Dmd dystrophin, muscular dystrophy [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dmdprovided by MGI
Official Full Name: dystrophin, muscular dystrophyprovided by MGI
Primary source: MGI:MGI:94909
See related: Ensembl:ENSMUSG00000045103 AllianceGenome:MGI:94909
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: dys; mdx; pke; Dp71; Dp427; DXSmh7; DXSmh9
Summary: This gene encodes a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers in skeletal and cardiac muscles. The encoded protein, dystrophin, is part of the dystrophin-glycoprotein complex, which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. This protein is required for proper development and organization of myofibers as contractile units in striated muscles. Mutations in the human gene cause Duchenne and Becker Muscular Dystrophies and a form of heart disease called DMD-associated dilated cardiomyopathy. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2015]
Expression: Broad expression in bladder adult (RPKM 4.4), frontal lobe adult (RPKM 2.2) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: X C1; X 38.38 cM

Exon count:: 85

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (81858244..84248656)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (82814664..85205050)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The missense mutation C667F in murine beta-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization.
Title: The missense mutation C667F in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization.
Learning, memory and blood-brain barrier pathology in Duchenne muscular dystrophy mice lacking Dp427, or Dp427 and Dp140.
Title: Learning, memory and blood-brain barrier pathology in Duchenne muscular dystrophy mice lacking Dp427, or Dp427 and Dp140.
Dystrophin 71 deficiency causes impaired aquaporin-4 polarization contributing to glymphatic dysfunction and brain edema in cerebral ischemia.
Title: Dystrophin 71 deficiency causes impaired aquaporin-4 polarization contributing to glymphatic dysfunction and brain edema in cerebral ischemia.
Social and emotional alterations in mice lacking the short dystrophin-gene product, Dp71.
Title: Social and emotional alterations in mice lacking the short dystrophin-gene product, Dp71.
Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism.
Title: Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism.
Improved mitochondrial function in the hearts of sarcolipin-deficient dystrophin and utrophin double-knockout mice.
Title: Improved mitochondrial function in the hearts of sarcolipin-deficient dystrophin and utrophin double-knockout mice.
Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy.
Title: Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy.
AAV-Mediated Restoration of Dystrophin-Dp71 in the Brain of Dp71-Null Mice: Molecular, Cellular and Behavioral Outcomes.
Title: AAV-Mediated Restoration of Dystrophin-Dp71 in the Brain of Dp71-Null Mice: Molecular, Cellular and Behavioral Outcomes.
Right ventricular preload and afterload challenge induces contractile dysfunction and arrhythmia in isolated hearts of dystrophin-deficient male mice.
Title: Right ventricular preload and afterload challenge induces contractile dysfunction and arrhythmia in isolated hearts of dystrophin-deficient male mice.
In-Frame Deletion of Dystrophin Exons 8-50 Results in DMD Phenotype.
Title: In-Frame Deletion of Dystrophin Exons 8-50 Results in DMD Phenotype.

Submit: New GeneRIF Correction See all GeneRIFs (243)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (4) 1 citation
Endonuclease-mediated (16) 1 citation
Gene trapped (4) 1 citation
Spontaneous (1)
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

