Version 5.4
Homo sapiens Gene: DMD
Summary
InnateDB Gene IDBG-54131.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DMD
Gene Name dystrophin
Synonyms BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Species Homo sapiens
Ensembl Gene ENSG00000198947
Encoded Proteins
IDBP-54133
dystrophin
IDBP-54135
dystrophin
IDBP-54137
dystrophin
IDBP-54139
dystrophin
IDBP-54141
dystrophin
IDBP-54143
dystrophin
IDBP-54145
dystrophin
IDBP-54147
dystrophin
IDBP-54149
dystrophin
IDBP-54157
dystrophin
IDBP-54159
dystrophin
IDBP-54161
dystrophin
IDBP-366535
dystrophin
IDBP-366537
dystrophin
IDBP-366553
dystrophin
IDBP-477593
dystrophin
IDBP-474858
dystrophin
IDBP-480923
dystrophin
IDBP-583501
dystrophin
IDBP-806582
dystrophin
IDBP-806584
dystrophin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:31097677-33339441
Strand Reverse strand
Band p21.1
Transcripts
ENST00000357033 ENSP00000354923
ENST00000378723 ENSP00000367997
ENST00000358062 ENSP00000350765
ENST00000359836 ENSP00000352894
ENST00000378707 ENSP00000367979
ENST00000343523 ENSP00000340057
ENST00000378705 ENSP00000367977
ENST00000378702 ENSP00000367974
ENST00000361471 ENSP00000354464
ENST00000378680 ENSP00000367951
ENST00000288447 ENSP00000288447
ENST00000378677 ENSP00000367948
ENST00000445312
ENST00000448370 ENSP00000388559
ENST00000420596 ENSP00000399897
ENST00000447523 ENSP00000395904
ENST00000474231 ENSP00000417123
ENST00000475732
ENST00000469142
ENST00000471779 ENSP00000417075
ENST00000488902
ENST00000493412 ENSP00000417725
ENST00000480751
ENST00000472681
ENST00000472266
ENST00000463609
ENST00000541735 ENSP00000444119
ENST00000620040 ENSP00000478150
ENST00000619831 ENSP00000479270
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:0002162 dystroglycan binding
GO:0003779 actin binding
GO:0005200 structural constituent of cytoskeleton
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0008307 structural constituent of muscle
GO:0017022 myosin binding
GO:0017166 vinculin 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:0010976 positive regulation of neuron projection development
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:0030049 muscle filament sliding
GO:0030198 extracellular matrix organization
GO:0033137 negative regulation of peptidyl-serine phosphorylation
GO:0034613 cellular protein localization
GO:0043043 peptide biosynthetic process
GO:0043623 cellular protein complex assembly
GO:0044458 motile cilium assembly
GO:0045213 neurotransmitter receptor metabolic process
GO:0045666 positive regulation of neuron differentiation
GO:0046716 muscle cell cellular homeostasis
GO:0048747 muscle fiber development
GO:0051647 nucleus localization
GO:0060048 cardiac muscle contraction
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:0090287 regulation of cellular response to growth factor stimulus
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:0005634 nucleus
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0015629 actin cytoskeleton
GO:0016010 dystrophin-associated glycoprotein complex
GO:0016013 syntrophin complex
GO:0016328 lateral plasma membrane
GO:0030018 Z disc
GO:0030054 cell junction
GO:0030055 cell-substrate junction
GO:0030175 filopodium
GO:0031527 filopodium membrane
GO:0042383 sarcolemma
GO:0043034 costamere
GO:0043234 protein complex
GO:0044306 neuron projection terminus
GO:0045121 membrane raft
GO:0045202 synapse
GO:0045211 postsynaptic membrane
Orthologs
Species
Mus musculus
Gene ID
Gene Order
ENSMUSG00000045103
View Gene Order
Pathways
NETPATH
REACTOME
REACT_16969
Striated Muscle Contraction pathway
REACT_118779
Extracellular matrix organization pathway
REACT_163874
Non-integrin membrane-ECM interactions pathway
REACT_17044
Muscle contraction pathway
KEGG
hsa05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
hsa05410
Hypertrophic cardiomyopathy (HCM) pathway
hsa05414
Dilated cardiomyopathy pathway
hsa05416
Viral myocarditis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.495912 Hs.653669
RefSeq NM_000109 NM_004006 NM_004009 NM_004010 NM_004011 NM_004012 NM_004013 NM_004014 NM_004015 NM_004016 NM_004017 NM_004018 NM_004020 NM_004021 NM_004022 NM_004023
HUGO
OMIM
CCDS CCDS14231 CCDS14232 CCDS14233 CCDS14234 CCDS48091 CCDS55394 CCDS55395 CCDS75965
HPRD 02303
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca