InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DMD

Summary

InnateDB Protein

IDBP-54133.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DMD

Protein Name

dystrophin

Synonyms

BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85;

Species

Homo sapiens

Ensembl Protein

ENSP00000354923

InnateDB Gene

IDBG-54131 (DMD)

Protein Structure

UniProt Annotation

Function

Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin- associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. {ECO:0000269PubMed:16710609}.

Subcellular Localization

Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}. Note=In muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of ANK3. Localizes to neuromuscular junctions (NMJs) in the presence of ANK2 (By similarity). {ECO:0000250}.

Disease Associations

Duchenne muscular dystrophy (DMD) [MIM:310200]: Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment. {ECO:0000269PubMed:12632325, ECO:0000269PubMed:7981690, ECO:0000269PubMed:8401582, ECO:0000269PubMed:8817332, ECO:0000269PubMed:9851445}. Note=The disease is caused by mutations affecting the gene represented in this entry.Becker muscular dystrophy (BMD) [MIM:300376]: A neuromuscular disorder characterized by dystrophin deficiency. It appears between the age of 5 and 15 years with a proximal motor deficiency of variable progression. Heart involvement can be the initial sign. Becker muscular dystrophy has a more benign course than Duchenne muscular dystrophy. {ECO:0000269PubMed:10573008}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:12354438, ECO:0000269PubMed:12359139, ECO:0000269PubMed:9170407}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma. Expressed in brain, muscle, kidney, lung and testis. Isoform 5 is expressed in heart, brain, liver, testis and hepatoma cells. Most tissues contain transcripts of multiple isoforms, however only isoform 5 is detected in heart and liver. {ECO:0000269PubMed:1319059, ECO:0000269PubMed:16000376, ECO:0000269PubMed:8541829}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.
They are also associated with 21 interaction(s) predicted by orthology.

Experimentally validated
Total	34 [view]
Protein-Protein	33 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	21 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0050998	nitric-oxide synthase binding

Biological Process

GO:0001954	positive regulation of cell-matrix adhesion
GO:0002027	regulation of heart rate
GO:0006355	regulation of transcription, DNA-templated
GO:0007517	muscle organ development
GO:0007519	skeletal muscle tissue development
GO:0008065	establishment of blood-nerve barrier
GO:0010468	regulation of gene expression
GO:0010880	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
GO:0014809	regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion
GO:0014819	regulation of skeletal muscle contraction
GO:0014904	myotube cell development
GO:0021629	olfactory nerve structural organization
GO:0033137	negative regulation of peptidyl-serine phosphorylation
GO:0034613	cellular protein localization
GO:0043623	cellular protein complex assembly
GO:0045213	neurotransmitter receptor metabolic process
GO:0046716	muscle cell cellular homeostasis
GO:0048747	muscle fiber development
GO:0051647	nucleus localization
GO:0060314	regulation of ryanodine-sensitive calcium-release channel activity
GO:0060857	establishment of glial blood-brain barrier
GO:0086001	cardiac muscle cell action potential
GO:1901385	regulation of voltage-gated calcium channel activity
GO:1902083	negative regulation of peptidyl-cysteine S-nitrosylation
GO:2000651	positive regulation of sodium ion transmembrane transporter activity

Cellular Component

GO:0005886	plasma membrane
GO:0016010	dystrophin-associated glycoprotein complex
GO:0030018	Z disc
GO:0030055	cell-substrate junction
GO:0042383	sarcolemma
GO:0044306	neuron projection terminus
GO:0045121	membrane raft
GO:0045202	synapse

Protein Structure and Domains

PDB ID

InterPro

IPR000433 Zinc finger, ZZ-type
IPR001202 WW domain
IPR001715 Calponin homology domain
IPR002017 Spectrin repeat
IPR015153 EF-hand domain, type 1
IPR015154 EF-hand domain, type 2
IPR016344 Dystrophin/utrophin
IPR018159 Spectrin/alpha-actinin
IPR022613 Calmodulin-regulated spectrin-associated protein, CH domain
IPR029058 Alpha/Beta hydrolase fold

PFAM