| Gene Symbol |
MBNL1
|
| Entrez Gene |
4154
|
| Alt Symbol |
EXP, EXP35, EXP40, EXP42, MBNL
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
muscleblind-like splicing regulator 1
|
| Other Description |
muscleblind-like protein 1|triplet-expansion RNA-binding protein
|
| Swissprots |
Q86UV9 Q96P92 E9PBW7 O43797 O43311 Q96RE3 Q9NR56 Q86UV8
|
| Accessions |
EAW78775 EAW78776 EAW78777 EAW78778 EAW78779 EAW78780 EAW78781 EAW78782 EAW78783 Q9NR56 AB007888 BAA24858 AF255334 AAF76138 AF395876 AAK82889 AF401998 AAK94915 AF497718 AAP30726 AF497719 AAP30727 AI971426 AJ308400 CAC83727 AK297133 BAG59637 AK304089 BAG64995 AK307420 AW204030 BC005296 BC043493 AAH43493 BC050535 AAH50535 BM686432 BQ223290 BX537491 CR749454 CAH18290 EU446985 ABZ92514 Y13829 CAA74155 XM_005247457 XP_005247514 XM_005247458 XP_005247515 XM_005247460 XP_005247517 XM_005247461 XP_005247518 XM_005247462 XP_005247519 XM_005247463 XP_005247520 XM_005247464 XP_005247521 XM_005247465 XP_005247522 XM_005247466 XP_005247523 XM_005247467 XP_005247524 XM_005247468 XP_005247525 XM_005247470 XP_005247527 XM_005247471 XP_005247528 XM_005247474 XP_005247531 XM_005247475 XP_005247532 XM_005247476 XP_005247533 XM_005247477 XP_005247534 XM_006713639 XP_006713702 XM_006713641 XP_006713704 XM_011512843 XP_011511145 XM_011512844 XP_011511146 XM_011512845 XP_011511147 XM_011512846 XP_011511148 XM_011512847 XP_011511149 XM_011512848 XP_011511150 XM_011512849 XP_011511151 XR_924141 NM_021038 NP_066368 NM_207292 NP_997175 NM_207293 NP_997176 NM_207294 NP_997177 NM_207295 NP_997178 NM_207296 NP_997179 NM_207297 NP_997180
|
| Function |
Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y- 3'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues. {ECO:0000269|PubMed:10970838, ECO:0000269|PubMed:15257297, ECO:0000269|PubMed:16946708, ECO:0000269|PubMed:18335541, ECO:0000269|PubMed:19470458}.
|
| Subcellular Location |
Nucleus. Cytoplasm. Cytoplasmic granule. Note=Localized with DDX1, TIAL1 and YBX1 in stress granules upon stress. Localized in the cytoplasm of multinucleated myotubes. Colocalizes with nuclear foci of retained expanded-repeat transcripts in myotubes from patients affected by myotonic dystrophy.
|
| Tissue Specificity |
Highly expressed in cardiac, skeletal muscle and during myoblast differentiation. Weakly expressed in other tissues (at protein level). Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:10970838, ECO:0000269|PubMed:11929853}.
|