MBNL1 - muscleblind like splicing regulator 1 Gene
Also Known as EXP; MBNL
Species: Homo sapiens
About MBNL1
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 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables RNA binding |
IDA
IDA: Inferred from direct assay
|
15257297 | GOA |
| enables double-stranded RNA binding |
IDA
IDA: Inferred from direct assay
|
10970838 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16946708 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in RNA splicing |
IDA
IDA: Inferred from direct assay
|
18335541 | GOA |
| involved in regulation of RNA splicing |
IDA
IDA: Inferred from direct assay
|
15257297 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
10970838 | GOA |
| located in cytoplasmic stress granule |
IDA
IDA: Inferred from direct assay
|
18335541 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
10970838 | GOA |
MBNL1 Protein Structure
zf-CCCH: Zinc finger C-x8-C-x5-C-x3-H type (and similar) (183 - 205)
- 0
- 100
- 200
- 300
- 388 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
muscleblind-like protein 1 |
|
MBNL1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
MBNL1 | Q9NR56 | HNRNPH1 | Homo sapiens | P31943 | 16946708 | |
|
Intra
|
MBNL1 | Q9NR56 | DAB1 | Homo sapiens | O75553 | 25416956 |
MBNL1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82856 | MBNL1 Antibody (YA2601) | WB | Human, Mouse |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Myotonic Dystrophy 1 |
|
|
| Myotonic Disease |
|
|
| Corneal Dystrophy |
|
|
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
|
| Myotonic Dystrophy 2 |
|
|
| Corneal Endothelial Dystrophy |
|
|
| Pyloric Stenosis |
|
|
| Huntington Disease-Like 2 |
|
|
| X-Linked Hereditary Ataxia |
|
|
| Spinocerebellar Ataxia 8 |
|
|
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
|
| Myotonia |
|
|
| Lens Disease |
|
|
| Spinocerebellar Ataxia 31 |
|
|
| Intellectual Developmental Disorder, X-Linked 109 |
|
|
| Fuchs' Endothelial Dystrophy |
|
|
| Oculopharyngeal Muscular Dystrophy |
|
|
| Cataract |
|
|
| Muscle Tissue Disease |
|
|
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
|
| Muscular Disease |
|
|
| Spinocerebellar Ataxia 10 |
|
|
| Premature Ovarian Failure 1 |
|
|
| Hereditary Ataxia |
|
|
| Cerebellar Disease |
|
|
| Neuromuscular Disease |
|
|
| Myopathy |
|
|
| Peripheral Nervous System Disease |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Dilated Cardiomyopathy |
|
|
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 |
| Others | MBNL1 | NCBI |