1. Gene
  2. MBNL1 - muscleblind like splicing regulator 1 Gene

MBNL1 - muscleblind like splicing regulator 1 Gene

中文名称:肌盲样剪接调节器 1

种属: Homo sapiens

同用名: EXP; MBNL

基因 ID: 4154 | 基因类型: protein coding

关于 MBNL1

Cytogenetic location: 3q25.1-q25.2 Genomic coordinates (GRCh38): 3:152,243,632-152,465,780 (from NCBI)

This gene has 24 transcripts (splice variants), 272 orthologues and 3 paralogues. Ubiquitous expression in lymph node (RPKM 38.9), appendix (RPKM 34.6) and 24 other tissues.

功能概要

该基因编码最初在黑腹果蝇中描述的肌盲蛋白家族成员。编码的蛋白质是一种 C3H 型锌指蛋白,可调节 pre-mRNA 的选择性剪接。 Muscleblind 蛋白特异性结合扩增的 dsCUG RNA,但不结合正常大小的 CUG 重复序列,因此可能在强直性肌营养不良的病理生理学中发挥作用。缺乏该基因的小鼠表现出肌肉异常和白内障。已经描述了几种选择性剪接的转录本变体,但只有一些的全长性质已经确定。不同的亚型被认为具有不同的结合特异性和/或剪接活性。[RefSeq 提供,2015 年 9 月]

This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015]

MBNL1 基因产物(97)

