DST - dystonin Gene

Also Known as DT; BPA; DMH; EBS3; BP240; BPAG1; EBSB2; HSAN6; MACF2; CATX15; CATX-15; D6S1101

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 667

About DST

Cytogenetic location: 6p12.1 Genomic coordinates (GRCh38): 6:56,457,996-56,954,830 (from NCBI)

This gene has 41 transcripts (splice variants), 235 orthologues, 36 paralogues and is associated with 5 phenotypes. Ubiquitous expression in skin (RPKM 22.2), brain (RPKM 12.5) and 23 other tissues.

Summary

This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin Cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010]

DST Products (11)

mRNA	Protein	Name
NM_001144769.5	NP_001138241.1	dystonin isoform 2
NM_001144770.2	NP_001138242.1	dystonin isoform 3
NM_001374722.1	NP_001361651.1	dystonin isoform 6
NM_001374729.1	NP_001361658.1	dystonin isoform 7
NM_001374730.1	NP_001361659.1	dystonin isoform 8
NM_001374734.1	NP_001361663.1	dystonin isoform 5
NM_001374736.1	NP_001361665.1	dystonin isoform 4
NM_001386100.1	NP_001373029.1	dystonin isoform 9
NM_001723.7	NP_001714.1	dystonin isoform 1e precursor
NM_015548.5	NP_056363.2	dystonin isoform 1eA precursor
NM_183380.4	NP_899236.1	dystonin isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables integrin binding	IPI IPI: Inferred from physical interaction	11375975	GOA
enables microtubule plus-end binding	IDA IDA: Inferred from direct assay	19632184	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11375975	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	19932097	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cell motility	IMP IMP: Inferred from mutant phenotype	19403692	GOA
involved in cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	19403692	GOA
involved in hemidesmosome assembly	IDA IDA: Inferred from direct assay	12482924	GOA
involved in intermediate filament cytoskeleton organization	IEP IEP: Inferred from expression pattern	11751855	GOA
involved in maintenance of cell polarity	IMP IMP: Inferred from mutant phenotype	19403692	GOA
involved in microtubule cytoskeleton organization	IDA IDA: Inferred from direct assay	10428034	GOA
involved in response to wounding	IDA IDA: Inferred from direct assay	19403692	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Z disc	IDA IDA: Inferred from direct assay	19932097	GOA
NOT located in actin cytoskeleton	IDA IDA: Inferred from direct assay	10428034	GOA
located in actin cytoskeleton	IDA IDA: Inferred from direct assay	10428034	GOA
located in axon	IDA IDA: Inferred from direct assay	10428034	GOA
located in cell leading edge	IDA IDA: Inferred from direct assay	19403692	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	11751855	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	14581450	GOA
located in hemidesmosome	IDA IDA: Inferred from direct assay	12482924	GOA
located in intermediate filament cytoskeleton	IDA IDA: Inferred from direct assay	10428034	GOA
located in microtubule cytoskeleton	IDA IDA: Inferred from direct assay	10428034	GOA
located in microtubule plus-end	IDA IDA: Inferred from direct assay	19632184	GOA

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

DST Protein Structure

Spectrin

EF-hand_7

GAS2

0
800
1600
2400
3200
4000
4800
5171 a.a.

Protein Preferred Names	Protein Names
dystonin	bullous pemphigoid antigen

DST Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DST	Q03001	MAPRE1	Homo sapiens	Q15691	X-Ray Diffraction	19632184
Cross	DST	Q03001	Mapre1	Mus musculus	Q61166	Anti Tag CoIP	22995871
Cross	DST	Q03001	Mapre1	Mus musculus	Q61166	Pull Down	22995871
Intra	DST	Q03001	APPL1	Homo sapiens	Q9UKG1	PLA	23414517
Intra	DST	Q03001	APPL1	Homo sapiens	Q9UKG1	Y2H Fragment Pooling	23414517
Cross	DST	Q03001	P29991-PRO_0000037946	Dengue virus type 2	P29991-PRO_0000037946	Y2H	21911577