px-31d12 (e-PCR)
- UniSTS:257579

D6S1171E (e-PCR)
- UniSTS:151092

DXMit242 (e-PCR), detects polymorphism
- UniSTS:142904

DMD (e-PCR)
- UniSTS:99128

PMC108984P1 (e-PCR)
- UniSTS:270148

px-17h8 (e-PCR)
- UniSTS:257351

RH126780 (e-PCR)
- UniSTS:209739

DXMit8 (e-PCR), detects polymorphism
- UniSTS:132186

DXMit8.3 (e-PCR), detects polymorphism
- UniSTS:132187

UniSTS:225118 (e-PCR)
- UniSTS:225118

px-31d5 (e-PCR)
- UniSTS:243301

px-43d3 (e-PCR)
- UniSTS:258411

MARC_84337-84338:1278013457:1 (e-PCR)
- UniSTS:532589

UniSTS:224881 (e-PCR)
- UniSTS:224881

px-36d2 (e-PCR)
- UniSTS:257656

px-37a5 (e-PCR)
- UniSTS:257666

PMC316713P2 (e-PCR)
- UniSTS:273040

px-37g10 (e-PCR)
- UniSTS:257682

px-37h5 (e-PCR)
- UniSTS:257686

px-38f10 (e-PCR)
- UniSTS:257697

DXWox19 (e-PCR)
- UniSTS:517795

NoName (e-PCR)
- UniSTS:224938

px-39e3 (e-PCR)
- UniSTS:257715

px-3a7 (e-PCR)
- UniSTS:257727

px-26g10 (e-PCR)
- UniSTS:257492

px-61b1 (e-PCR)
- UniSTS:258029

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables PDZ domain binding	IEA Inferred from Electronic Annotation more info
enables PDZ domain binding	ISO Inferred from Sequence Orthology more info
enables actin binding	IEA Inferred from Electronic Annotation more info
enables actin binding	ISO Inferred from Sequence Orthology more info
enables dystroglycan binding	ISO Inferred from Sequence Orthology more info
enables integrin binding	IEA Inferred from Electronic Annotation more info
enables integrin binding	ISO Inferred from Sequence Orthology more info
enables lamin binding	IEA Inferred from Electronic Annotation more info
enables lamin binding	ISO Inferred from Sequence Orthology more info
enables myosin binding	ISO Inferred from Sequence Orthology more info
enables nitric-oxide synthase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables structural constituent of muscle	ISO Inferred from Sequence Orthology more info
enables vinculin binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in cerebral cortex development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within connective tissue development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within determination of adult lifespan	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within establishment of blood-nerve barrier	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of glial blood-brain barrier	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within limb development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within multicellular organismal reproductive process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within muscle cell cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in muscle cell development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within muscle cell development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle organ development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myotube cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of peptidyl-cysteine S-nitrosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of peptidyl-serine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron projection morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in neuron projection morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within nucleus localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within olfactory nerve structural organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptide biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell-matrix adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of sodium ion transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization	ISO Inferred from Sequence Orthology more info
involved_in protein-containing complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within reactive oxygen species biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cellular response to growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in regulation of cellular response to growth factor stimulus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart rate	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of muscle system process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of ryanodine-sensitive calcium-release channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of skeletal muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of voltage-gated calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to denervation involved in regulation of muscle adaptation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to muscle stretch	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle tissue development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within skeletal muscle tissue development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue regeneration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within striated muscle cell development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within striated muscle contraction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in synaptic signaling	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_positive_effect synaptic transmission, cholinergic	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within walking behavior	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in GABA-ergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in GABA-ergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in astrocyte projection	IEA Inferred from Electronic Annotation more info
located_in astrocyte projection	ISO Inferred from Sequence Orthology more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	ISO Inferred from Sequence Orthology more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in cell-substrate junction	IDA Inferred from Direct Assay more info	PubMed
located_in costamere	ISO Inferred from Sequence Orthology more info
part_of dystrophin-associated glycoprotein complex	IDA Inferred from Direct Assay more info	PubMed
part_of dystrophin-associated glycoprotein complex	ISO Inferred from Sequence Orthology more info
located_in filopodium	ISO Inferred from Sequence Orthology more info
located_in filopodium membrane	ISO Inferred from Sequence Orthology more info
located_in lamellipodium	IEA Inferred from Electronic Annotation more info
located_in lamellipodium	ISO Inferred from Sequence Orthology more info
located_in matrix side of mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in matrix side of mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial outer membrane	ISO Inferred from Sequence Orthology more info
located_in myofibril	ISO Inferred from Sequence Orthology more info
located_in neurofilament	IEA Inferred from Electronic Annotation more info
located_in neurofilament	ISO Inferred from Sequence Orthology more info
located_in neuron projection terminus	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
located_in postsynaptic density	ISO Inferred from Sequence Orthology more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic specialization	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed
located_in ribosome	IEA Inferred from Electronic Annotation more info
located_in ribosome	ISO Inferred from Sequence Orthology more info
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
located_in sarcolemma	ISO Inferred from Sequence Orthology more info
located_in secretory granule	IEA Inferred from Electronic Annotation more info
located_in secretory granule	ISO Inferred from Sequence Orthology more info
located_in synapse	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: dystrophin

