InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Dmd

Summary

InnateDB Gene

IDBG-158412.6

Last Modified

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

Gene Symbol

Dmd

Gene Name

dystrophin, muscular dystrophy

Synonyms

Dp427; Dp71; DXSmh7; DXSmh9; dys; mdx; pke

Species

Mus musculus

Ensembl Gene

ENSMUSG00000045103

Encoded Proteins

IDBP-252696

dystrophin, muscular dystrophy

IDBP-252702

dystrophin, muscular dystrophy

IDBP-252704

dystrophin, muscular dystrophy

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000198947:
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:82948870-85206141

Strand

Forward strand

Band

Transcripts

ENSMUST00000114000	ENSMUSP00000109633
ENSMUST00000113992	ENSMUSP00000109625
ENSMUST00000113991	ENSMUSP00000109624
ENSMUST00000127295
ENSMUST00000147740
ENSMUST00000141778
ENSMUST00000141261
ENSMUST00000139998
ENSMUST00000146331
ENSMUST00000156107
ENSMUST00000128983
ENSMUST00000132333
ENSMUST00000149433
ENSMUST00000123308

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.
They are also associated with 26 interaction(s) predicted by orthology.

Experimentally validated
Total	35 [view]
Protein-Protein	35 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	26 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
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:0016192	vesicle-mediated transport
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:0005856	cytoskeleton
GO:0005886	plasma membrane
GO:0016010	dystrophin-associated glycoprotein complex
GO:0016020	membrane
GO:0030018	Z disc
GO:0030055	cell-substrate junction
GO:0042383	sarcolemma
GO:0043234	protein complex
GO:0044306	neuron projection terminus
GO:0045121	membrane raft
GO:0045202	synapse
GO:0045211	postsynaptic membrane