dmd dystrophin [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: dmdprovided by ZNC
Official Full Name: dystrophinprovided by ZNC
Primary source: ZFIN:ZDB-GENE-010426-1
See related: Ensembl:ENSDARG00000008487 AllianceGenome:ZFIN:ZDB-GENE-010426-1
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: Dp71; cb664; zfDYS; im:6911785; zgc:110165
Summary: Predicted to enable actin binding activity and zinc ion binding activity. Acts upstream of or within several processes, including muscle attachment; striated muscle cell development; and swimming behavior. Located in sarcolemma. Is expressed in several structures, including axial mesoderm; axis; chordo neural hinge; musculature system; and somite. Used to study Duchenne muscular dystrophy and muscular dystrophy. Human ortholog(s) of this gene implicated in cognitive disorder; dilated cardiomyopathy (multiple); intellectual disability; and muscular dystrophy (multiple). Orthologous to human DMD (dystrophin). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 1

Exon count:: 81

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	1	NC_007112.7 (10824351..11075405, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	1	NC_007112.6 (10140240..10391294, complement)

Chromosome 1 - NC_007112.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Effect of serotonin modulation on dystrophin-deficient zebrafish.
Title: Effect of serotonin modulation on dystrophin-deficient zebrafish.
Forced expression of embryonic dystrophin in zebrafish using an exon-skipping approach severely impairs the mobility and muscle architecture.
Title: Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy.
Spatio-temporal differences in dystrophin dynamics at mRNA and protein levels have been revealed using a novel reporter system.
Title: Spatio-Temporal Differences in Dystrophin Dynamics at mRNA and Protein Levels Revealed by a Novel FlipTrap Line.
Data indicate that ataluren (0.1-1 muM, 3-5 dpf) improved contractile function (~60% improvement of force at 0.5 muM) and dystrophin expression.
Title: Muscle dysfunction and structural defects of dystrophin-null sapje mutant zebrafish larvae are rescued by ataluren treatment.
Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology.
Title: Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology.
early expression of the short carboxyl-terminal dystrophin transcript, with expression of the full length muscle transcript occurring during myogenesis.
Title: Zebrafish dystrophin and utrophin genes: dissecting transcriptional expression during embryonic development.
Data suggest that dystrophin functions in regulation of calcium signaling during early stages of slow muscle cell differentiation; calcium signaling in these cells coincide with first spontaneous contractions of embryonic trunk.
Title: Application of complementary luminescent and fluorescent imaging techniques to visualize nuclear and cytoplasmic Ca²⁺ signalling during the in vivo differentiation of slow muscle cells in zebrafish embryos under normal and dystrophic conditions.
Sequence analysis of sapje-like genomic DNA identified a mutation in the donor splice junction at the end of dystrophin exon 62.
Title: Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin.
reduction of dystrophin, dystroglycan and sarcoglycan at translational level in embryos with overexpressed myostatin2
Title: Overexpression of Myostatin2 in zebrafish reduces the expression of dystrophin associated protein complex (DAPC) which leads to muscle dystrophy.
Dystrophin family gene expression in zebrafish is reported.
Title: Dystrobrevin and dystrophin family gene expression in zebrafish.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

fc33b12.x1 (e-PCR)
- UniSTS:193570

fl23b04.x1 (e-PCR)
- UniSTS:202072

fl03h06.x1 (e-PCR)
- UniSTS:201878

G47235 (e-PCR)
- UniSTS:108018

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within muscle attachment	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within muscle attachment	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 contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle organ development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron development	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of muscle system process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle fiber development	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	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within somatic muscle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within somite development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within striated muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within swimming behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic signaling	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
part_of dystrophin-associated glycoprotein complex	NAS Non-traceable Author Statement more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane bounded cell projection	IEA Inferred from Electronic Annotation more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation 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 synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dystrophin

Names: Duchenne muscular dystrophy; sap; sapje; sapje-like

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_001326687.1 → NP_001313616.1 dystrophin isoform 1

Status: PROVISIONAL

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

BX004756, BX323020, BX323090

UniProtKB/TrEMBL

A0A0R4IXX0, A0A8M1P3J4

Related

ENSDARP00000139822.2, ENSDART00000170290.2

Conserved Domains (8) summary

smart00150
Location:1486 → 1586

SPEC; Spectrin repeats

cd00014
Location:152 → 257

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:359 → 577

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:2973 → 2995

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:3218 → 3266

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 ...

pfam09068
Location:2997 → 3114

EF-hand_2; EF hand

pfam09069
Location:3118 → 3209

EF-hand_3; EF-hand

cl02488
Location:1823 → 1973

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; ...
NM_131785.2 → NP_571860.2 dystrophin isoform 2

Status: PROVISIONAL

Description

Transcript Variant: This variant (2) encodes isoform 2.

