2. Gene
  3. DST - dystonin Gene

DST - dystonin Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：肌张力障碍素

种属: Homo sapiens

同用名: DT; BPA; DMH; EBS3; BP240; BPAG1; EBSB2; HSAN6; MACF2; CATX15; CATX-15; D6S1101

基因 ID: 667 | 基因类型: protein coding

关于 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.

功能概要

该基因编码粘附连接斑块蛋白的斑块蛋白家族成员。已经为该基因发现了编码不同亚型的多个可变剪接转录物变体，但尚未定义某些变体的全长性质。据报道，一些亚型在神经和肌肉组织中表达，将神经中间丝锚定到肌动蛋白细胞骨架，一些亚型在上皮组织中表达，将含有角蛋白的中间丝锚定到半桥粒。与表达一致，该基因缺陷的小鼠表现出皮肤起泡和神经变性。[RefSeq 提供，2010 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables integrin binding IPI
IPI: 通过物理相互作用推断
11375975 GOA
enables microtubule plus-end binding IDA
IDA: 通过直接分析推断
19632184 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11375975 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
19932097 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell motility IMP
IMP: 通过突变表型推断
19403692 GOA
involved in cytoskeleton organization IMP
IMP: 通过突变表型推断
19403692 GOA
involved in hemidesmosome assembly IDA
IDA: 通过直接分析推断
12482924 GOA
involved in intermediate filament cytoskeleton organization IEP
IEP: 通过表达模式推断
11751855 GOA
involved in maintenance of cell polarity IMP
IMP: 通过突变表型推断
19403692 GOA
involved in microtubule cytoskeleton organization IDA
IDA: 通过直接分析推断
10428034 GOA
involved in response to wounding IDA
IDA: 通过直接分析推断
19403692 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Z disc IDA
IDA: 通过直接分析推断
19932097 GOA
NOT located in actin cytoskeleton IDA
IDA: 通过直接分析推断
10428034 GOA
located in actin cytoskeleton IDA
IDA: 通过直接分析推断
10428034 GOA
located in axon IDA
IDA: 通过直接分析推断
10428034 GOA
located in cell leading edge IDA
IDA: 通过直接分析推断
19403692 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
11751855 GOA
located in cytoplasmic vesicle IDA
IDA: 通过直接分析推断
14581450 GOA
located in hemidesmosome IDA
IDA: 通过直接分析推断
12482924 GOA
located in intermediate filament cytoskeleton IDA
IDA: 通过直接分析推断
10428034 GOA
located in microtubule cytoskeleton IDA
IDA: 通过直接分析推断
10428034 GOA
located in microtubule plus-end IDA
IDA: 通过直接分析推断
19632184 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

DST 蛋白结构

Spectrin

Spectrin: Spectrin repeat (375 - 472)

Spectrin

Spectrin: Spectrin repeat (1512 - 1588)

Spectrin

Spectrin: Spectrin repeat (1658 - 1741)

Spectrin

Spectrin: Spectrin repeat (2102 - 2210)

Spectrin

Spectrin: Spectrin repeat (2214 - 2319)

Spectrin

Spectrin: Spectrin repeat (2437 - 2540)

Spectrin

Spectrin: Spectrin repeat (2869 - 2977)

Spectrin

Spectrin: Spectrin repeat (2984 - 3085)

Spectrin

Spectrin: Spectrin repeat (3091 - 3194)

Spectrin

Spectrin: Spectrin repeat (3417 - 3521)

Spectrin

Spectrin: Spectrin repeat (3528 - 3630)

Spectrin

Spectrin: Spectrin repeat (3636 - 3742)

Spectrin

Spectrin: Spectrin repeat (3773 - 3852)

Spectrin

Spectrin: Spectrin repeat (3858 - 3961)

Spectrin

Spectrin: Spectrin repeat (3967 - 4069)

Spectrin

Spectrin: Spectrin repeat (4079 - 4180)

Spectrin

Spectrin: Spectrin repeat (4185 - 4288)

Spectrin

Spectrin: Spectrin repeat (4293 - 4399)

Spectrin

Spectrin: Spectrin repeat (4406 - 4506)

Spectrin

Spectrin: Spectrin repeat (4511 - 4614)

EF-hand_7

EF-hand_7: EF-hand domain pair (4790 - 4849)

GAS2

GAS2: Growth-Arrest-Specific Protein 2 Domain (4864 - 4941)

  • 0
  • 800
  • 1600
  • 2400
  • 3200
  • 4000
  • 4800
  • 5171 a.a.
蛋白主名 其他名称

dystonin

bullous pemphigoid antigen

DST 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
DST Q03001 MAPRE1 Homo sapiens Q15691
X-Ray Diffraction
19632184
种属间
DST Q03001 Mapre1 Mus musculus Q61166
Anti Tag CoIP
22995871
种属间
DST Q03001 Mapre1 Mus musculus Q61166
Pull Down
22995871
种属内
DST Q03001 APPL1 Homo sapiens Q9UKG1
PLA
23414517
种属内
DST Q03001 APPL1 Homo sapiens Q9UKG1
Y2H Fragment Pooling
23414517
种属间
DST Q03001 P29991-PRO_0000037946 Dengue virus type 2 P29991-PRO_0000037946
Y2H
21911577
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 DST 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71840 DST Protein, Human (P.pastoris, His) Q03001 (M1-G195) ≥95%

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04028 DST Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-174709 Human FGF12 mRNA / 否
HY-RS18446 Dst Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS24928 Dst Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z