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant DST Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71840	DST Protein, Human (P.pastoris, His)	Q03001-3 (M1-G195)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Epidermolysis Bullosa Simplex 3, Localized Or Generalized Intermediate, With Bp230 Deficiency	EBS3 Epidermolysis Bullosa Simplex, Autosomal Recessive 2 Epidermolysis Bullosa Simplex Due To Bp230 Deficiency Dst-Related Epidermolysis Bullosa Simplex Ebs Due To Bp230 Deficiency Ebsb2 Epidermolysis Bullosa Simplex, Autosomal Recessive, Type 2
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Hereditary Sensory And Autonomic Neuropathy Type 6 HSAN6 Hsan Vi Hereditary Sensory And Autonomic Neuropathy Type Vi Familial Dysautonomia With Contractures Neuropathy, Hereditary Sensory And Autonomic, 6 Hereditary Sensory Neuropathy Type Vi Hsn Vi Neuropathy, Sensory And Autonomic, Hereditary, Type Vi
Bullous Pemphigoid	Benign Pemphigus Senile Dermatitis Herpetiformis Old Age Pemphigus Parapemphigus Pemphigoid Pemphigoid Bullous Pemphigoid, Bullous
Pemphigoid
Bullous Skin Disease	Skin Diseases Bullous Skin Diseases, Bullous
Pemphigoid Gestationis	Herpes Gestationis Gestational Pemphigoid Gestational Herpes
Cicatricial Pemphigoid	Mucous Membrane Pemphigoid Ocular Pemphigoid Benign Mucous Membrane Pemphigoid Benign Mucous Membrane Pemphigoid With Ocular Involvement Benign Mucosal Pemphigoid Pemphigoid, Benign Mucous Membrane Cicatricial Pemphigoid With Ocular Involvement Ocular Pemphigus Cicatricial Pemphigoid Disease Mucosal Pemphigoid Mucosynechial Pemphigoid Pemphigoid Cicatricial Cicatricial Pemphigoid Involving The Eye Ocular Cicatricial Pemphigoid
Epidermolysis Bullosa Simplex	Ebs Epidermolysis Bullosa Intraepidermic Epidermolytic Epidermolysis Bullosa
Lichen Planus	Lichen Ruber Planus Lichen, Ruber Planus Ruber Planus Lp - [Lichen Planus] Lichen Planus Of Wilson Wilson Lichen Ruber
Epidermolysis Bullosa	Acantholysis Bullosa Eb
Pemphigus Foliaceus	Pemphigus Foliaceous Pf Superficial Pemphigus
Junctional Epidermolysis Bullosa	Epidermolysis Bullosa, Junctional Jeb Epidermolysis Bullosa Atrophicans Congenital Junctional Epidermolysis Bullosa Epidermolysis Bullosa Junctional Junctional Eb - [Epidermolysis Bullosa] Jeb - [Junctional Epidermolysis Bullosa] Lucidolytic Epidermolysis Bullosa
Pemphigus
Epidermolysis Bullosa, Junctional 4, Intermediate	Gabeb JEB4 Epidermolysis Bullosa, Junctional 4, Non-Herlitz Type Epidermolysis Bullosa, Generalized Atrophic Benign Epidermolysis Bullosa, Junctional, Localisata Variant
Epidermolysis Bullosa Acquisita	Acquired Epidermolysis Bullosa Eb Acquisita Eba Eba - [Epidermolysis Bullosa Acquisita]
Autonomic Neuropathy	Diabetic Autonomic Neuropathy
Pemphigus Vulgaris, Familial	Pemphigus Vulgaris Familial Pemphigus Vulgaris Pemphigus
Pemphigus Gestationis
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Kindler Syndrome	Poikiloderma Of Kindler Bullous Acrokeratotic Poikiloderma Of Kindler And Weary Congenital Bullous Poikiloderma KNDLRS Poikiloderma, Hereditary Acrokeratotic Poikiloderma, Congenital, With Bullae, Weary Type Kindler'S Syndrome Poikiloderma Congenital With Bullae Weary Type Hereditary Acrokeratotic Poikiloderma Of Kindler-Weary Hereditary Acrokeratotic Poikiloderma Weary Syndrome Poikiloderma Hereditary Acrokeratotic Potassium Deficiency
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Paraneoplastic Pemphigus
Iga Pemphigus
Acute Laryngopharyngitis	Pharyngolaryngitis Laryngopharyngitis Hypopharyngitis
Basal Cell Carcinoma	Basal Cell Cancer Basal Cell Neoplasm Basal Cell Carcinoma Of Skin Malignant Basal Cell Tumor Basal Cell Tumor Epithelioma Basal Cell Malignant Basal Cell Neoplasm Rodent Ulcer Carcinoma Basal Cell Neoplasms, Basal Cell Basal Cell Carcinomas Experimental Organism Basal Cell Carcinoma Nodulo-Ulcerative Basal Cell Carcinoma Basalioma Basal Cell Epithelioma Of Skin Bcc - [Basal Cell Carcinoma] Of Skin Rodent Ulcer Of Skin Rodent Ulcer Of Unspecified Site Basal Cell Epithelioma Of Unspecified Site