Names: X-linked muscular dystrophy; dystrophin Dp427-E40e; dystrophin Dp71d(delta71,73-74); dystrophin Dp71f-delta71,74; dystrophin E40e; dystrophin E51b; dystrophin delta-E40e

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001314034.1 → NP_001300963.1 dystrophin isoform Dp71b

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the use of an alternate promoter, and has multiple differences compared to variant 1. These differences result in distinct 5' and 3' UTRs, and a frameshift, compared to variant 1. The encoded isoform (Dp71b) has distinct N- and C-termini, and is shorter, compared to isoform 1.

Source sequence(s)

AK045257, AK159639, AL645477, BQ558690, CX200477, KJ480730

UniProtKB/TrEMBL

A0A023ZT56, A0A1Q1PRS9

Conserved Domains (3) summary

COG1196
Location:367 → 537

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd02334
Location:243 → 291

ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...

cd16246
Location:57 → 218

EFh_DMD; EF-hand-like motif found in dystrophin
NM_001314035.1 → NP_001300964.1 dystrophin isoform Dp71ab

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the use of an alternate promoter, and has multiple differences compared to variant 1. These differences result in distinct 5' and 3' UTRs, and a frameshift, compared to variant 1. The encoded isoform (Dp71ab) has distinct N- and C-termini, and is shorter, compared to isoform 1.

Source sequence(s)

AK045257, AK159639, AL645477, BQ558690, CX200477, KJ480731

UniProtKB/TrEMBL

A0A023ZTV5, A0A1Q1PRS9

Related

ENSMUSP00000158938.2, ENSMUST00000239019.2

Conserved Domains (3) summary

COG1196
Location:354 → 524

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd02334
Location:243 → 291

ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...

cd16246
Location:57 → 218

EFh_DMD; EF-hand-like motif found in dystrophin
NM_001314036.1 → NP_001300965.1 dystrophin isoform Dp71

Status: REVIEWED

Description

Transcript Variant: This variant (4) represents the use of an alternate promoter, and has multiple differences compared to variant 1. These differences result in a distinct 5' UTR, and the use of an alternate start codon, compared to variant 1. The encoded isoform (Dp71) has a distinct N-terminus, and is shorter, compared to isoform 1.

Source sequence(s)

AK045257, AK159639, AL645477, BQ558690, CX200477, JN900253

Consensus CDS

CCDS85787.1

UniProtKB/TrEMBL

A0A1Q1PRT9, A2A9Z2

Related

ENSMUSP00000109624.2, ENSMUST00000113991.8

Conserved Domains (3) summary

COG1196
Location:367 → 537

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd02334
Location:243 → 291

ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...

cd16246
Location:57 → 218

EFh_DMD; EF-hand-like motif found in dystrophin
NM_001314037.1 → NP_001300966.1 dystrophin isoform Dp71a

Status: REVIEWED

Description

Transcript Variant: This variant (5) represents the use of an alternate promoter, and has multiple differences compared to variant 1. These differences result in a distinct 5' UTR, and the use of an alternate start codon, compared to variant 1. The encoded isoform (Dp71a) has a distinct N-terminus, and is shorter, compared to isoform 1.

Source sequence(s)

AK045257, AK159639, AL645477, BQ558690, CX200477, KJ480729

Consensus CDS

CCDS85788.1

UniProtKB/TrEMBL

A0A1Q1PRS2, A2A9Z1

Related

ENSMUSP00000109625.3, ENSMUST00000113992.3

Conserved Domains (3) summary

COG1196
Location:354 → 524

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd02334
Location:243 → 291

ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...

cd16246
Location:57 → 218

EFh_DMD; EF-hand-like motif found in dystrophin
NM_001314038.1 → NP_001300967.1 dystrophin isoform Dp40

Status: REVIEWED

Description

Transcript Variant: This variant (6) represents the use of an alternate promoter, and has multiple differences compared to variant 1. These differences result in distinct 5' and 3' UTRs, compared to variant 1. The encoded isoform (Dp40) has a distinct N-terminus and a shorter C-terminus, compared to isoform 1.

