MBNL1

MBNL1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3D2N, 3D2Q, 3D2S
Identifiers
Aliases	MBNL1, EXP, EXP35, EXP40, EXP42, MBNL, muscleblind like splicing regulator 1
External IDs	OMIM: 606516; MGI: 1928482; HomoloGene: 23186; GeneCards: MBNL1; OMA:MBNL1 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	152,465,780 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	60,629,750 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; superficial temporal artery; ; saphenous vein; ; trabecular bone; ; tail of epididymis; ; lower lobe of lung; ; Skeletal muscle tissue of rectus abdominis; ; Skeletal muscle tissue of biceps brachii; ; urethra; ; skin of hip;
	Top expressed in
	tunica media of zone of aorta; ; tibiofemoral joint; ; skin of external ear; ; triceps brachii muscle; ; stroma of bone marrow; ; ankle; ; intercostal muscle; ; body of femur; ; temporal muscle; ; sternocleidomastoid muscle;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	regulatory region RNA binding; double-stranded RNA binding; protein binding; metal ion binding; RNA binding;
Cellular component	cytoplasm; centrosome; cytoplasmic stress granule; nucleus; nucleoplasm; cytosol;
Biological process	mRNA processing; regulation of RNA splicing; myoblast differentiation; in utero embryonic development; embryonic limb morphogenesis; RNA splicing; nervous system development; regulation of alternative mRNA splicing, via spliceosome;
	Sources:Amigo / QuickGO
Orthologs
	4154
	56758
	ENSG00000152601
	ENSMUSG00000027763
	Q9NR56; Q86VM6
	Q9JKP5
NM_001314057; NM_021038; NM_207292; NM_207293; NM_207294;
	NM_207295; NM_207296; NM_207297; NM_001363870
NM_001253708; NM_001253709; NM_001253710; NM_001253711; NM_001253713;
	NM_020007; NM_001310514
NP_001300986; NP_066368; NP_997175; NP_997176; NP_997177;
	NP_997178; NP_997179; NP_997180; NP_001350799; NP_001363747; NP_001363748; NP_001363749; NP_001363750; NP_001363751; NP_001363752; NP_001363753; NP_001363754; NP_001363755; NP_001363756; NP_001363757; NP_001363758; NP_001363759; NP_001363760; NP_001363761; NP_001363762; NP_001363763; NP_001363764; NP_001363765; NP_001363766; NP_001363767; NP_001363768; NP_001363769; NP_001363770; NP_001363771; NP_001363772; NP_001363773; NP_001363774; NP_001363775; NP_001363776; NP_001363777; NP_001363778; NP_001363780; NP_001363782; NP_001300986.1; NP_997178.1; NP_997179.1; NP_997180.1
NP_001240637; NP_001240638; NP_001240639; NP_001240640; NP_001240642;
	NP_001297443; NP_064391
	Wikidata
View/Edit Human	View/Edit Mouse

Muscleblind Like Splicing Regulator 1 (MBNL1) is an RNA splicing protein that in humans is encoded by the MBNL1 gene. It has a well characterized role in Myotonic dystrophy where impaired splicing disrupts muscle development and function. In addition to regulating mRNA maturation of hundreds of genes MBNL1 (along with its paralogs MBNL2 & MBNL3) autoregulate alternative splicing of the MBNL1 pre-mRNA transcript. The founding member of the human MBNL family of proteins was the Drosophila Muscleblind protein (PMID 9334280).

Human MBNL1 is an alternative splicing regulator that harbors dual function as both a repressor and activator for terminal muscle differentiation. The repressive function of Human MBNL1 by sequestering at normal splice sites has been shown to lead to RNA-splicing defects that lead to muscular diseases. The gene can be alternatively spliced into multiple functionally distinct isoforms, some of which linked to be involved in cancer biology.

Human MBNL1 is a 370 amino acid protein composed of four Zinc Finger protein domains of the CCCH type linked in tandem. The MBNL1 protein specifically binds to double stranded CUG RNA expansions. The Zinc Finger domains play a role in both protein:protein contacts as well as RNA:protein contacts when bound to an oligonucleotide.