mRNA Protein Name
NM_001314057.2 NP_001300986.1 muscleblind-like protein 1 isoform 8
NM_001363870.1 NP_001350799.1 muscleblind-like protein 1 isoform 9
NM_001376818.1 NP_001363747.1 muscleblind-like protein 1 isoform 10
NM_001376819.1 NP_001363748.1 muscleblind-like protein 1 isoform 10
NM_001376820.1 NP_001363749.1 muscleblind-like protein 1 isoform 11
NM_001376821.1 NP_001363750.1 muscleblind-like protein 1 isoform 11
NM_001376822.1 NP_001363751.1 muscleblind-like protein 1 isoform 11
NM_001376823.1 NP_001363752.1 muscleblind-like protein 1 isoform 11
NM_001376824.1 NP_001363753.1 muscleblind-like protein 1 isoform 3
NM_001376825.1 NP_001363754.1 muscleblind-like protein 1 isoform 3
NM_001376826.1 NP_001363755.1 muscleblind-like protein 1 isoform 1
NM_001376827.1 NP_001363756.1 muscleblind-like protein 1 isoform 1
NM_001376828.1 NP_001363757.1 muscleblind-like protein 1 isoform 1
NM_001376829.1 NP_001363758.1 muscleblind-like protein 1 isoform 1
NM_001376830.1 NP_001363759.1 muscleblind-like protein 1 isoform 2
NM_001376831.1 NP_001363760.1 muscleblind-like protein 1 isoform 2
NM_001376832.1 NP_001363761.1 muscleblind-like protein 1 isoform 12
NM_001376833.1 NP_001363762.1 muscleblind-like protein 1 isoform 9
NM_001376834.1 NP_001363763.1 muscleblind-like protein 1 isoform 7
NM_001376835.1 NP_001363764.1 muscleblind-like protein 1 isoform 13
NM_001376836.1 NP_001363765.1 muscleblind-like protein 1 isoform 13
NM_001376837.1 NP_001363766.1 muscleblind-like protein 1 isoform 14
NM_001376838.1 NP_001363767.1 muscleblind-like protein 1 isoform 15
NM_001376839.1 NP_001363768.1 muscleblind-like protein 1 isoform 16
NM_001376840.1 NP_001363769.1 muscleblind-like protein 1 isoform 17
NM_001376841.1 NP_001363770.1 muscleblind-like protein 1 isoform 17
NM_001376842.1 NP_001363771.1 muscleblind-like protein 1 isoform 17
NM_001376843.1 NP_001363772.1 muscleblind-like protein 1 isoform 17
NM_001376844.1 NP_001363773.1 muscleblind-like protein 1 isoform 18
NM_001376845.1 NP_001363774.1 muscleblind-like protein 1 isoform 18
NM_001376846.1 NP_001363775.1 muscleblind-like protein 1 isoform 18
NM_001376847.1 NP_001363776.1 muscleblind-like protein 1 isoform 19
NM_001376848.1 NP_001363777.1 muscleblind-like protein 1 isoform 20
NM_001376849.1 NP_001363778.1 muscleblind-like protein 1 isoform 21
NM_001376851.1 NP_001363780.1 muscleblind-like protein 1 isoform 21
NM_001376853.1 NP_001363782.1 muscleblind-like protein 1 isoform 22
NM_001387781.1 NP_001374710.1 muscleblind-like protein 1 isoform 23
NM_001387782.1 NP_001374711.1 muscleblind-like protein 1 isoform 23
NM_001387783.1 NP_001374712.1 muscleblind-like protein 1 isoform 23
NM_001387784.1 NP_001374713.1 muscleblind-like protein 1 isoform 24
NM_001387785.1 NP_001374714.1 muscleblind-like protein 1 isoform 11
NM_001387786.1 NP_001374715.1 muscleblind-like protein 1 isoform 1
NM_001387787.1 NP_001374716.1 muscleblind-like protein 1 isoform 12
NM_001387788.1 NP_001374717.1 muscleblind-like protein 1 isoform 25
NM_001387789.1 NP_001374718.1 muscleblind-like protein 1 isoform 25
NM_001387790.1 NP_001374719.1 muscleblind-like protein 1 isoform 25
NM_001387791.1 NP_001374720.1 muscleblind-like protein 1 isoform 26
NM_001387792.1 NP_001374721.1 muscleblind-like protein 1 isoform 7
NM_001387793.1 NP_001374722.1 muscleblind-like protein 1 isoform 7
NM_001387794.1 NP_001374723.1 muscleblind-like protein 1 isoform 27
NM_001387795.1 NP_001374724.1 muscleblind-like protein 1 isoform 27
NM_001387796.1 NP_001374725.1 muscleblind-like protein 1 isoform 13
NM_001387797.1 NP_001374726.1 muscleblind-like protein 1 isoform 14
