Dst - dystonin Gene

Mus musculus

Also known as ah; dt; Bpag; BP230; Bpag1; Macf2; nmf203; nmf339; BPAG1-n; athetoid; mKIAA0728; 2310001O04Rik; A830042E19Rik

Gene ID: 13518 | Gene type: protein coding

About Dst

Summary

Enables microtubule binding activity and protein homodimerization activity. Involved in Cytoskeleton organization and intracellular transport. Acts upstream of or within several processes, including cytoplasmic microtubule organization; regulation of microtubule polymerization or depolymerization; and retrograde axonal transport. Located in several cellular components, including cytoskeleton; endoplasmic reticulum; and sarcomere. Is active in type III intermediate filament. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and retina nuclear layer. Used to study hereditary sensory and autonomic neuropathy type 6 and hereditary sensory neuropathy. Human ortholog(s) of this gene implicated in hereditary sensory and autonomic neuropathy type 6. Orthologous to human DST (dystonin). [provided by Alliance of Genome Resources, Apr 2022]

Dst Products(4)

mRNA	Protein	Name
NM_001276764.1	NP_001263693.1	dystonin isoform 1
NM_010081.3	NP_034211.2	dystonin isoform 4
NM_133833.4	NP_598594.2	dystonin isoform 3
NM_134448.4	NP_604443.2	dystonin isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9971739	MGI
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	14576348	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within axonogenesis	IMP IMP: Inferred from mutant phenotype	1634998	MGI
involved in cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	19932097	MGI
involved in intracellular transport	IDA IDA: Inferred from direct assay	14576348	MGI
acts upstream of or within retrograde axonal transport	IMP IMP: Inferred from mutant phenotype	14581450	MGI
involved in retrograde axonal transport	IMP IMP: Inferred from mutant phenotype	17287360	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in H zone	IDA IDA: Inferred from direct assay	20209123	MGI
is active in Z disc	IDA IDA: Inferred from direct assay	19932097	MGI
located in Z disc	IDA IDA: Inferred from direct assay	19932097	MGI
located in actin cytoskeleton	IDA IDA: Inferred from direct assay	14576348	MGI
located in axon	IDA IDA: Inferred from direct assay	17287360	MGI
located in cytoplasm	IDA IDA: Inferred from direct assay	19932097	MGI
located in cytoplasmic side of plasma membrane	IDA IDA: Inferred from direct assay	16289082	MGI
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	18638474	MGI
located in focal adhesion	IDA IDA: Inferred from direct assay	14576348	MGI
located in hemidesmosome	IDA IDA: Inferred from direct assay	7736575	MGI
located in intercalated disc	IDA IDA: Inferred from direct assay	19932097	MGI
is active in intermediate filament	IDA IDA: Inferred from direct assay	19932097	MGI
located in membrane	IDA IDA: Inferred from direct assay	16289082	MGI
located in microtubule cytoskeleton	IDA IDA: Inferred from direct assay	16289082	MGI
located in nuclear envelope	IDA IDA: Inferred from direct assay	18638474	MGI
located in nucleus	IDA IDA: Inferred from direct assay	14576348	MGI
located in perinuclear endoplasmic reticulum	IDA IDA: Inferred from direct assay	16289082	MGI
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	16289082	MGI
located in postsynaptic density	IDA IDA: Inferred from direct assay	17114649	MGI
located in sarcolemma	IDA IDA: Inferred from direct assay	20209123	MGI
located in stress fiber	IDA IDA: Inferred from direct assay	14576348	MGI
is active in type III intermediate filament	IDA IDA: Inferred from direct assay	19932097	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

dystonin

BPA	dystonia musculorum protein
hemidesmosomal plaque protein	microtubule actin cross-linking factor 2

Dst Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Cross	Dst	Q91ZU6	Prph	Rattus norvegicus	P21807	Far-WB	9971739
Cross	Dst	Q91ZU6	Prph	Rattus norvegicus	P21807	Y2H	9971739

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04028	DST Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS18446	Dst Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS24928	Dst Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Dst	NCBI	NCBI:667

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