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

MBNL1 - muscleblind like splicing regulator 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as EXP; MBNL

Gene ID: 4154 | Gene type: protein coding

About 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.

Summary

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 Products(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

MBNL1 Protein Structure

zf-CCCH

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

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  • 300
  • 388 a.a.
Protein Preferred Names Protein Names

muscleblind-like protein 1

muscleblind-like

Related Diseases

Diseases Alias
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
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

Approval
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-B0230 Phenylbutazone Inhibitor 99.82% Unkown
Pre-clinical Phase
Bioactive Molecules (5)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-B0230S Phenylbutazone(diphenyl-d10) Inhibitor 98.70% Unkown
HY-B0230S1 Phenylbutazone-d9 Inhibitor / Unkown
HY-122970 1,2-Dihydrotanshinone / Unkown
HY-B0230S2 Phenylbutazone-13C12 Inhibitor 99.90% Unkown
HY-RS08190 MBNL1 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source 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