NM_001387798.1 NP_001374727.1 muscleblind-like protein 1 isoform 14
NM_001387799.1 NP_001374728.1 muscleblind-like protein 1 isoform 29
NM_001387800.1 NP_001374729.1 muscleblind-like protein 1 isoform 30
NM_001387801.1 NP_001374730.1 muscleblind-like protein 1 isoform 5
NM_001387802.1 NP_001374731.1 muscleblind-like protein 1 isoform 5
NM_001387803.1 NP_001374732.1 muscleblind-like protein 1 isoform 31
NM_001387804.1 NP_001374733.1 muscleblind-like protein 1 isoform 16
NM_001387805.1 NP_001374734.1 muscleblind-like protein 1 isoform 16
NM_001387806.1 NP_001374735.1 muscleblind-like protein 1 isoform 16
NM_001387807.1 NP_001374736.1 muscleblind-like protein 1 isoform 16
NM_001387808.1 NP_001374737.1 muscleblind-like protein 1 isoform 16
NM_001387809.1 NP_001374738.1 muscleblind-like protein 1 isoform 32
NM_001387810.1 NP_001374739.1 muscleblind-like protein 1 isoform 32
NM_001387811.1 NP_001374740.1 muscleblind-like protein 1 isoform 17
NM_001387812.1 NP_001374741.1 muscleblind-like protein 1 isoform 17
NM_001387813.1 NP_001374742.1 muscleblind-like protein 1 isoform 17
NM_001387814.1 NP_001374743.1 muscleblind-like protein 1 isoform 17
NM_001387815.1 NP_001374744.1 muscleblind-like protein 1 isoform 17
NM_001387816.1 NP_001374745.1 muscleblind-like protein 1 isoform 17
NM_001387817.1 NP_001374746.1 muscleblind-like protein 1 isoform 17
NM_001387818.1 NP_001374747.1 muscleblind-like protein 1 isoform 17
NM_001387819.1 NP_001374748.1 muscleblind-like protein 1 isoform 33
NM_001387820.1 NP_001374749.1 muscleblind-like protein 1 isoform 34
NM_001387821.1 NP_001374750.1 muscleblind-like protein 1 isoform 19
NM_001387822.1 NP_001374751.1 muscleblind-like protein 1 isoform 35
NM_001387823.1 NP_001374752.1 muscleblind-like protein 1 isoform 35
NM_001387824.1 NP_001374753.1 muscleblind-like protein 1 isoform 35
NM_001387825.1 NP_001374754.1 muscleblind-like protein 1 isoform 36
NM_001387826.1 NP_001374755.1 muscleblind-like protein 1 isoform 36
NM_001387827.1 NP_001374756.1 muscleblind-like protein 1 isoform 37
NM_001387828.1 NP_001374757.1 muscleblind-like protein 1 isoform 38
NM_001387829.1 NP_001374758.1 muscleblind-like protein 1 isoform 38
NM_001387830.1 NP_001374759.1 muscleblind-like protein 1 isoform 39
NM_001387831.1 NP_001374760.1 muscleblind-like protein 1 isoform 40
NM_001387832.1 NP_001374761.1 muscleblind-like protein 1 isoform 40
NM_001387833.1 NP_001374762.1 muscleblind-like protein 1 isoform 40
NM_001387834.1 NP_001374763.1 muscleblind-like protein 1 isoform 41
NM_021038.5 NP_066368.2 muscleblind-like protein 1 isoform 1
NM_207292.3 NP_997175.1 muscleblind-like protein 1 isoform 2
NM_207293.2 NP_997176.1 muscleblind-like protein 1 isoform 3
NM_207294.2 NP_997177.1 muscleblind-like protein 1 isoform 4
NM_207295.2 NP_997178.1 muscleblind-like protein 1 isoform 5
NM_207296.2 NP_997179.1 muscleblind-like protein 1 isoform 6
NM_207297.2 NP_997180.1 muscleblind-like protein 1 isoform 7
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 RNA binding IDA
IDA: 通过直接分析推断
15257297 GOA
enables double-stranded RNA binding IDA
IDA: 通过直接分析推断
10970838 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16946708 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in RNA splicing IDA
IDA: 通过直接分析推断
18335541 GOA
involved in regulation of RNA splicing IDA
IDA: 通过直接分析推断
15257297 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
10970838 GOA
located in cytoplasmic stress granule IDA
IDA: 通过直接分析推断
18335541 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10970838 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

