Mbnl1 - muscleblind like splicing factor 1 Gene

Also Known as Mbnl; mKIAA0428

Species: Mus musculus

Gene Type: protein coding
Gene ID: 56758

Summary

Predicted to enable double-stranded RNA binding activity and regulatory region RNA binding activity. Involved in myoblast differentiation. Acts upstream of or within several processes, including embryonic limb morphogenesis; mRNA splicing, via spliceosome; and skeletal muscle tissue development. Located in cytoplasm and nucleus. Is expressed in several structures, including branchial arch; central nervous system; early conceptus; genitourinary system; and limb bud. Used to study myotonic disease. Orthologous to human MBNL1 (muscleblind like splicing regulator 1). [provided by Alliance of Genome Resources, Apr 2022]

Mbnl1 Products (7)

mRNA Protein Name
NM_001253708.2 NP_001240637.1 muscleblind-like protein 1 isoform 2
NM_001253709.2 NP_001240638.1 muscleblind-like protein 1 isoform 3
NM_001253710.2 NP_001240639.1 muscleblind-like protein 1 isoform 4
NM_001253711.2 NP_001240640.1 muscleblind-like protein 1 isoform 5
NM_001253713.2 NP_001240642.1 muscleblind-like protein 1 isoform 6
NM_001310514.1 NP_001297443.1 muscleblind-like protein 1 isoform 7
NM_020007.4 NP_064391.2 muscleblind-like protein 1 isoform 1

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence References Source
acts upstream of or within alternative mRNA splicing, via spliceosome IMP
IMP: Inferred from mutant phenotype
19075228 MGI
involved in embryonic limb morphogenesis IEP
IEP: Inferred from expression pattern
12915312 MGI
involved in in utero embryonic development IEP
IEP: Inferred from expression pattern
12915312 MGI
acts upstream of or within mRNA splice site recognition IMP
IMP: Inferred from mutant phenotype
14671308 MGI
involved in myoblast differentiation IDA
IDA: Inferred from direct assay
10970838 MGI
involved in nervous system development IEP
IEP: Inferred from expression pattern
12915312 MGI
acts upstream of or within skeletal muscle tissue development IMP
IMP: Inferred from mutant phenotype
16717059 MGI
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
15830352 MGI
located in nucleus IDA
IDA: Inferred from direct assay
15830352 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

muscleblind-like protein 1

  • muscleblind-like 1

  • triplet-expansion RNA-binding protein

Related Agents

  • Approval
  • Pre-clinical Phase

Approval

Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-B0230 Phenylbutazone Inhibitor 99.69% Unkown

Pre-clinical Phase

Bioactive Molecules (8)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-B0230S Phenylbutazone(diphenyl-d10) Inhibitor 99.90% Unkown
HY-B0230S2 Phenylbutazone-13C12 Inhibitor 99.90% Unkown
HY-122970 1,2-Dihydrotanshinone 99.75% Unkown
HY-B0230S1 Phenylbutazone-d9 Inhibitor / Unkown
HY-RS08190 MBNL1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-174226 RNA binder 2 Ligand / Unkown
HY-RS17836 Mbnl1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24304 Mbnl1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Mbnl1 NCBI NCBI:4154