Epidermolysis Bullosa Simplex 5b, With Muscular Dystrophy	Epidermolysis Bullosa Simplex With Muscular Dystrophy Md-Ebs Epidermolysis Bullosa Simplex And Limb-Girdle Muscular Dystrophy EBS5B Ebsmd Mdebs Limb-Girdle Muscular Dystrophy With Epidermolysis Bullosa Simplex Ebs-Md Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy Epidermolysa Bullosa Simplex With Muscular Dystrophy Epidermolysis Bullosa Simplex - Limb Girdle Muscular Dystrophy Ebs With Muscular Dystrophy Muscular Dystrophy With Epidermolysis Bullosa Simplex Epidermolysa Bullosa Simplex, With Muscular Dystrophy
Lichen Disease
Junctional Epidermolysis Bullosa Non-Herlitz Type	Junctional Epidermolysis Bullosa, Non-Herlitz Type Gabeb Generalized Atrophic Benign Epidermolysis Bullosa Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type Jeb-Nh Gen Jen-Nh Junctional Epidermolysis Bullosa Generalisata Mitis Junctional Epidermolysis Bullosa, Disentis Type Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Autoimmune Disease Of Skin And Connective Tissue
Pseudomembranous Conjunctivitis
Keratosis	Actinic Keratosis Hyperkeratosis
Neurotic Excoriation	Factitious Skin Disease Dermatitis Artefacta Dermatitis Factitia Dermatitis Ficta
Subcorneal Pustular Dermatosis	Subcorneal Pustular Dermatitis Sneddon-Wilkinson Disease Or Syndrome Pustulosis Subcornealis Sneddon-Wilkinson Disease Skin Diseases, Vesiculobullous Vesiculobullous Skin Disease
Entropion
Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia	Junctional Epidermolysis Bullosa With Pyloric Atresia Carmi Syndrome Epidermolysis Bullosa, Junctional, With Pyloric Atresia Jeb-Pa JEB5B Epidermolysis Bullosa Junctionalis With Pyloric Atresia Aplasia Cutis Congenita With Gastrointestinal Atresia Epidermolysis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita Eb-Pa-Acc Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome Jeb With Pyloric Atresia Epidermolysis Bullosa Letalis, With Pyloric Atresia Pa-Jeb Epidermolysis Bullosa With Pyloric Atresia
Lipoid Proteinosis Of Urbach And Wiethe	Lipoid Proteinosis Urbach-Wiethe Disease Hyalinosis Cutis Et Mucosae Lipid Proteinosis Lipoproteinosis Urbach Wiethe Disease Lipoglycoproteinosis Lipoidosis Cutis Et Mucosae Lipoidproteinosis Urbach-Wiethe Lipoid Proteinosis Urbach-Wiethe Syndrome LIP Proteinosis Lipoid
Axonal Neuropathy
Pompholyx	Dyshidrosis Vesicular Eczema Of Hands And/Or Feet Cheiropompholyx Dyshydrotic Eczema Eczema, Dyshidrotic Vesicular Hand Eczema
Epidermolysis Bullosa Dystrophica	Dystrophic Epidermolysis Bullosa Deb Dermolytic Epidermolysis Bullosa Epidermolysis Bullosa, Dermolytic Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa Dystrophic Dystrophic Eb - [Epidermolysis Bullosa]
Scabies	Sarcoptic Itch Infestation By Sarcoptes Scabiei Infestation By Sarcoptes Scabiei Var Hominis Infestation By Sarcoptes Scabiei Var. Hominis
Recessive Dystrophic Epidermolysis Bullosa	Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type Rdeb, Hallopeau-Siemens Type Severe Generalized Rdeb Severe Generalized Recessive Dystrophic Epidermolysis Bullosa Rdeb Generalisata Gravis Rdeb, Severe Generalized Rdeb-Sev Gen Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized Hallopeau-Siemens Disease
Mite Infestation	Mite Infestations Acariasis Infestation By Mites Nos
Transient Bullous Dermolysis Of The Newborn	TBDN Transient Bullous Of The Newborn Epidermolysis Bullosa Dystrophica, Neonatal Form Dystrophic Epidermolysis Bullosa, Neonatal Deb, Bullous Dermolysis Of The Newborn Deb-Bdn Epidermolysis Bullosa Dystrophica, Dominant Neonatal Form Self-Improving Dystrophic Epidermolysis Bullosa Self-Improving Deb Epidermolysis Bullosa Dystrophica Dominant Neonatal Type
Hereditary Sensory Neuropathy	Hereditary Sensory And Autonomic Neuropathy Hereditary Sensory And Autonomic Neuropathies Familial Dysautonomia, Type Ii Hsan Sensory Neuropathy Hereditary Neuropathy, Sensory And Autonomic, Hereditary Neuropathy, Sensory, Hereditary Sensory Neuropathy, Hereditary Charcot-Marie-Tooth Disease Cmt - [Charcot-Marie-Tooth Disease]
Integumentary System Disease
Autoimmune Disease Of Musculoskeletal System

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04028	DST Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174709	Human FGF12 mRNA		/	Unkown
HY-RS18446	Dst Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24928	Dst Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DST	MGD	MGI:104627
Felis catus	DST	VGNC	VGNC:102415
Canis familiaris	DST	VGNC	VGNC:57222
Macaca mulatta	DST	VGNC	VGNC:81061
Rattus norvegicus	DST	RGD	RGD:1306566
Others	DST	NCBI