| Gene Symbol |
MBNL3
|
| Entrez Gene |
55796
|
| Alt Symbol |
CHCR, MBLX, MBLX39, MBXL
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
muscleblind-like splicing regulator 3
|
| Other Description |
Cys3His CCG1-required protein|muscleblind-like 3|muscleblind-like X-linked protein|muscleblind-like protein 3
|
| Swissprots |
Q6UDQ1 Q9NUK0 Q5JXP4 Q5JXN8 Q9UF37 Q9H0Z7 Q5JXN9 Q8IUR4 Q8TAF4 Q8TAD9
|
| Accessions |
EAX11778 EAX11779 EAX11780 Q9NUK0 AB077698 BAB85648 AB077699 BAB85649 AF467070 AAL87670 AF491305 AAM09533 AI633721 AJ427918 CAD20869 AJ427919 CAD20870 AK002178 BAA92124 AK300248 BAG62014 AK307194 AL133625 CAB63751 AW665447 AY072692 AAL65661 AY372211 AAQ75759 BC042090 AAH42090 BC074775 AAH74775 BC074776 AAH74776 BU569439 CR627122 DA832176 DB023330 DC380677 EU446986 ABZ92515 XM_005262431 XP_005262488 XM_005262432 XP_005262489 XM_005262433 XP_005262490 XM_005262434 XP_005262491 XM_005262435 XP_005262492 XM_005262436 XP_005262493 XM_005262437 XP_005262494 XM_005262438 XP_005262495 XM_005262439 XP_005262496 XM_005262440 XP_005262497 XM_005262441 XP_005262498 XM_005262442 XP_005262499 XM_006724766 XP_006724829 XM_011531363 XP_011529665 XM_011531364 XP_011529666 NM_001170701 NP_001164172 NM_001170702 NP_001164173 NM_001170703 NP_001164174 NM_001170704 NP_001164175 NM_018388 NP_060858 NM_133486 NP_597846
|
| 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. May play a role in myotonic dystrophy pathophysiology (DM). Could inhibit terminal muscle differentiation, acting at approximately the time of myogenin induction. {ECO:0000269|PubMed:12297108, ECO:0000269|PubMed:15257297}.
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:11929853}. Cytoplasm {ECO:0000269|PubMed:11929853}. Note=Greater concentration in the nucleus. In both DM1 and DM2 patients, colocalizes with nuclear foci of retained expanded-repeat transcripts.
|
| Tissue Specificity |
Highly expressed in the placenta. {ECO:0000269|PubMed:11929853}.
|