Source sequence(s)

AK045257, AK075809, KJ480728

UniProtKB/TrEMBL

Q8BHM1

Related

ENSMUST00000149433.2

Conserved Domains (2) summary

cd02334
Location:243 → 291

ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...

cd16246
Location:57 → 218

EFh_DMD; EF-hand-like motif found in dystrophin
NM_007868.6 → NP_031894.1 dystrophin isoform 1

See identical proteins and their annotated locations for NP_031894.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1), which is the major muscle isoform.

Source sequence(s)

AL645477, AL645848, AL645857, AL672146, AL731776, AL732449, AL806516, AL808024, AL833800, AL844151, BX000479, BX294443, CR352330, CR382328

Consensus CDS

CCDS41047.1

UniProtKB/Swiss-Prot

A2A9Z0, O35653, P11531, Q60703

Related

ENSMUSP00000109633.2, ENSMUST00000114000.8

Conserved Domains (10) summary

COG1340
Location:1706 → 1981

COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]

cd00014
Location:16 → 119

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00176
Location:346 → 560

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd00201
Location:3052 → 3081

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd02334
Location:3304 → 3352

ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...

pfam00435
Location:2927 → 3033

Spectrin; Spectrin repeat

pfam09068
Location:3082 → 3200

EF-hand_2; EF hand

pfam09069
Location:3204 → 3295

EF-hand_3; EF-hand

pfam16769
Location:3481 → 3664

MCM3AP_GANP; MCM3AP domain of GANP

cl02488
Location:562 → 829

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

81858244..84248656

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006527768.4 → XP_006527831.1 dystrophin isoform X2

Conserved Domains (8) summary

COG5069
Location:2 → 224

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00176
Location:338 → 552

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd00201
Location:3044 → 3073

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd02334
Location:3296 → 3344

ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...

TIGR02168
Location:1120 → 1930

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cd16246
Location:3110 → 3271

EFh_DMD; EF-hand-like motif found in dystrophin

pfam00435
Location:2919 → 3024

Spectrin; Spectrin repeat

cl02488
Location:554 → 821

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_017318379.3 → XP_017173868.1 dystrophin isoform X10

Conserved Domains (4) summary

COG5069
Location:12 → 232

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00176
Location:346 → 560

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

TIGR02168
Location:1128 → 1938

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cl02488
Location:562 → 782

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_017318378.2 → XP_017173867.1 dystrophin isoform X9

Conserved Domains (4) summary

COG5069
Location:12 → 232

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00176
Location:346 → 560

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

TIGR02168
Location:1128 → 1938

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cl02488
Location:562 → 782

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_017318377.2 → XP_017173866.1 dystrophin isoform X8

Conserved Domains (8) summary

COG5069
Location:12 → 232

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00176
Location:346 → 560

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd00201
Location:3052 → 3081

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd02334
Location:3304 → 3352

ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...

TIGR02168
Location:1128 → 1938

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cd16246
Location:3118 → 3279

EFh_DMD; EF-hand-like motif found in dystrophin

pfam00435
Location:2927 → 3032

Spectrin; Spectrin repeat

cl02488
Location:562 → 829

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_017318376.2 → XP_017173865.1 dystrophin isoform X7

Conserved Domains (8) summary

COG5069
Location:12 → 232

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00176
Location:346 → 560

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd00201
Location:3052 → 3081

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd02334
Location:3304 → 3352

ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...

TIGR02168
Location:1128 → 1938

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cd16246
Location:3118 → 3279

EFh_DMD; EF-hand-like motif found in dystrophin

pfam00435
Location:2927 → 3032

Spectrin; Spectrin repeat

cl02488
Location:562 → 829

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_036161805.1 → XP_036017698.1 dystrophin isoform X6

Conserved Domains (9) summary

cd00176
Location:346 → 560

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd00201
Location:3052 → 3081

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd02334
Location:3304 → 3352

ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...

