MBNL1: Muscleblind Like Splicing Regulator 1
Key regulator of alternative splicing in muscle and neuronal development; implicated in myotonic dystrophy.
Gene Information Card
| Symbol | MBNL1 |
|---|---|
| Full Name | Muscleblind Like Splicing Regulator 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q25.32 |
| NCBI Gene ID | 4154 ncbi.nlm.nih.gov/gene/4154 |
| Ensembl ID | ENSG00000152601 |
| UniProt ID | Q9NR56 |
| OMIM ID | 606516 |
| HGNC ID | 6923 |
| Aliases | EXP, MBNL, MGC20496, MGC9647, MGC99808, bA335B23.1 |
Description
MBNL1 encodes a member of the muscleblind-like family of RNA-binding proteins. It regulates alternative splicing of pre-mRNAs, particularly in muscle and neuronal tissues. MBNL1 is sequestered by expanded CUG repeats in DMPK (DM1) or CCUG repeats in CNBP (DM2), leading to splicing defects characteristic of myotonic dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myotonic Dystrophy 1 (DM1) | Sequestration by expanded CUG repeats in DMPK mRNA, loss of splicing regulation | ClinVar, OMIM |
| Myotonic Dystrophy 2 (DM2) | Sequestration by expanded CCUG repeats in CNBP mRNA, similar mechanism | ClinVar, OMIM |
| Hereditary Inclusion Body Myopathy | Altered splicing of downstream targets | OMIM |
| Frontotemporal Dementia | Potential role via splicing of tau and other neuronal transcripts | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 15.2 | Medium |
| Brain | 8.3 | Low |
| Liver | 3.1 | Low |
| Testis | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.4 | Cervical carcinoma |
| K562 | 2.1 | Leukemia |
| HepG2 | 4.0 | Hepatocellular carcinoma |
| SH-SY5Y | 7.8 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.292C>T (p.Arg98Trp) | Missense | Rare | Altered RNA binding |
| c.1033G>A (p.Gly345Arg) | Missense | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
Loss of splicing regulation due to sequestration by repeat expansions (DM1/DM2) or rare missense variants affecting RNA binding.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA binding |
| • alternative mRNA splicing | • via spliceosome |
| • regulation of alternative mRNA splicing | • nucleus |
| • cytoplasm |
Pathways
• Alternative splicing regulation
• Myotonic dystrophy pathways
Protein Summary
MBNL1 is a 382-amino acid RNA-binding protein with four CCCH-type zinc finger domains. It shuttles between nucleus and cytoplasm, regulating alternative splicing of numerous pre-mRNAs. In myotonic dystrophy, MBNL1 is sequestered by toxic RNA repeats, leading to mis-splicing of targets such as INSR, CLCN1, and TNNT2.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MBNL1 Knockout HEK293 Cell Line | EDJ-KQ2365 | Human | 4154 | Details Get a Quote |
| MBNL1 Knockout A-549 Cell Line | EDJ-KQ22811 | Human | 4154 | Details Get a Quote |
| MBNL1 Knockout HCT 116 Cell Line | EDJ-KQ22812 | Human | 4154 | Details Get a Quote |
| MBNL1 Knockout HeLa Cell Line | EDJ-KQ22813 | Human | 4154 | Details Get a Quote |
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