MBNL1 蛋白结构

zf-CCCH

zf-CCCH: Zinc finger C-x8-C-x5-C-x3-H type (and similar) (183 - 205)

  • 0
  • 100
  • 200
  • 300
  • 388 a.a.
蛋白主名 其他名称

muscleblind-like protein 1

muscleblind-like

MBNL1 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
MBNL1 Q9NR56 HNRNPH1 Homo sapiens P31943
Anti Tag CoIP
16946708
种属内
MBNL1 Q9NR56 DAB1 Homo sapiens O75553
Validated Y2H
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

MBNL1 抗体

目录号 产品名 应用 反应物种
HY-P82856 MBNL1 Antibody (YA2601) WB Human, Mouse

关联疾病

疾病名称 别名
Myotonic Dystrophy 1

Myotonic Dystrophy

Dystrophia Myotonica

Steinert Disease

Myotonic Dystrophy Type 1

Myotonia Atrophica

DM1

Congenital Myotonic Dystrophy

Myotonia Dystrophica

Steinert Myotonic Dystrophy

Dystrophia Myotonica 1

Dm

Steinert'S Disease

Steinert Myotonic Dystrophy Syndrome

Myotonic Dystrophy Of Steinert

Dystrophia Myotonica Type 1

Myotonic Dystrophy Congenital

Dystrophy, Myotonic, Type 1

Dm - [Dystrophia Myotonica]

