Dystrophin / TRP channels
Name: Dystrophin
(Dystrophin)
Official Symbol: DMD
provided by HGNC
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.
Source: Reorganizing the protein space at the Universal Protein Resource (UniProt)
Nucleic Acids Res. 40: D71-D75 (2012).
Species | External DB | |||||||||
---|---|---|---|---|---|---|---|---|---|---|
Entrez Gene | UniprotKB | DIP | IntAct | MINT | BioGRID | STRING | IUPHAR-DB | KEGG | OMIM | |
Human
|
1756 | P11532 | DIP-32593N | P11532 | MINT-109755 | 108096 | P11532 | hsa:1756 | 300377 | |
Mouse
|
13405 | P11531 | DIP-32899N | P11531 | MINT-85369 | 199245 | P11531 | mmu:13405 | ||
Rat
|
24907 | P11530 | DIP-33674N | P11530 | UNK-5371352 | 247015 | P11530 | rno:24907 |
PPI pairs:
Biological Process:
- GO:0060048 : cardiac muscle contraction
- GO:0043623 : cellular protein complex assembly
- GO:0046716 : muscle cell homeostasis
- GO:0030049 : muscle filament sliding
- GO:0007517 : muscle organ development
- GO:0033137 : negative regulation of peptidyl-serine phosphorylation
- GO:0048812 : neuron projection morphogenesis
- GO:0045213 : neurotransmitter receptor metabolic process
- GO:0021629 : olfactory nerve structural organization
- GO:0043043 : peptide biosynthetic process
- GO:0086001 : regulation of cardiac muscle cell action potential
- GO:0010881 : regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
- GO:0002027 : regulation of heart rate
- GO:2000169 : regulation of peptidyl-cysteine S-nitrosylation
- GO:0060314 : regulation of ryanodine-sensitive calcium-release channel activity
- GO:0014809 : regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion
- GO:0006355 : regulation of transcription, DNA-dependent
- GO:0007519 : skeletal muscle tissue development
Source: The Gene Ontology Consortium. Gene ontology: tool for the unification of biology. Nat. Genet.. May 2000;25(1):25-9.
World Wide Web URL: http://www.geneontology.org/
World Wide Web URL: http://www.geneontology.org/
Disease:
- OMIM:300377 : Duchenne muscular dystrophy (OMIM:310200 )
- OMIM:300377 : Becker muscular dystrophy (OMIM:300376 )
- OMIM:300377 : Cardiomyopathy, dilated, 3B (OMIM:302045 )
Source: Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine,
Johns Hopkins University (Baltimore, MD), May, 2012.
World Wide Web URL: http://omim.org/
World Wide Web URL: http://omim.org/
Screening Validation: In vitro validation Validation: In vivo validation Characterization Functional consequence | top |
Screening | ||||||||||
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Experimental screening | Non-experimental screening | Reference | ||||||||
TRP channel construct | Interactor source | |||||||||
TRP channel | Interactor | Method | Species | Region | Species | Organ/tissue | Sample type | |||
TRPC1 | Dystrophin | Inference | Prediction | 17202249 |
(:
click the arrow icon to show interactions only between the corresponding TRP channel and the interactor)
Screening Validation: In vitro validation Validation: In vivo validation Characterization Functional consequence | top |
Validation: In vivo validation | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|
Assay with endogenous proteins | Assay with overexpressed proteins | Reference | ||||||||
Cell or tissue | Cell or tissue | TRP channel construct | Interactor construct | |||||||
TRP channel | Interactor | Method | Species | Region | Species | Region | ||||
TRPC1 | Dystrophin | Co-immunofluorescence staining | SolC57 | 17202249 | ||||||
TRPC1 | Dystrophin | Co-immunoprecipitation | Mouse hind limb muscle | 17202249 | ||||||
TRPC1 | Dystrophin | Co-immunoprecipitation | SolC57 | 17202249 |
(:
click the arrow icon to show interactions only between the corresponding TRP channel and the interactor)