TIGR02168
Location:1128 → 1938

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cd16246
Location:3118 → 3279

EFh_DMD; EF-hand-like motif found in dystrophin

pfam00435
Location:2927 → 3033

Spectrin; Spectrin repeat

cd21231
Location:11 → 121

CH_DMD_rpt1; first calponin homology (CH) domain found in dystrophin and similar proteins

cd21233
Location:136 → 246

CH_DMD_rpt2; second calponin homology (CH) domain found in dystrophin and similar proteins

cl02488
Location:562 → 829

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_017318374.2 → XP_017173863.1 dystrophin isoform X4

Conserved Domains (8) summary

COG5069
Location:12 → 232

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00176
Location:346 → 560

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd00201
Location:3052 → 3081

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd02334
Location:3304 → 3352

ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...

TIGR02168
Location:1128 → 1938

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cd16246
Location:3118 → 3279

EFh_DMD; EF-hand-like motif found in dystrophin

pfam00435
Location:2927 → 3032

Spectrin; Spectrin repeat

cl02488
Location:562 → 829

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_017318373.2 → XP_017173862.1 dystrophin isoform X3

Conserved Domains (8) summary

COG5069
Location:12 → 232

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00176
Location:346 → 560

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd00201
Location:3052 → 3081

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd02334
Location:3304 → 3352

ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...

TIGR02168
Location:1128 → 1938

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cd16246
Location:3118 → 3279

EFh_DMD; EF-hand-like motif found in dystrophin

pfam00435
Location:2927 → 3032

Spectrin; Spectrin repeat

cl02488
Location:562 → 829

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_006527767.4 → XP_006527830.1 dystrophin isoform X1

Conserved Domains (8) summary

COG5069
Location:12 → 232

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00176
Location:346 → 560

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd00201
Location:3052 → 3081

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd02334
Location:3304 → 3352

ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...

TIGR02168
Location:1128 → 1938

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cd16246
Location:3118 → 3279

EFh_DMD; EF-hand-like motif found in dystrophin

pfam00435
Location:2927 → 3032

Spectrin; Spectrin repeat

cl02488
Location:562 → 829

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_017318375.2 → XP_017173864.1 dystrophin isoform X5

Conserved Domains (8) summary

COG5069
Location:12 → 232

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00176
Location:302 → 516

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd00201
Location:3008 → 3037

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd02334
Location:3260 → 3308

ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...

TIGR02168
Location:1084 → 1894

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cd16246
Location:3074 → 3235

EFh_DMD; EF-hand-like motif found in dystrophin

pfam00435
Location:2883 → 2988

Spectrin; Spectrin repeat

cl02488
Location:518 → 785

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_030251215.2 → XP_030107075.1 dystrophin isoform X11

Conserved Domains (6) summary

COG1196
Location:975 → 1145

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00176
Location:230 → 473

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd00201
Location:599 → 628

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd02334
Location:851 → 899

ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...

cd16246
Location:665 → 826

EFh_DMD; EF-hand-like motif found in dystrophin

pfam00435
Location:474 → 579

Spectrin; Spectrin repeat
XM_006527773.3 → XP_006527836.1 dystrophin isoform X13

Conserved Domains (5) summary

COG1196
Location:720 → 890

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00176
Location:24 → 218

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd00201
Location:344 → 373

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd02334
Location:596 → 644

ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...

cd16246
Location:410 → 571

EFh_DMD; EF-hand-like motif found in dystrophin
XM_036161806.1 → XP_036017699.1 dystrophin isoform X12

Conserved Domains (6) summary

COG1196
Location:720 → 890

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00176
Location:24 → 218

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd00201
Location:344 → 373

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd02334
Location:596 → 644

ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...

cd16246
Location:410 → 571

EFh_DMD; EF-hand-like motif found in dystrophin

pfam00435
Location:219 → 325

Spectrin; Spectrin repeat