Myotonic Muscular Dystrophy

Myotonic Disease

Myotonic Disorders

Myotonic Syndrome

Symptomatic Myotonia

Corneal Dystrophy
Corneal Dystrophy, Fuchs Endothelial, 3

FECD3

Fcd2 Locus

Corneal Dystrophy, Fuchs Endothelial, Late-Onset

Fuchs Endothelial Corneal Dystrophy, Late-Onset

Dystrophy, Corneal, Fuchs Endothelial, Type 3

Myotonic Dystrophy 2

Myotonic Dystrophy Type 2

Proximal Myotonic Myopathy

Promm

Ricker Syndrome

DM2

Dystrophia Myotonica 2

Myotonic Myopathy, Proximal

Myotonic Disorders

Dystrophia Myotonica Type 2

Proximal Myotonic Dystrophy

Ricker Disease

Myotonic Dystrophy, Type 2

Dystrophy, Myotonic, Type 2

Corneal Endothelial Dystrophy

Congenital Hereditary Endothelial Dystrophy Of Cornea

Chandler Syndrome

CHED

Chandler'S Syndrome

Endothelial Corneal Dystrophy

Ched2

Maumenee Corneal Dystrophy

Corneal Dystrophy, Congenital Hereditary Endothelial

Dystrophy Of Corneal Endothelium

Corneal Endothelial Dystrophy 2

Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly

Ched2, Formerly

Corneal Endothelial Dystrophy, Autosomal Recessive

Endothelial Dystrophy

Posterior Membrane Corneal Dystrophy

Corneal Endothelial Dystrophy Type 2

Congenital Hereditary Endothelial Dystrophy Of The Cornea

Congenital Hereditary Endothelial Dystrophy Type Ii

Autosomal Recessive Ched

Autosomal Recessive Congenital Hereditary Endothelial Dystrophy

Chedii

Congenital Hereditary Endothelial Dystrophy Type 2

Infantile Hereditary Endothelial Dystrophy

Congenital Hereditary Endothelial Corneal Dystrophy

Corneal Endothelial Dystrophy 2, Autosomal Recessive

Iridocorneal Endothelial Syndrome

Dystrophy, Corneal, Endothelial

Corneal Endothelial Dystrophy 1, Autosomal Dominant

Pyloric Stenosis
Huntington Disease-Like 2

HDL2

Huntington'S Disease-Like 2

Huntington Disease-Like, Type 2

X-Linked Hereditary Ataxia
Spinocerebellar Ataxia 8

Spinocerebellar Ataxia Type 8

SCA8

Ataxia, Spinocerebellar, Type 8

Fragile X-Associated Tremor/Ataxia Syndrome

Fxtas Syndrome

Fragile X Tremor/Ataxia Syndrome

Fxtas

Myotonia
Lens Disease

Lens Diseases

Spinocerebellar Ataxia 31

Spinocerebellar Ataxia Type 31

SCA31

Spinocerebellar Ataxia 16q22-Linked

Spinocerebellar Ataxia, 16q22-Linked

Pure Spinocerebellar Ataxia Japanese Type

Sca4 Pure Japanese Type

Ataxia, Spinocerebellar, Type 31

Intellectual Developmental Disorder, X-Linked 109

Fraxe Syndrome

Fragile Xe Syndrome

Mental Retardation, X-Linked, Fraxe Type

XLID109

Mrx109

Mental Retardation, X-Linked, Associated With Fragile Site Fraxe

Fraxe Mental Retardation Syndrome

X-Linked Intellectual Developmental Disorder 109

Fraxe Intellectual Disability

Fraxe

Mental Retardation, X-Linked 109

Fragile Site On Chromosome Xq28

Fragile Site, Folic Acid Type

X-Linked Intellectual Disability Associated With Fragile Site Fraxe

Fraxe Intellectual Deficit

Intellectual Disability Associated With Fragile Site Fraxe

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy

Fuchs Endothelial Dystrophy

Fuchs Dystrophy

Fced

Fuchs' Corneal Dystrophy

Fuchs' Endothelial Corneal Dystrophy

Fuchs Atrophy

Fuchs Corneal Dystrophy

Endoepithelial Corneal Dystrophy

Fecd

Late Hereditary Endothelial Dystrophy

Corneal Dystrophy, Fuchs Endothelial

Dystrophy, Corneal, Fuchs Endothelial

Corneal Dystrophy, Fuchs' Endothelial, 1

Oculopharyngeal Muscular Dystrophy

OPMD

Muscular Dystrophy, Oculopharyngeal

Dystrophy, Oculopharyngeal Muscular

Oculopharyngeal Dystrophy

Progressive Muscular Dystrophy, Oculopharyngeal Type

Muscular Dystrophy Oculopharyngeal

Dystrophy, Muscular, Oculopharyngeal

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Muscle Tissue Disease
Spinal And Bulbar Muscular Atrophy, X-Linked 1

Kennedy Disease

Sbma

Spinal And Bulbar Muscular Atrophy

Kennedy'S Disease

X-Linked Spinal And Bulbar Muscular Atrophy

SMAX1

Kd

Kennedy Spinal And Bulbar Muscular Atrophy

Spinobulbar Muscular Atrophy

Bulbospinal Muscular Atrophy, X-Linked

Bulbospinal Neuronopathy, X-Linked Recessive

Xbsn

Spinal And Bulbar Muscular Atrophy Of Kennedy

Bulbospinal Muscular Atrophy

X-Linked Bulbospinal Amyotrophy

Bulbo-Spinal Atrophy, X-Linked

Spinal Bulbar Muscular Atrophy

X-Linked Bulbo-Spinal Atrophy

X-Linked Spinal Bulbar Muscular Atrophy

X-Linked Bsma

X-Linked Bulbospinal Muscular Atrophy

Spinal And Bulbar Muscular Atrophy X-Linked 1

Bulbospinal Muscular Atrophy X-Linked

Bulbospinal Neuronopathy X-Linked Recessive

Kennedy Disease)

Kennedy Syndrome

Atrophy, Muscular, Spinal And Bulbar, Kennedy Type

Atrophy, Muscular, Spinobulbar

Bulbospinal Neuronopathy

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias

Muscular Disease
Spinocerebellar Ataxia 10

Spinocerebellar Ataxia Type 10

SCA10

Spinocerebellar Ataxia-10

Ataxia, Spinocerebellar, Type 10

Premature Ovarian Failure 1

Ovarian Failure, Premature

Fmr1-Related Primary Ovarian Insufficiency

Fragile X-Associated Primary Ovarian Insufficiency

POF1

Pofx

Hypergonadotropic Ovarian Failure, X-Linked

Pof

Primary Ovarian Insufficiency, Fragile X-Associated

Primary Ovarian Insufficiency 1

Ovarian Failure Premature

Premature Ovarian Failure, X-Linked

Fragile X Premature Ovarian Failure

Fmr1-Related Premature Ovarian Failure

Familial Premature Ovarian Failure

Idiopathic Familial Premature Ovarian Failure

Fxpoi

X-Linked Hypergonadotropic Ovarian Failure

Hypergonadotropic Ovarian Failure X-Linked

Poi

Premature Ovarian Failure X-Linked

Primary Ovarian Insufficiency

Premature Ovarian Failure-1

Ovarian Failure, Premature, Type 1

Premature Ovarian Failure, Familial

Premature Menopause

Primary Hypogonadism

Turner Syndrome

Hereditary Ataxia

Sca

Spinocerebellar Ataxia

Ataxias Hereditary

Ataxias, Hereditary

Cerebellar Disease

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Myopathy

Muscular Diseases

Myopathies

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus MBNL1 MGD MGI:1928482
Macaca mulatta MBNL1 VGNC VGNC:74672
Felis catus MBNL1 VGNC VGNC:68202
Bos taurus MBNL1 VGNC VGNC:31283
Canis familiaris MBNL1 VGNC VGNC:43057
Rattus norvegicus MBNL1 RGD RGD:628668