DMD - Dystrophin - human protein (Function)
 
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DMD »  Dystrophin
 
Gene name:  DMD
Entry whose protein(s) existence is based on evidence at protein level
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1 112 10
GENE REF ISO

Function

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Overview 
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.  
1
  • CuratedUniProtKB
GO molecular function 
Actin bindingdefinition[GO:0003779]  
2
  • IDABHF-UCL
  • TASUniProtKB
Calcium ion bindingdefinition[GO:0005509] silver  
  • IEAInterPro 2 GO
Dystroglycan bindingdefinition[GO:0002162]  
1
  • IPIUniProtKB
Myosin bindingdefinition[GO:0017022]  
1
  • IDABHF-UCL
Nitric-oxide synthase bindingdefinition[GO:0050998]  
1
  • ISSBHF-UCL
Protein bindingdefinition[GO:0005515]  
5
  • IPIIntAct
  • IPIUniProtKB
Structural constituent of cytoskeletondefinition[GO:0005200]  
1
  • TASPINC
Structural constituent of muscledefinition[GO:0008307]  
2
  • IDAUniProtKB
Vinculin bindingdefinition[GO:0017166]  
1
  • IPIBHF-UCL
Zinc ion bindingdefinition[GO:0008270] silver  
  • IEAInterPro 2 GO
GO biological process 
Cardiac muscle cell action potentialdefinition[GO:0086001]  
2
  • ISSBHF-UCL
Cardiac muscle contractiondefinition[GO:0060048]  
1
  • IMPBHF-UCL
Cellular protein complex assemblydefinition[GO:0043623]  
2
  • ISSBHF-UCL
Cellular protein localizationdefinition[GO:0034613]  
1
  • IMPBHF-UCL
Isoform  Iso 5   Motile cilium assemblydefinition[GO:0044458]  
1
  • TASBHF-UCL
Muscle organ developmentdefinition[GO:0007517]  
1
  • NASPINC
Negative regulation of peptidyl-cysteine S-nitrosylationdefinition[GO:1902083]  
2
  • ISSBHF-UCL
Negative regulation of peptidyl-serine phosphorylationdefinition[GO:0033137]  
1
  • ISSBHF-UCL
Peptide biosynthetic processdefinition[GO:0043043]  
1
  • IDAUniProtKB
Isoform  Iso 5   Positive regulation of neuron differentiationdefinition[GO:0045666]  
1
  • IMPBHF-UCL
Isoform  Iso 5   Positive regulation of neuron projection developmentdefinition[GO:0010976]  
1
  • IMPBHF-UCL
Positive regulation of sodium ion transmembrane transporter activitydefinition[GO:2000651]  
1
  • ISSBHF-UCL
Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium iondefinition[GO:0010881]  
1
  • ISSBHF-UCL
Isoform  Iso 5   Regulation of cellular response to growth factor stimulusdefinition[GO:0090287]  
1
  • IMPBHF-UCL
Regulation of heart ratedefinition[GO:0002027]  
1
  • IMPBHF-UCL
Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumdefinition[GO:0010880]  
1
  • ISSBHF-UCL
Regulation of ryanodine-sensitive calcium-release channel activitydefinition[GO:0060314]  
1
  • ISSBHF-UCL
Regulation of skeletal muscle contractiondefinition[GO:0014819]  
1
  • ISSBHF-UCL
Regulation of skeletal muscle contraction by regulation of release of sequestered calcium iondefinition[GO:0014809]  
1
  • ISSBHF-UCL
Regulation of voltage-gated calcium channel activitydefinition[GO:1901385]  
1
  • ISSBHF-UCL
Pathways 
According to Reactome, this protein belongs to the following pathways:
Extracellular matrix organization  REACT_118779  
Muscle contraction  REACT_17044  
Note 
The DMD gene is the largest known gene in humans. It is 2.4 million base-pairs in size, comprises 79 exons and takes over 16 hours to be transcribed and cotranscriptionally spliced.  
  • CuratedUniProtKB
 

Keywords

Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

GeneWiki: Dystrophin
GenomeRNAi: 1756
PRO: PR:P11532