Source sequence(s)

BX323090

UniProtKB/TrEMBL

A0A8M1P935, F1QDK4

Related

ENSDARP00000003044.7, ENSDART00000009886.9

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

NC_007112.7 Reference GRCz11 Primary Assembly

Range

10824351..11075405 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017355864.3 → XP_017211353.2 dystrophin isoform X5

UniProtKB/TrEMBL

A0A8M6YYV3

Conserved Domains (7) summary

COG5069
Location:29 → 254

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

cd00176
Location:359 → 577

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:2973 → 2995

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:3218 → 3266

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:3032 → 3193

EFh_DMD; EF-hand-like motif found in dystrophin

cl02488
Location:1823 → 1973

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; ...

cl25732
Location:1144 → 1760

SMC_N; RecF/RecN/SMC N terminal domain
XM_021475866.2 → XP_021331541.1 dystrophin isoform X2

UniProtKB/TrEMBL

A0A8M9Q7T4

Conserved Domains (7) summary

COG5069
Location:29 → 254

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

cd00176
Location:359 → 577

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:2973 → 2995

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:3218 → 3266

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:3032 → 3193

EFh_DMD; EF-hand-like motif found in dystrophin

cl02488
Location:1823 → 1973

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; ...

cl25732
Location:1144 → 1760

SMC_N; RecF/RecN/SMC N terminal domain
XM_021475868.2 → XP_021331543.1 dystrophin isoform X6

UniProtKB/TrEMBL

A0A8M9PWR0

Conserved Domains (7) summary

COG5069
Location:29 → 254

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

cd00176
Location:359 → 577

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:2973 → 2995

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:3218 → 3266

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:3032 → 3193

EFh_DMD; EF-hand-like motif found in dystrophin

cl02488
Location:1823 → 1973

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; ...

cl25732
Location:1144 → 1760

SMC_N; RecF/RecN/SMC N terminal domain
XM_021475865.2 → XP_021331540.1 dystrophin isoform X1

UniProtKB/TrEMBL

A0A8M9QD77

Related

ENSDARP00000093677.4, ENSDART00000102903.6

Conserved Domains (7) summary

COG5069
Location:29 → 254

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

cd00176
Location:359 → 577

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:2973 → 2995

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:3218 → 3266

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:3032 → 3193

EFh_DMD; EF-hand-like motif found in dystrophin

cl02488
Location:1823 → 1973

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; ...

cl25732
Location:1144 → 1760

SMC_N; RecF/RecN/SMC N terminal domain
XM_017355863.3 → XP_017211352.2 dystrophin isoform X4

UniProtKB/TrEMBL

A0A8M6Z645

Conserved Domains (7) summary

COG5069
Location:29 → 254

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

cd00176
Location:359 → 577

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:2973 → 2995

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:3218 → 3266

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:3032 → 3193

EFh_DMD; EF-hand-like motif found in dystrophin

cl02488
Location:1823 → 1973

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; ...

cl25732
Location:1144 → 1760

SMC_N; RecF/RecN/SMC N terminal domain
XM_021475867.2 → XP_021331542.1 dystrophin isoform X3

UniProtKB/TrEMBL

A0A8M9PJA8

Conserved Domains (7) summary

COG5069
Location:29 → 254

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

cd00176
Location:359 → 577

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:2973 → 2995

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:3218 → 3266

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:3032 → 3193

EFh_DMD; EF-hand-like motif found in dystrophin

cl02488
Location:1823 → 1973

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; ...

cl25732
Location:1144 → 1760

SMC_N; RecF/RecN/SMC N terminal domain
XM_021475869.2 → XP_021331544.1 dystrophin isoform X7

UniProtKB/TrEMBL

A0A8M9Q2H9

Conserved Domains (7) summary

cd00176
Location:219 → 437

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:2833 → 2855

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:3078 → 3126

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 ...

pfam00307
Location:13 → 117

CH; Calponin homology (CH) domain

cd16246
Location:2892 → 3053

EFh_DMD; EF-hand-like motif found in dystrophin

cl02488
Location:1683 → 1833

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; ...

cl25732
Location:1004 → 1620

SMC_N; RecF/RecN/SMC N terminal domain
XM_009306076.4 → XP_009304351.1 dystrophin isoform X8

UniProtKB/TrEMBL

A0A8M3B442

Conserved Domains (4) summary

cl14654
Location:420 → 604

V_Alix_like; Protein-interacting V-domain of mammalian Alix and related domains

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 ...

pfam09068
Location:22 → 139

EF-hand_2; EF hand

pfam09069
Location:143 → 234

EF-hand_3; EF-hand
XM_068220874.1 → XP_068076975.1 dystrophin isoform X9