C0026850

Muscular Dystrophy

C0026851

Muscular Dystrophy, Animal

C0027540

Necrosis

C0027626

Neoplasm Invasiveness

C0027627

Neoplasm Metastasis

C0038220

Status Epilepticus

C0206656

Rhabdomyosarcoma, Embryonal

C0238198

Gastrointestinal Stromal Tumors

C0242973

Ventricular Dysfunction

C0878544

Cardiomyopathies

C0917713

Becker Muscular Dystrophy

No tissues found.

Database Name

DisGeNET

Pubmed ID Author Year Title

21411543

Savaris et al.

2011

Progesterone Resistance in PCOS Endometrium: A Microarray Analysis in Clomiphene Citrate-Treated and Artificial Menstrual Cycles

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

NEDD4

4734

P46934

0.49

FASLG

356

P48023

0.52

NOS1

4842

P29475

0.52

UTRN

7402

P46939

0.52

ANK2

287

Q01484

0.56

APP

351

P05067

0.56

ACTC1

70

P68032

0.62

CDC25A

993

P30304

0.63

SGK1

6446

O00141

0.63

CTNNAL1

8727

Q9UBT7

0.63

RANBP9

10048

Q96S59

0.63

AHNAK

79026

Q09666

0.63

HAUS1

115106

Q96CS2

0.63

PTRF

284119

Q6NZI2

0.63

KRT8

3856

P05787

0.67

DMD

1756

P11532

0.68

DISC1

27185

Q9NRI5

0.73

KRT19

3880

P08727

0.77

ACTA1

58

P68133

0.87

DAG1

1605

Q14118

0.90

SNTA1

6640

Q13424

0.97

CTNNA1

1495

P35221

0.49

DGKZ

8525

Q13574

0.52

SGCZ

137868

Q96LD1

0.52

EEF1G

1937

P26641

0.63

MARK2

2011

Q7KZI7

0.63

HDAC1

3065

Q13547

0.63

MCM2

4171

P49736

0.63

MAP3K5

4217

Q99683

0.63

NFX1

4799

Q12986

0.63

RPL6

6128

Q02878

0.63

TERF1

7013

P54274

0.63

TERF2

7014

Q15554

0.63

XPO1

7514

O14980

0.63

GAN

8139

Q9H2C0

0.63

NUP58

9818

Q9BVL2

0.63

LPAR6

10161

P43657

0.63

TRAF3IP1

26146

Q8TDR0

0.63

LARP1B

55132

Q659C4

0.63

KIF15

56992

Q9NS87

0.63

PGM5

5239

Q15124

0.65

SNTG2

54221

Q9NY99

0.67

CADPS

8618

Q9ULU8

0.70

CADPS2

93664

Q86UW7

0.70

ALB

213

P02768

0.72

ARRB1

408

P49407

0.72

KCNJ4

3761

P48050

0.72

KCNJ12

3768

Q14500

0.74

SNTG1

54212

Q9NSN8

0.77

SNTB2

6645

Q13425

0.93

SNTB1

6641

Q13884

0.95

DTNB

1838

O60941

0.96

DTNA

1837

Q9Y4J8

0.99