| UniProt ID | MBNL3_HUMAN | |
|---|---|---|
| UniProt AC | Q9NUK0 | |
| Protein Name | Muscleblind-like protein 3 | |
| Gene Name | MBNL3 | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 354 | |
| Subcellular Localization | Nucleus . Cytoplasm . Greater concentration in the nucleus. In both DM1 and DM2 patients, colocalizes with nuclear foci of retained expanded-repeat transcripts. | |
| Protein Description | 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.. | |
| Protein Sequence | MTAVNVALIRDTKWLTLEVCREFQRGTCSRADADCKFAHPPRVCHVENGRVVACFDSLKGRCTRENCKYLHPPPHLKTQLEINGRNNLIQQKTAAAMFAQQMQLMLQNAQMSSLGSFPMTPSIPANPPMAFNPYIPHPGMGLVPAELVPNTPVLIPGNPPLAMPGAVGPKLMRSDKLEVCREFQRGNCTRGENDCRYAHPTDASMIEASDNTVTICMDYIKGRCSREKCKYFHPPAHLQARLKAAHHQMNHSAASAMALQPGTLQLIPKRSALEKPNGATPVFNPTVFHCQQALTNLQLPQPAFIPAGPILCMAPASNIVPMMHGATPTTVSAATTPATSVPFAAPTTGNQLKF | |
| Overview of Protein Modification Sites with Functional and Structural Information | ||
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* ASA = Accessible Surface Area
| Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
|---|---|---|---|---|---|
| 2 | Phosphorylation | ------MTAVNVALI ------CCCEEEEEE | 39.03 | 30622161 | |
| 13 | Ubiquitination | VALIRDTKWLTLEVC EEEECCCCEEHHHHH | 44.49 | - | |
| 36 | Ubiquitination | SRADADCKFAHPPRV CCCCCCCCCCCCCCE | 46.24 | 29967540 | |
| 59 | Ubiquitination | VACFDSLKGRCTREN EEEECCCCCCCCHHC | 48.54 | 29967540 | |
| 59 | Acetylation | VACFDSLKGRCTREN EEEECCCCCCCCHHC | 48.54 | 26051181 | |
| 68 | Ubiquitination | RCTRENCKYLHPPPH CCCHHCCCCCCCCCC | 63.53 | - | |
| 77 | Ubiquitination | LHPPPHLKTQLEING CCCCCCCEEEEEECC | 31.06 | - | |
| 134 | Ubiquitination | PPMAFNPYIPHPGMG CCCCCCCCCCCCCCC | 28.34 | 29967540 | |
| 147 | Ubiquitination | MGLVPAELVPNTPVL CCCCCHHHCCCCCEE | 9.36 | 29967540 | |
| 173 | Ubiquitination | AVGPKLMRSDKLEVC CCCCHHHCCCHHHHH | 52.74 | 29967540 | |
| 180 | Ubiquitination | RSDKLEVCREFQRGN CCCHHHHHHHHHCCC | 2.23 | 29967540 | |
| 193 | Ubiquitination | GNCTRGENDCRYAHP CCCCCCCCCCCCCCC | 57.41 | 29967540 | |
| 219 | Ubiquitination | TVTICMDYIKGRCSR EEEECHHHHCCCCCH | 4.25 | 29967540 | |
| 230 | Ubiquitination | RCSREKCKYFHPPAH CCCHHHCCCCCCHHH | 63.12 | 29967540 | |
| 243 | Ubiquitination | AHLQARLKAAHHQMN HHHHHHHHHHHHHCC | 37.66 | 29967540 | |
| 269 | Ubiquitination | GTLQLIPKRSALEKP CCEEEECCCCCCCCC | 52.57 | 29967540 |
| Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
|---|---|---|---|---|---|---|
Oops, there are no upstream regulatory protein records of MBNL3_HUMAN !! | ||||||
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of MBNL3_HUMAN !! | ||||||
* Distance = the distance between SAP position and PTM sites.
| Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
|---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of MBNL3_HUMAN !! | ||||||
| Interacting Protein | Gene Name | Interaction Type | PPI Reference | Domain-Domain Interactions |
|---|---|---|---|---|
Oops, there are no PPI records of MBNL3_HUMAN !! | ||||
| Kegg Drug | ||||||
|---|---|---|---|---|---|---|
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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